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Sample records for melyridae cytogenetic study

  1. Cytogenetic analysis of Astylus antis (Perty, 1830) (Coleoptera, Melyridae): Karyotype, heterochromatin and location of ribosomal genes

    PubMed Central

    2010-01-01

    Cytogenetic analysis of Astylus antis using mitotic and meiotic cells was performed to characterize the haploid and diploid numbers, sex determination system, chromosome morphology, constitutive heterochromatin distribution pattern and chromosomes carrying nucleolus organizer regions (NORs). Analysis of spermatogonial metaphase cells revealed the diploid number 2n = 18, with mostly metacentric chromosomes. Metaphase I cells exhibited 2n = 8II+Xyp and a parachute configuration of the sex chromosomes. Spermatogonial metaphase cells submitted to C-banding showed the presence of small dots of constitutive heterochromatin in the centromeric regions of nearly all the autosomes and on the short arm of the X chromosome (Xp), as well as an additional band on one of the arms of pair 1. Mitotic cells submitted to double staining with base-specific fluorochromes (DAPI-CMA3 ) revealed no regions rich in A+T or G+C sequences. Analysis of spermatogonial mitotic cells after sequential Giemsa/AgNO 3 staining did not reveal any specific mark on the chromosomes. Meiotic metaphase I cells stained with silver nitrate revealed a strong impregnation associated to the sex chromosomes, and in situ hybridization with an 18S rDNA probe showed ribosomal cistrons in an autosomal bivalent. PMID:21637476

  2. Cytogenetic studies in ovarian cancer.

    PubMed

    Whang-Peng, J; Knutsen, T; Douglass, E C; Chu, E; Ozols, R F; Hogan, W M; Young, R C

    1984-01-01

    Cytogenetic studies of ovarian cancer have been conducted in the Medicine Branch, NCI, National Institutes of Health for 5 years. A total of 72 patients were studied by direct preparation and/or 1- to 3-day short-term culture of ascites (86 samples), pleural fluid (4 samples), and tumor (2 samples). Repeat examinations (1-24 months later) were performed in 7 of the 72 patients. Forty-four patients (62%) were successfully analyzed with banding techniques: 6 patients had adenocarcinoma, 7 had serous adenocarcinoma, 13 had serous papillary adenocarcinoma, 7 had serous papillary cystadenocarcinoma, 2 had mucinous adenocarcinoma, 6 had undifferentiated or poorly differentiated adenocarcinoma, 1 had clear cell adenocarcinoma, and 2 were not classified. Of these 44 patients, 29 had received prior chemotherapy, 14 were untreated, and in 1 patient the treatment status was unknown. Aneuploidy was observed in all patients and there was considerable variation in the chromosome numbers (even within single samples), often ranging from diploidy to triploidy to tetraploidy. All 44 patients had numerical abnormalities and 39 had structural abnormalities. The chromosomes most frequently involved in structural abnormalities (in decreasing order according to the number of patients involved) were #1, #3, #2, #4, #9, #10, #15, #19, #6, and #11; the least involved chromosomes were #21 and #5. Clone formation and the number of chromosomes involved in structural abnormalities increased with duration of disease and were more extensive in patients treated with chemotherapy than in patients treated with surgery alone. Our data did not show a deletion of chromosome #6 (6q-) to be specific for ovarian cancer. PMID:6690026

  3. [Cytogenetic studies in primary amenorrhea].

    PubMed

    Baron, J; Warenik-Szymankiewicz, A

    1975-01-01

    Cytogenetic analysis in 125 women with primary amenorrhea consisting of determinations of sex chromatin and karyotype, and in some cases of autoradiography were performed. On the basis of clinical, endocrinologic and cytogenetic criteria, the women were divided into ten clinical groups. In Turner's syndrome 45,X monosomie was observed only in 9 patients and in the remaining 12 cases varies types of mosaicism or of structural aberrations of the X chromosome. In pure gonadal dysgenesis, the patients exhibited 46,XY karyotype have the tendency to malign tumors of the gonads. In all cases with male pseudohermaphroditism the karyotypes 46,XY were observed. The remaining patients with primary amenorrhea exhibited 46,XX karyotype and belonged to the cases with Mayer-Rokitansky-Kustner syndrome, with adrenogenital syndrome, with hypoplasia of the ovaries, with primary amenorrhea of uterine or pituitary origin or at last with pubertas tarda. PMID:1189755

  4. Cytogenetics

    SciTech Connect

    Obe, G.; Basler, A.

    1987-01-01

    Different aspects of cytogenetics, such as the molecular structure of eukaryotic chromosomes, computerized analyses of chromosomes, evolution of karyotypes, chromosomes and cancer, chromosomes in genetic toxicology, and chromosomal aberrations (-induction, -in human populations, -in human eggs and sperm) are covered in this book. New techniques and approaches accompany overviews of all the different aspects of eukaryotic chromosomes.

  5. [Cytogenetic study of bovine leukosis].

    PubMed

    Staník, J; Tetrevová, J; Izariková, A; Cierna, V

    1981-09-01

    Nine dairy cows aged four to eleven years were subjected to examination by chromosomal analysis. These cows had been found, by haematological examination, to suffer from leucosis. The study also covered one ten-day-old calf - heifer. The test group included two dam-daughter pairs. The animals belonged to the Black-Pied Lowland breed. The blood was sampled from vena jugularis and the karyotypes were processed and evaluated by the method after Moorhead et al. (1960), modified by Lojda et al. (1974). A list was kept for each animal. The tested animals were included in classes by the percentages of the chromosome aberrations: class I - two animals (up to 10% of aberrations), class II - seven animals (from 10% to 20% of aberrations), class III - one animal (above 20% of aberrations). Hyposomy was found in all cases, polysomy and hyperploidy in four cases. Structural aberrations were observed in nine cases, breaks being the most frequent anomalies (7 cases). Breaks on sexual chromosomes were observed in five cases, including the dam-daughter pairs; centric fusion occurred in one case and mixed aberrations in two cases. PMID:6272467

  6. Cytogenetic studies of three triazine herbicides. I. In vitro studies

    EPA Science Inventory

    Atrazine, simazine, and cyanazine are widely used pre-emergence and post-emergence triazine herbicides that have made their way into the potable water supply of many agricultural communities. Because of this and the prevalence of contradictory cytogenetic studies in the literatur...

  7. Cytogenetic studies: an essential part of the paediatric necropsy.

    PubMed Central

    Sutherland, G R; Carter, R F

    1983-01-01

    Chromosome studies were attempted on 97% of necropsies carried out in the Department of Histopathology of the Adelaide Children's Hospital over the four-year period ending May 1981. Results were obtained from 89% of necropsies of which 7.5% had major chromosome abnormalities. The chromosome results are analysed according to the category of the necropsy and to primary cause of death. It is recommended that cytogenetic studies be performed on all stillbirths and infants dying at less than 28 days of age except in cases of isolated CNS malformation, sudden infant death syndrome (SIDS), trauma, or known single gene defects. PMID:6681820

  8. Skylab: Cytogenetic studies of blood (experiment mill)

    NASA Technical Reports Server (NTRS)

    Lockhart, L. H.

    1981-01-01

    Preflight and postflight chromosomal analyses of space flight crews are presented. Special attention is given to findings suggestive of exposure to ionizing radiation. Information was obtained by study of persons receiving an external body source, such as, therapeutic dosage or those accidentally exposed. Others receiving radiation exposure from an internal source, such as the decay of radioisotopes administered for diagnosis or treatment, were also analyzed.

  9. First cytogenetic study of Cavernicola pilosa Barber, 1937 (Hemiptera, Triatominae).

    PubMed

    Souza, E S; Alevi, K C C; Ribeiro, A R; Furtado, M B; Atzingen, N C B V; Azeredo-Oliveira, M T V; Rosa, J A

    2015-01-01

    Cavernicola pilosa is a triatomine species that lives in caves and feeds on bat blood. This vector has a wide geographical distribution, and is found in Brazil, Colombia, Panama, Peru, and Venezuela. Little is known about the reproductive biology of this species, because most previous studies have only characterized its morphology, morphometry, ecology, and epidemiology. Therefore, this study aimed to obtain preliminary data related to spermatogenesis in C. pilosa by conducting cytogenetic analysis. Analysis of the heterochromatic pattern of C. pilosa during the initial prophases revealed that heterochromatic blocks are only present in the sex chromosomes. Based on the analyses of the meiotic metaphase and prophases, we found that the sex determination system of C. pilosa is XY and the chromosomes are holocentric. C. pilosa spermatids are filamentous and have long flagella. It was not possible to detect corpuscle or filament heteropycnosis in spermatids of this species. The initial cytogenetic data presented in this study are important in characterizing the spermatogenesis and heterochromatic patterns of C. pilosa. Our results suggest that adaptation to troglodytism did not result in differences in spermatogenesis in this vector. PMID:26535704

  10. A cytogenetic study of papaya workers exposed to ethylene dibromide.

    PubMed

    Steenland, K; Carrano, A; Ratcliffe, J; Clapp, D; Ashworth, L; Meinhardt, T

    1986-06-01

    Ethylene dibromide (EDB) has been shown to be carcinogenic in animal studies and mutagenic in vitro. One cytogenetic study of workers exposed to low levels of EDB for short durations was negative. To test whether exposure to low levels of EDB over long periods caused cytogenetic changes, we have assessed the frequencies of sister-chromatid exchanges (SCE) and chromosomal aberrations (CA) in the peripheral blood lymphocytes of 60 men occupationally exposed to EDB. These men worked in papaya-packing plants where EDB was used to fumigate the fruit after harvest to kill fruit-fly larvae. 42 other men who worked at a nearby sugar mill served as controls. The average duration of exposure of the papaya workers was 5 years. 82 full shift personal breathing-zone air samples indicated that the papaya workers were exposed to a geometric mean of 88 ppb of EDB, as an 8-h time weighted average (TWA). Peaks up to 262 ppb were measured. The proposed OSHA 8-h TWA for EDB is 100 ppb, while NIOSH recommends 45 ppb. No differences in SCE levels were found between exposed and nonexposed workers. No differences were found in the total CA frequency between exposed and nonexposed workers. SCE levels were significantly increased in men who smoked cigarettes (p = 0.0001) and in men who smoked marijuana (p = 0.01). CA levels showed a significant increasing trend with age (p = 0.03). PMID:3520305

  11. Cytogenetic and molecular studies of down syndrome individual with leukemia

    SciTech Connect

    Shen, J.J.; Hassold, T.J.; Williams, B.J.; Zupursky, A.; Doyle, J.; Sherman, S.L.; Jacobs, P.A.; Shugar, A.L.; Soukup, S.W.

    1995-04-01

    There is an increased risk of leukemia in Down syndrome (DS) patients, with estimates ranging from 14 to 30 times the incidence rate observed for chromosomally normal children. Furthermore, one type of leukemia, called {open_quotes}transient leukemia{close_quotes} (TL), occurs almost exclusively in DS infants. The basis of the association between DS and leukemia is unknown, but we and others have hypothesized that it may be influenced by the mechanism of origin of the extra chromosome. Therefore, we initiated a cytogenetic and molecular study of nondisjunction in leukemic DS individuals. To date, we have obtained blood and/or tissue samples from 55 individuals consisting of 17 cases with TL, 7 cases of acute nonlymphocytic leukemia subtype M7 (ANLL-M7, or acute megakaryoblastic leukemia, postulated to be related to TL), and 31 cases of other forms of leukemia. Analysis of these cases suggests differences between DS children with TL and those with other types of leukemia or DS individuals with no history of leukemia. Specifically, the TL and ANLL-M7 cases have a highly significant increase in the frequency of {open_quotes}atypical{close_quotes} constitutional karyotypes (i.e., mosaic trisomies, rings, and/or isochromosomes) and are almost always male. Additionally, genetic mapping studies suggest an increase in the frequency of disomic homozygosity, especially in proximal 21q, in DS individuals with TL and ANLL-M7. 19 refs., 3 figs., 4 tabs.

  12. Advances in laboratory evaluation of Turner syndrome and its variants: beyond cytogenetics studies.

    PubMed

    Wolff, D J

    2000-11-01

    Turner syndrome is a clinically defined phenotype that is characterized by partial or complete X chromosome monosomy. A host of cytogenetic aberrations and mosaicism have been associated with this syndrome. Some individuals, Turner syndrome variants, have cytogenetic findings consistent with Turner syndrome, but exhibit atypical clinical phenotypes. Recently, several molecular tests have been presented to allow for the refined clinical study of Turner syndrome and its variants. PMID:11216383

  13. Cytogenetic telomere and telomerase studies in lumbo-sacral chordoma

    SciTech Connect

    Schwartz, H.S.; Dahir, G.A.; Miller, L.K.

    1994-09-01

    Lumbo-sacral chordomas are rare skeletal sarcomas that originate from the remnant notochord. There are approximately 35 lumbo-sacral chordomas reported annually in the U.S.A. The understanding of this rare human cancer is limited to observations of its clinical behavior and embryonic link. We performed chromosome and molecular analyses from five surgically harvested chordomas in an effort to document genetic abnormalities and to further understand its tumor biology. Cytogenetically, four of five patients had entirely normal chromosomes. One patient had several abnormalities seen in one of 100 cells including a translocation with breakpoints at bands 5q13 and 7q22, loss of one X chromosome and an extra chromosome 14. There was no evidence of monosomy X or trisomy 14 seen with interphase in situ hybridization using biotin-labeled alpha satellite chromosome specific probes for chromosome 14/22 and X. Telomere integrity is required to protect termini from illegitimate recombination. Typically telomeric reduction occurs in senescent fibroblasts in vivo aging and several human solid tumors. A telomeric probe (TTAGGG){sub 50} was hybridized to genomic DNA isolated from chordoma cells and digested with Hinf I which allows the telomeric DNA to remain intact. The tumor DNA was paired with leukocyte DNA from age-matched controls and revealed telomere elongation in all four patients studied with molecular genetic techniques. Telomerase activity is required to maintain telomere integrity and is not present in normal somatic cells. It is determined by visualizing the sizes of the electrophoresis gel-separated radioactive telomeric fragments assembled during incubation of cytoplasmic extracts containing telomerase. Telomerase activity was detected when compared with HeLa cells, a positive control. In addition, no telomerase activity was detected from the chordoma patient`s fibroblasts.

  14. Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman.

    PubMed

    Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma; Rajab, Anna

    2016-02-01

    The aim of this study was to evaluate cytogenetic findings in Omani patients who had been referred for suspicion of sex chromosome abnormalities that resulted in different clinical disorders. Furthermore, it sought to examine the frequency of chromosomal anomalies in these patients and to compare the obtained results with those reported elsewhere. Cytogenetic analysis was performed on 1232 cases with variant characteristics of sexual development disorders who had been referred to the cytogenetic department, National Genetic Centre, Ministry of Health, from different hospitals in the Sultanate of Oman between 1999 and 2014. The karyotype results demonstrated chromosomal anomalies in 24.2% of the cases, where 67.5% of abnormalities were identified in referral females, whereas only 32.6% were in referral males. Of all sex chromosome anomalies detected, Turner syndrome was the most frequent (38.2%) followed by Klinefelter syndrome (24.9%) and XY phenotypic females (16%). XXX syndrome and XX phenotypic males represented 6.8% and 3.8% of all sex chromosome anomalies, respectively. Cytogenetic analysis of patients referred with various clinical suspicions of chromosomal abnormalities revealed a high rate of chromosomal anomalies. This is the first broad cytogenetic study reporting combined frequencies of sex chromosome anomalies in sex development disorders in Oman. PMID:26706459

  15. Cytogenetic studies of Brazilian pediatric myelodysplastic syndrome cases: challenges and difficulties in a large and emerging country

    PubMed Central

    Velloso, E.D.R.P.; Chauffaille, M.L.; Peliçario, L.M.; Tanizawa, R.S.S.; Toledo, S.R.C.; Gaiolla, R.D.; Lopes, L.F.

    2013-01-01

    Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis with other myeloid neoplasms. These data show the importance of the Cooperative Group for continuing education in order to avoid a late or wrong diagnosis. PMID:23314345

  16. CYTOGENETIC STUDIES IN MICE TREATED WITH THE JET FUELS, JET-A AND JP-8

    EPA Science Inventory

    Cytogenetic studies in mice treated with the jet fuels, Jet-A and JP-8
    Abstract
    The genotoxic potential of the jet fuels, Jet-A and JP-8, were examined in mice treated on the skin with a single dose of 240 ug/mouse. Peripheral blood smears were prepared at the start of the ...

  17. Cytogenetic profiles of 2806 patients with acute myeloid leukemia-a retrospective multicenter nationwide study.

    PubMed

    Byun, Ja Min; Kim, Young Jin; Yoon, Hwi-Joong; Kim, Si-Young; Kim, Hee-Je; Yoon, Jaeho; Min, Yoo Hong; Cheong, Jun-Won; Park, Jinny; Lee, Jae Hoon; Hong, Dae Sik; Park, Seong Kyu; Kim, Hyeoung-Joon; Ahn, Jae-Sook; Shin, Ho-Jin; Chung, Joo Seop; Lee, Won Sik; Lee, Sang Min; Park, Yong; Kim, Byung Soo; Lee, Je-Hwan; Lee, Kyoo-Hyung; Jung, Chul Won; Jang, Jun Ho; Min, Woo-Sung; Park, Tae Sung

    2016-08-01

    The cytogenetic and molecular data is recognized as the most valuable prognostic factor in acute myeloid leukemia (AML). Our aim was to systemically analyze the cytogenetics of Korean AML patients and to compare the cytogenetic profiles of various races to identify possible geographic heterogeneity. We retrospectively reviewed medical records of 2806 AML patients diagnosed at 11 tertiary teaching hospitals in Korea between January 2007 and December 2011. The most common recurrent chromosomal abnormality was t(8;21) (8.8 %, 238/2717), but t(15;17) showed an almost same number (8.6 %,235/2717). Among de novo AML, the most frequent aberrations were t(15;17), observed in 229 (10.7 %). The most common French-American-British (FAB) classification type was M2 (32.2 %), and recurrent cytogenetic abnormalities correlated with the FAB subtypes. Among 283 secondary AML cases, myelodysplastic syndrome was the most common predisposing factor. About 67.1 % of the secondary AML cases were associated with chromosomal aberrations, and chromosome 7 abnormalities (n = 45, 15.9 %) were most common. The incidence of FLT3 internal tandem duplication mutation was relatively low at 15 %. Our study reports certain similarities and differences in comparison to previous reports. Such discrepancies call for extensive epidemiological studies to clarify the role of genetic as well as geographic heterogeneity in the pathogenesis of AML. PMID:27230620

  18. Cytogenetic profiles in multiple myeloma and monoclonal gammopathy of undetermined significance: a study in highly purified aberrant plasma cells

    PubMed Central

    Schmidt-Hieber, Martin; Gutiérrez, María Laura; Pérez-Andrés, Martin; Paiva, Bruno; Rasillo, Ana; Tabernero, Maria Dolores; Sayagués, José Maria; Lopez, Antonio; Bárcena, Paloma; Sanchez, María Luz; Gutiérrez, Norma C.; San Miguel, Jesus F.; Orfao, Alberto

    2013-01-01

    Cytogenetic studies in clonal plasma cell disorders have mainly been done in whole bone marrow or CD138+ microbead-enriched plasma cells and suggest that recurrent immunoglobulin heavy chain translocations - e.g. t(4;14) -are primary oncogenetic events. The aim of this study was to determine cytogenetic patterns of highly purified aberrant plasma cells (median purity ≥98%) in different clonal plasma cell disorders. We analyzed aberrant plasma cells from 208 patients with multiple myeloma (n=148) and monoclonal gammopathy of undetermined significance (n=60) for the presence of del(13q14), del(17p13) and t(14q32) using multicolor interphase fluorescence in situ hybridization. Additionally, immunoglobulin heavy chain gene arrangements were analyzed and complementarity determining region 3 was sequenced in a subset of patients and combined multicolor interphase fluorescence in situ hybridization/immunofluorescent protein staining analyses were performed in selected cases to confirm clonality and cytogenetic findings. At diagnosis, 96% of cases with multiple myeloma versus 77% of monoclonal gammopathy of undetermined significance cases showed at least one cytogenetic alteration and/or hyperdiploidy. The cytogenetic heterogeneity of individual cases reflected coexistence of cytogenetically-defined aberrant plasma cell clones, and led to the assumption that karyotypic alterations were acquired stepwise. Cases of multiple myeloma and monoclonal gammopathy of undetermined significance frequently showed different but related cytogenetic profiles when other cytogenetic alterations such as deletions/gains of the immunoglobulin heavy chain or the fibroblast growth factor receptor 3 were additionally considered. Interestingly, in 24% of multiple myeloma versus 62% of monoclonal gammopathy of undetermined significance patients with an immunoglobulin heavy chain translocation, aberrant plasma cells with and without t(14q32) coexisted in the same patient. Our data suggest that

  19. A comparative study of phytohaemagglutinin and extract of Phaseolus vulgaris seeds by characterization and cytogenetics

    NASA Astrophysics Data System (ADS)

    Badari Nath, A. R. S.; Sivaramakrishna, A.; Marimuthu, K. M.; Saraswathy, Radha

    2015-01-01

    Phytohaemagglutinin (PHA) is a lectin obtained from Phaseolus vulgaris (red kidney beans), that acts as a mitogen in human leucocyte culture and is commercially available from Gibco®. This PHA (Gibco®) was found to be very expensive, hence other inexpensive sources that can be used in all kinds of cytogenetics labs (rich and poor), were attempted. One such successful attempt was PHA extract from seeds of P.vulgaris. This paper details the methodology of extraction and application of PHA from seeds of P.vulgaris. Attempts has been made to identify the chemical and physical properties of the products in the extract, analyzed by various spectroscopic and analytical techniques. The analysis clearly indicates that the product from Phaseolus seeds extract was found to be similar to the commercially available PHA (Gibco®) in the cytogenetic study of human leucocyte cultures. The present study enforces the possible utility of the plant extract directly for human leucocyte cultures.

  20. A comparative study of phytohaemagglutinin and extract of Phaseolus vulgaris seeds by characterization and cytogenetics.

    PubMed

    Badari Nath, A R S; Sivaramakrishna, A; Marimuthu, K M; Saraswathy, Radha

    2015-01-01

    Phytohaemagglutinin (PHA) is a lectin obtained from Phaseolus vulgaris (red kidney beans), that acts as a mitogen in human leucocyte culture and is commercially available from Gibco. This PHA (Gibco) was found to be very expensive, hence other inexpensive sources that can be used in all kinds of cytogenetics labs (rich and poor), were attempted. One such successful attempt was PHA extract from seeds of P.vulgaris. This paper details the methodology of extraction and application of PHA from seeds of P.vulgaris. Attempts has been made to identify the chemical and physical properties of the products in the extract, analyzed by various spectroscopic and analytical techniques. The analysis clearly indicates that the product from Phaseolus seeds extract was found to be similar to the commercially available PHA (Gibco) in the cytogenetic study of human leucocyte cultures. The present study enforces the possible utility of the plant extract directly for human leucocyte cultures. PMID:25004904

  1. Cytogenetic study of spontaneous abortions by transabdominal villus sampling and direct analysis of villi.

    PubMed

    Sánchez, J M; Franzi, L; Collia, F; De Díaz, S L; Panal, M; Dubner, M

    1999-07-01

    We report our experience in a cytogenetic study of 93 spontaneous abortions. Specimens were obtained by transabdominal chorionic villus sampling (TACVS) in women requesting prenatal diagnosis by chorionic villus sampling (CVS) but in whom an arrested pregnancy had been diagnosed during the ultrasound examination. Our success rate, i.e. the percentage of cases where we obtained results, was 91. 4 per cent, and the rate of abnormalities-mostly aneuploidies and polyploidies-was 62.3 per cent. In normal cases, masculine:feminine ratio was 1:1. These results confirm those obtained by other groups earlier this decade and allow us to conclude that, for the cytogenetic study of spontaneous abortions, CVS is a better approach than the culture of the products of conception after evacuation, because the success rate is higher and because it provides certainty that the specimens obtained are of fetal origin. PMID:10419605

  2. [Cytogenetic study of a case of Fanconi's syndrome with a familial pericentric inversion].

    PubMed

    Crippa, L; Ferrier, S

    1975-03-01

    The cytogenetic study of a case of Fanconi syndrome in a 16-year-old boy revealed besides chromosomal breakages, quadriradials and dicentric chromosomes, a pericentric inversion of chromosome No. 1. An uncle and an aunt on the paternal side presented likewise this pericentric inversion, however without breakages or clinical signs of Fanconi syndrome. Another paternal aunt showed short thumbs, but without chromosomal anomalies. The authors point to possible genetic repercussions of this familial pericentric inversion. PMID:1165481

  3. Comparative Cytogenetic Study on the Toxicity of Magnetite and Zinc Ferrite Nanoparticles in Sunflower Root Cells

    NASA Astrophysics Data System (ADS)

    Foca-nici, Ecaterina; Capraru, Gabriela; Creanga, Dorina

    2010-12-01

    In this experimental study the authors present their results regarding the cellular division rate and the percentage of chromosomal aberrations in the root meristematic cells of Helianthus annuus cultivated in the presence of different volume fractions of magnetic nanoparticle suspensions, ranging between 20 and 100 microl/l. The aqueous magnetic colloids were prepared from chemically co-precipitated ferrites coated in sodium oleate. Tissue samples from the root meristeme of 2-3 day old germinated seeds were taken to prepare microscope slides following Squash method combined with Fuelgen techniques. Microscope investigation (cytogenetic tests) has resulted in the evaluation of mitotic index and chromosomal aberration index that appeared diminished and respectively increased following the addition of magnetic nanoparticles in the culture medium of the young seedlings. Zinc ferrite toxic influence appeared to be higher than that of magnetite, according to both cytogenetic parameters.

  4. A comparative study on the cytogenetic activity of three benzodiazepines in vitro.

    PubMed

    Ekonomopoulou, Maria T; Akritopoulou, Kyriaki; Mourelatos, Constantine; Iakovidou-Kritsi, Zafiroula

    2011-06-01

    Even though benzodiazepines (BDZs) possess a leading place among drugs used as anxiolytics, sedatives, muscle relaxants, and anticonvulsants, their cytogenetic effects have not been widely studied in humans. Alprazolam (AZ), bromazepam (BZ), diazepam, and lorazepam (LZ) are some of the most commonly prescribed BDZs. Previous positive findings on diazepam's cytogenetic effects in human lymphocytes suggested additional investigation. In the present research, we explored the cytogenetic potential of AZ, BZ, and LZ in human lymphocyte cultures, using an expanded sample set, administering the under-investigation medications at final concentrations equivalent to oral dosage. As a biomarker of genotoxicity we used sister chromatid exchanges, one of the most sensitive methods reflecting DNA damage and/or subsequent DNA repair, and as a marker of cytostaticity we estimated the proliferation rate index. After 72 h of incubation in the cultures, all three BDZs caused a concentration-dependent, statistically significant increase of sister chromatid exchange frequency (p < 0.001) followed by a statistically significant decrease of proliferation rate index (p < 0.001) of lymphocytes. Our conclusive results suggest that AZ, BZ, and LZ, at concentrations equivalent to oral doses, exhibit statistically significant genotoxicity in human lymphocyte cultures. PMID:21265625

  5. New Coleoptera records from New Brunswick, Canada: Trogossitidae, Cleridae, and Melyridae, with an addition to the fauna of Nova Scotia

    PubMed Central

    Webster, Reginald P.; Sweeney, Jon D.; DeMerchant, Ian

    2012-01-01

    Abstract Grynocharis quadrilineata (Melsheimer) and Tenebroides corticalis (Melsheimer) of the family Trogossitidae are newly recorded for New Brunswick, Canada. Additional records of the recently reported Calitys scabra (Thunberg)and Ostoma fraterna (Randall) are presented for the province. The record of Ostoma fraterna is the first recent record of this species from New Brunswick. Additional New Brunswick records of the thaneroclerine, Zenodosus sanguineus (Say), are given, indicting that this species is common and widespread in the province. One species of Cleridae, Cymatodera bicolor (Say),is newly reported from New Brunswick, and the adventive Thanasimus formicarius Linnaeus is newly recorded from Nova Scotia and the Maritime provinces. Attalus morulus (LeConte) and Dolichosoma foveicolle (Kirby), family Melyridae, are reported for the first time for New Brunswick and the Maritime provinces. Collection, habitat data, and distribution maps are presented for these species. PMID:22539891

  6. Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in down syndrome

    SciTech Connect

    Petersen, M.B.; Frantzen, M.; Lund, C.; Olsen, B.; Poulsen, H.; Sand, A.; Tommerup, N.; Mikkelsen, M. ); Antonarakis, S.E.; Warren, A.C. ); Van Broeckhoven, C. ); Chakravarti, A.; Cox, T.K. )

    1992-09-01

    Nondisjunction in trisomy 21 has traditionally been studied by cytogenetic heteromorphisms. Those studies assumed no crossing-over on the short arm of chromosome 21. Recently, increased accuracy of detection of the origin of nondisjunction has been demonstrated by DNA polymorphism analysis. The authors describe a comparative study of cytogenetic heteromorphisms and seven PCR-based DNA polymorphism analysis. They describe a comparative study of cytogenetic heteromorphisms and seven PCR-based DNA polymorphisms for detecting the origin of the additional chromosome 21 in 68 cases of Down syndrome. The polymorphisms studied were the highly informative microsatellites at loci D21S120, D21S192, IFNAR, D21S156, HMG14, and D21S171. The meiotic stage of nondisjunction was assigned on the basis of the pericentromeric markers D21S215, D21S120, and D21S192. Only unequivocal cytogenetic results were compared with the results of the DNA analysis. The parental and meiotic division origin could be determined in 51% of the cases by using the cytogenetic markers and in 88% of the cases by using the DNA markers. Although there were no discrepancies between the two scoring systems regarding parental origin, there were eight discrepancies regarding meiotic stage of nondisjunction. The results raise the possibility of recombination between the two marker systems, particularly on the short arm. 46 refs., 2 figs., 3 tabs.

  7. [Comparative cytogenetic study of the tetraploid Matricaria chamomilla L. and Matricaria inodora L].

    PubMed

    Samatadze, T E; Amosova, A V; Mel'nikova, N V; Suslina, S N; Zagumennikova, T N; Zelenin, A V; Bykov, V A; Muravenko, O N

    2014-01-01

    A comparative cytogenetic study of the autotetraploid breed of Matricaria chamomilla L. (M. recutita L.) and Matricaria inodora L. was carried out by DAPI-banding, fluorescent hybridization in situ (FISH) with 26S and 5S rDNA probes, and analysis of meiosis. All chromosomes were identified in both karyotypeson the basis of DAPI-banding images and 26S and 5S rDNA distribution, and species-specific idiograms were composed for both M. chamomilla and M. indora taking into account the polymorphous variants of DAPI-banding images, showing the location of the 26S and 5S rDNA sites. PMID:25735163

  8. Cytogenetic Studies in Four Species of Flax (Linum spp.)

    NASA Astrophysics Data System (ADS)

    Samadi, Afsanah; Mahmodzadeh, Ahmad; Hasanzadeh Gorttapeh, Abdollah; Torkamani, Mohammad Reza

    This research a karyological investigation which was carried out in three species of Flax, which is a multipurpose and valuable plant. Plants and achenes specimens were collected and identified from different ecological regions in West-Azerbaijan and Markazi Provinces, Iran. Root tip meristems obtained from germinated of achenes were pretreated with saturated solution of α-Brumonaphtalene and fixed in Levitsky solution and stained in Aceto-Iron-Hematoxylin. Stained slides were photographed by camera equipped microscopes and five appropriate metaphase plates were used for analyzing karyotype parameters. A number of statistical parameters were also estimated for all the species to investigate karyotype asymmetry. According to the results of this study L. austeriacum species is diploid that its karyotype consists of 18 chromosomes (2n = 2x = 18) whose size are between 2.246-3.44 micron and chromosome No. 1 includes satellite. All of the chromosomes were metacenteric type. L. nervosum species, as this study explains, is diploid and its karyotype includes of 18 chromosomes (2n = 2x = 18). With size of 2.95-4.291 micron.Also according to the results of this research, L. usitatissimum species is diploied, with 30 chromosomes (2n = 2x = 30), that their size are between 1.292-2.968 micron. Type of all the chromosomes are metacentric except chromosome No. 4 that is submetacentric and its arms ratio is 1.8. The karyotype Linum spp. species consists 30 + 1 chromosome and is Anioploied. That the sizes of the chromosomes are between 1.224- 1.992 micron. Mostly chromosomes of this species are metacentric type except chromosomes No. 1 and 2. that are submetacentric. Based on investigating asymmetry, L. austeriacum is being estimated to be the most developed one among them. It needs more researches to be proved.

  9. Comparative cytogenetic study of three Macrolophus species (Heteroptera, Miridae)

    PubMed Central

    Jauset, Ana Maria; Edo-Tena, Eva; Castañé, Cristina; Agustí, Nuria; Alomar, Oscar; Grozeva, Snejana

    2015-01-01

    Abstract Macrolophus pygmaeus (Rambur, 1839) (Insecta, Heteroptera, Miridae) is a predator of key vegetable crop pests applied as a biocontrol agent in the Mediterranean region. Macrolophus pygmaeus and Macrolophus melanotoma (A. Costa, 1853) are cryptic species with great morphological similarity which results in their misidentification and negative consequences for the conservation of their populations on greenhouse and outdoor crops. In order to find out specific markers for their separation we studied the karyotype, male meiosis and heterochromatin composition of these species and additionally of a third species (as a reference one), Macrolophus costalis Fieber, 1858. We demonstrate here that all the three species share achiasmate male meiosis and sex chromosome pre-reduction. On the other hand, the species differ in karyotype, with 2n=28 (26+XY) in Macrolophus pygmaeus, 2n=27 (24+X1X2Y) in Macrolophus costalis, and 2n=34 (32+XY) in Macrolophus melanotoma, and heterochromatin distribution and composition. In addition, the species differ in sperm morphology: sperm cells of Macrolophus costalis are significantly longer with longer head and tail than those of Macrolophus melanotoma and Macrolophus pygmaeus, whereas sperm cells of Macrolophus melanotoma have a longer tail than those of Macrolophus pygmaeus. All these characters can be used as markers to identify the species, in particular the cryptic species Macrolophus melanotoma and Macrolophus pygmaeus. PMID:26753078

  10. Molecular cytogenetic studies in structural abnormalities of chromosome 13

    SciTech Connect

    Lozzio, C.B.; Bamberger, E.; Anderson, I.

    1994-09-01

    A partial trisomy 13 was detected prenatally in an amniocentesis performed due to the following ultrasound abnormalities: open sacral neural tube defect (NTD), a flattened cerebellum, and lumbar/thoracic hemivertebrae. Elevated AFP and positive acetylcholinesterase in amniotic fluid confirmed the open NTD. Chromosome analysis showed an extra acrocentric chromosome marker. FISH analysis with the painting probe 13 showed that most of the marker was derived from this chromosome. Chromosomes on the parents revealed that the mother had a balanced reciprocal translocation t(2;13)(q23;q21). Dual labeling with painting chromosomes 2 and 13 on cells from the mother and from the amniotic fluid identified the marker as a der(13)t(2;13)(p23;q21). Thus, the fetus had a partial trisomy 13 and a small partial trisomy 2p. The maternal grandfather was found to be a carrier for this translocation. Fetal demise occurred a 29 weeks of gestation. The fetus had open lumbar NTD and showed dysmorphic features, overlapping fingers and imperforate anus. This woman had a subsequent pregnancy and chorionic villi sample showed that this fetus was normal. Another case with an abnormal chromosome 13 was a newborn with partial monosomy 13 due to the presence of a ring chromosome 13. This infant had severe intrauterine growth retardation, oligohydramnios, dysmorphic features and multiple congenital microphthalmia, congenital heart disease, absent thumbs and toes and cervical vertebral anomalies. Chromosome studies in blood and skin fibroblast cultures showed that one chromosome 3 was replaced by a ring chromosome of various sizes. This ring was confirmed to be derived from chromosome 13 using the centromeric 21/13 probe.

  11. Study on the cytogenetic changes induced by benzene and hydroquinone in human lymphocytes.

    PubMed

    Peng, D; Jiaxing, W; Chunhui, H; Weiyi, P; Xiaomin, W

    2012-04-01

    Benzene (BN) is a prototypical hematotoxicant, genotoxic carcinogen, and ubiquitous environmental pollutant. Although the molecular mechanisms of BN-induced cytotoxicity and genotoxic damage are poorly understood in humans, previous studies suggested that bioactivated BN metabolites are capable of oxidative stress, cell cycle arrest, apoptosis, and DNA damage. The objective of the current study was to investigate the BN-induced cytogenetic changes and underlying mechanisms based on these hypotheses. Peripheral blood lymphocytes (PBLs) might be the targets for BN-induced cytotoxicity and genotoxicity, and therefore DNA damage responses of PBLs after exposure to different concentrations of BN (0.25, 3.5, 50 μmol/L) or BN metabolite, hydroquinone (HQ; 50, 150, 450 μmol/L) were studied in vitro. Microculture tetrazolium assay, flow cytometry, 2',7'-dichlorodihydrofluorescein-diacetate assay, comet assay, micronuclei assay, and attenuated total reflectance microspectroscope were chosen for this study. Based on the results, we reached the conclusion that different concentrations of BN or HQ significantly inhibited cell growth, induced the arrest of S phase and G2/M phase, and increased late apoptosis in a concentration-dependent manner. Furthermore, evidence was also provided to support the conclusion that BN and HQ induced DNA strand breaks and chromosomal mutations in PBL, which indicated the genotoxicity of BN and HQ. Current evidence has indicated that multiple mechanisms including dysfunction of cell cycle, programmed cell death, oxidative stress, and DNA lesions are likely to contribute to BN-induced cytogenetic changes. PMID:22297702

  12. A retrospective analysis of cytogenetic alterations in patients with newly diagnosed multiple myeloma: a single center study in Korea

    PubMed Central

    Li, Shuhua; Lim, Hyeon-Ho; Woo, Kwang-Sook; Kim, Sung-Hyun

    2016-01-01

    Background The accurate identification of cytogenetic abnormalities in multiple myeloma (MM) has become more important over recent years for the development of new diagnostic and prognostic markers. In this study, we retrospectively analyzed the cytogenetic aberrations in MM cases as an initial assessment in a single institute. Methods We reviewed the cytogenetic results from 222 patients who were newly diagnosed with MM between January 2000 and December 2015. Chromosomal analysis was performed on cultured bone marrow samples by standard G-banding technique. At least 20 metaphase cells were analyzed for karyotyping. Results Clonal chromosome abnormalities were detected in 45.0% (100/222) of the patients. Among these results, 80 cases (80.0%) had both numerical and structural chromosome abnormalities. Overall hyperdiploidy with structural cytogenetic aberrations was the most common finding (44.0%), followed by hypodiploidy with structural aberrations (28.0%). Amplification of the long arm of chromosome 1 and -13/del(13q) were the most frequent recurrent abnormalities, and were detected in 50 patients (50.0%) and 40 patients (40.0%) with clonal abnormalities, respectively. The most common abnormality involving 14q32 was t(11;14)(q13;q32), which was observed in 19 cases. Conclusion These findings demonstrate that myeloma cells exhibit complex aberrations regardless of ploidy, even from a single center in Korea. Conventional cytogenetic analysis should be included in the initial diagnostic work-up for patients suspected of having MM. PMID:27382557

  13. Mosquito cytogenetics

    PubMed Central

    Kitzmiller, James B.

    1963-01-01

    Although an intensified interest in mosquito cytogenetics in the past decade has produced a number of contributions to knowledge on this subject, the available information is still superficial and limited to a few mosquito species only. The author of this review summarizes the research done in this field between 1953 and 1962. The following are some of the achievements and some of the gaps that remain to be filled. Karyotypes of several species of Anopheles, Aedes and Culex conform to the general pattern 2n=6, with heterosomes distinguishable only in Anopheles. At least three different karyotypes are present in Anopheles. Salivary gland chromosome maps are now available for several anopheline species, but are still lacking for Culex and Aedes. No precise correlation may yet be made between the frequency of chromosomal aberrations and the degree of insecticide-resistance. Sexual differences in the salivary X-chromosomes have been reported for several species of Anopheles. Chromosomal polymorphism is common in some anophelines, but rare in others. Chromosomal mutation has been induced by means of X-rays. In his conclusions, the author stresses that prospects are especially good for evolutionary and genetic studies involving chromosomal polymorphism. PMID:14058227

  14. Molecular Cytogenetics in Childhood Acute Lymphoblastic Leukemia: A Hospital-Based Observational Study

    PubMed Central

    Pandita, Aakash; Harish, Rekha; Digra, Sanjeev K; Raina, Alok; Sharma, Annie Arvind; Koul, Ashwani

    2015-01-01

    OBJECTIVE This study was conducted to determine the frequency of chromosomal aberrations in children aged <19 years with newly diagnosed acute lymphoblastic leukemia (ALL), attending/admitted in the Department of Pediatrics and Radiotherapy, Government Medical College, Jammu. Furthermore, we aimed to study the correlation between the cytogenetic molecular abnormalities and the immediate clinical outcome (induction of remission). MATERIALS AND METHODS This was a prospective study conducted over a period of 2 years (May 2011 to May 2013) in a tertiary care hospital in India. Forty pediatric (1–19 years) patients (18 males, 22 females; M: F = 0.8 : 1) with newly diagnosed ALL were studied for molecular cytogenetic analysis. Written consent was obtained from the parents of the patients. Bone marrow aspiration was done for making the diagnosis of ALL. Children lost to follow-up and who failed to give consent were excluded from the survey. Host factors and clinical parameters were obtained from patients. RESULTS Bone marrow aspirate samples of 40 diagnosed cases of ALL were subjected to routine cytogenetic analysis, and reverse transcription-polymerase chain reaction (RT-PCR) technique was used for molecular analysis. Well-spread metaphase plates were obtained in 18/40 (45%) cases for analysis. RT-PCR revealed abnormal genes in 20/40 (50%) patients. The results of molecular cytogenetic analysis were correlated with patients’ clinical and hematological parameters for risk stratification and immediate outcome (induction of remission). Eighteen out of 40 (45%) cases revealed no abnormality. Among the remaining 22 cases, 8 had TEL–AML1 (20%), 6 had BCR–ABL (15%), 4 had MLL–AF4 (10%), 2 had E2A–PBX1 (5%) fusion genes, and 2 had hyperdiploidy. To conclude, a higher proportion of cases in this study showed adverse translocations such as t (9;22), t (4;11), and t (1;19) compared to that reported in literature. CONCLUSION RT-PCR assay was useful in detecting the

  15. Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.

    PubMed Central

    McDermott, A; Walters, R; Howell, R T; Gardner, A

    1983-01-01

    Results of detailed clinical and cytogenetic studies on 13 mentally retarded males and two heterozygous females (one normal and one retarded) are reported. Reference is made to technical modifications to enhance the incidence of expression of the fragile X. The addition of excess methionine to the fibroblast cultures (final concentration of 115 mg/l medium TC 199) was found to be particularly valuable, increasing the incidence of expression up to four-fold, and enabling the demonstration of the fragile X in fibroblasts when it could not be demonstrated in blood cultures in at least one case. Studies on replication patterns of the X chromosomes in the two heterozygous females showed that the fragile X chromosome was genetically active in a significantly greater proportion of cells (74%) in the mentally retarded female, whereas the normal X was active in a similar proportion (72%) in the carrier with normal intelligence. Images PMID:6876108

  16. Methods in human cytogenetics

    SciTech Connect

    1993-12-31

    Chapter 4, discusses the various techniques used in the study human cytogenetics. The methods are discussed in historical order, from direct methods to tissue culture techniques, prenatal studies, meiotic studies, sex chromatin techniques, banding techniques, prophase banding and replication studies. Nomenclature of human chromosomes and quantitative methods are also mentioned. 60 refs., 3 figs.

  17. Cytogenetic studies on the adult T-cell leukemia in Japan.

    PubMed

    Fujita, K; Yamasaki, Y; Sawada, H; Izumi, Y; Fukuhara, S; Uchino, H

    1989-01-01

    Cytogenetic studies were performed on 16 patients with ATL seen in Northern Kyushu island; nine were patients with acute type leukemia, one with crisis type and five with lymphoma type. The serum antibody for HTLV-1 (ATLA) was positive in all patients and the phenotype of ATL cells were ERFC+, OKT3+, OKT4+, OKT6-, OKT8-, OKT10+, OKla1+/- and Tac+. Abnormal findings of chromosomes were observed in 15 patients. Thirteen patients were in near diploid range. One patient was in triploid range and one patient was in tetraploid range. The polyploid karyotypes were found only in lymphoma type patients. Trisomy 3 and trisomy 7 were observed each in three patients with acute type of ATL. The most frequent abnormal rearrangement was observed in the long arm of chromosome 6 and the break occurred at band 6q15 and 6q21 each in four patients in this series. PMID:2761289

  18. Cytogenetic studies of chromium (III) oxide nanoparticles on Allium cepa root tip cells.

    PubMed

    Kumar, Deepak; Rajeshwari, A; Jadon, Pradeep Singh; Chaudhuri, Gouri; Mukherjee, Anita; Chandrasekaran, Natarajan; Mukherjee, Amitava

    2015-12-01

    The current study evaluates the cytogenetic effects of chromium (III) oxide nanoparticles on the root cells of Allium cepa. The root tip cells of A. cepa were treated with the aqueous dispersions of Cr2O3 nanoparticles (NPs) at five different concentrations (0.01, 0.1, 1, 10, and 100μg/mL) for 4hr. The colloidal stability of the nanoparticle suspensions during the exposure period were ascertained by particle size analyses. After 4hr exposure to Cr2O3 NPs, a significant decrease in mitotic index (MI) from 35.56% (Control) to 35.26% (0.01μg/mL), 34.64% (0.1μg/mL), 32.73% (1μg/mL), 29.6% (10μg/mL) and 20.92% (100μg/mL) was noted. The optical, fluorescence and confocal laser scanning microscopic analyses demonstrated specific chromosomal aberrations such as-chromosome stickiness, chromosome breaks, laggard chromosome, clumped chromosome, multipolar phases, nuclear notch, and nuclear bud at different exposure concentrations. The concentration-dependent internalization/bio-uptake of Cr2O3 NPs may have contributed to the enhanced production of anti oxidant enzyme, superoxide dismutase to counteract the oxidative stress, which in turn resulted in observed chromosomal aberrations and cytogenetic effects. These results suggest that A. cepa root tip assay can be successfully applied for evaluating environmental risk of Cr2O3 NPs over a wide range of concentrations. PMID:26702979

  19. Molecular cytogenetic studies in the ladybird beetle Henosepilachna argus Geoffroy, 1762 (Coleoptera, Coccinellidae, Epilachninae)

    PubMed Central

    Mora, Pablo; Vela, Jesús; Sanllorente, Olivia; Palomeque, Teresa; Lorite, Pedro

    2015-01-01

    Abstract The ladybird Henosepilachna argus Geoffroy, 1762 has been cytogenetically studied. In addition we have conducted a review of chromosome numbers and the chromosomal system of sex determination available in the literature in species belonging to the genus Henosepilachna and in its closely related genus Epilachna. Chromosome number of Henosepilachna argus was 2n=18, including the sex chromosome pair, a common diploid chromosome number within the tribe Epilachnini. The study of prophase I meiotic chromosomes showed the typical Xyp “parachute” bivalent as in the majority of species of Coccinellidae. C-banding and fluorescent staining with AT-specific DAPI fluorochrome dye have been carried out for the first time in H. argus. C-banding technique revealed that heterochromatic blocks are pericentromerically located and DAPI staining showed that this heterochromatin is AT rich. Fluorescence in situ hybridizations using rDNA and the telomeric TTAGG sequence as probes have been carried out. FISH using rDNA showed that the nucleolar organizing region is located on the short arm of the X chromosome. FISH with the telomeric sequence revealed that in this species telomeres of chromosomes are composed of the pentanucleotide TTAGG repeats. This is the first study on the telomeric sequences in Coccinellidae. PMID:26312131

  20. Molecular cytogenetic studies in the ladybird beetle Henosepilachnaargus Geoffroy, 1762 (Coleoptera, Coccinellidae, Epilachninae).

    PubMed

    Mora, Pablo; Vela, Jesús; Sanllorente, Olivia; Palomeque, Teresa; Lorite, Pedro

    2015-01-01

    The ladybird Henosepilachnaargus Geoffroy, 1762 has been cytogenetically studied. In addition we have conducted a review of chromosome numbers and the chromosomal system of sex determination available in the literature in species belonging to the genus Henosepilachna and in its closely related genus Epilachna. Chromosome number of Henosepilachnaargus was 2n=18, including the sex chromosome pair, a common diploid chromosome number within the tribe Epilachnini. The study of prophase I meiotic chromosomes showed the typical Xyp "parachute" bivalent as in the majority of species of Coccinellidae. C-banding and fluorescent staining with AT-specific DAPI fluorochrome dye have been carried out for the first time in H. argus. C-banding technique revealed that heterochromatic blocks are pericentromerically located and DAPI staining showed that this heterochromatin is AT rich. Fluorescence in situ hybridizations using rDNA and the telomeric TTAGG sequence as probes have been carried out. FISH using rDNA showed that the nucleolar organizing region is located on the short arm of the X chromosome. FISH with the telomeric sequence revealed that in this species telomeres of chromosomes are composed of the pentanucleotide TTAGG repeats. This is the first study on the telomeric sequences in Coccinellidae. PMID:26312131

  1. Nondisjunction of chromosome 21: Comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin

    SciTech Connect

    Lorber, B.J.; Grantham, M.; Peters, J.; Hassold, T.J. ); Willard, H.F. )

    1992-12-01

    In the present report, the authors summarize studies aimed at examining the reliability of chromosome heteromorphisms in analyses of chromosome 21, nondisjunction. They used two cytogenetic approaches - fluorescent in sity hybridization (FISH) to repetitive sequences on 21p and traditional Q-banding - to distinguish chromosome 21 homologues and then compared the results of these studies with those obtained by DNA markers. Using a conservative scoring system for Q-banding and FISH heteromorphisms, they were able to specify the parental origin of trisomy in 10% of cases, in contrast, DNA marker studies were informative for parental origin in almost all cases. The results of the molecular and cytogenetic studies of parental origin concurred in all cases in which assignments were made independently using both techniques. However, in 4 of 13 cases in which the molecular studies contributed to the interpretation of the cytogenetic findings, the two results did not agree with respect to the meiotic stage of nondisjunction. A relatively high frequency of crossing-over on either the short arm or proximal long arm of chromosome 21 could explain these results and may be a mechanism leading to nondisjunction. 20 refs., 2 figs., 4 tabs.

  2. A Cytogenetic Study of Repeat-breeder Heifers and Their Embryos

    PubMed Central

    King, W. A.; Linares, T.

    1983-01-01

    Twenty-three Swedish Red and White, Swedish Friesian and crossbred repeat-breeder heifers and 15 day 7 embryos produced by 11 of these heifers were subjected to cytogenetic analysis. Three heifers were found to have abnormal karyotypes; two were heterozygous for the 1/29 translocation, and one was an X-trisomy. Chromosomal anomalies which might account for embryonic death and subsequent repeat-breeding could not be detected in the embryos, however, seven out of the 15 could not be karyotyped due to the lack of cells in metaphase. The possibility of chromosomal anomalies in these embryos could not be ruled out. Three embryos produced by the heifers carrying the translocation were among those which lacked cells in mitosis. Two unfertilized ova were recovered from the X-trisomy heifer suggesting that fertilization failure rather than embryonic death was the cause of repeat-breeding. In the light of this study and similar studies in other species, it is suggested that investigations at earlier stages of development are needed. ImagesFigure 1.Figure 2. PMID:17422244

  3. Cytogenetic and molecular studies of Down syndrome individuals with transient leukemia

    SciTech Connect

    Shen, J.J.; Hassold, T.J.; Zipursky, A.

    1994-09-01

    There is an increased risk of leukemia in Down syndrome (DS) patients with estimates ranging from 14 to 30 times the incidence rate observed for normal children. Furthermore, one subtype of leukemia, called transient myeloproliferative disorder, or transient leukemia (TL), occurs almost exclusively in DS infants. The basis of the association between DS and leukemia is unknown but we and others have hypothesized that it may be attributable to the mechanism of origin of the extra chromosome. Therefore, we have initiated a cytogenetic and molecular study of nondisjunction in leukemic DS individuals. To date, we have obtained blood and/or tissue samples from 54 individuals, consisting of 16 cases with TL and 6 with acute megakaryoblastic leukemia (postulated to be related to TL), and 32 cases of other forms of leukemia (15 ALL, 10 AML, 7 others). Our preliminary data suggest significant differences between DS children with TL and those with other types of leukemia or DS individuals with no history of leukemia. For example, the TL cases have a highly significant increase in the frequency of {open_quotes}atypical{close_quotes} constitutional karyotypes (i.e. mosaic trisomies, rings, isochromosomes) and are almost always male. Initial gene mapping studies of these cases aimed at identifying loci important in the genesis of TL will be presented and compared to similar data from DS individuals with other forms of leukemia and those without leukemia.

  4. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

    PubMed

    Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

    2016-02-01

    Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. PMID:26507407

  5. Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys).

    PubMed

    Vorsanova, S G; Yurov, Y B; Ulas, V Y; Demidova, I A; Sharonin, V O; Kolotii, A D; Gorbatchevskaia, N L; Beresheva, A K; Soloviev, I V

    2001-12-01

    Rett syndrome (RTT) is a severe neurodevelopmental disorder with an incidence of 2.5% in mentally retarded girls in Russia. We have performed cytogenetic studies of 60 patients (57 girls and three boys) with a clinical picture of RTT, selected according to the criteria for diagnosis of RTT defined by B. Hagberg et al. in 1996. Collection of DNA samples and fixed cell suspensions of RTT patients (37 girls and two boys) and their parents (27 patients) was established for molecular studies, for example analysis of MECP2 mutations in a Russian cohort of RTT patients. Among 60 patients 57 girls with a clinical picture of RTT had normal female karyotype (46,XX), one boy had normal male karyotype in peripheral lymphocytes (46,XY) and two boys had a mosaic form of Kleinfelter's syndrome (47,XXY/46,XY) in peripheral lymphocytes or muscle cells (with MeCP2 mutation R270X). Twenty-four mothers and parents of RTT girls had normal karyotype, two mothers had mosaic forms of Turner syndrome (45,X/46,XX) and one had mosaic karyotype (47,XX,+mar/48,XXX,+mar). We analyzed chromosome X in lymphocytes of 57 affected girls with a clinical picture of RTT using the 5-bromo-2'-deoxyuridine+Giemsa staining technique. A specific type of inactive chromosome X (so-called type 'C') with unusual staining of chromatin in the long arm of chromosome X was found in 55 (from 57) girls with RTT. This technique was positively used for presymptomatic diagnosis of RTT in five girls in earlier stages of the disease. We believe that the phenomenon of altered chromatin conformation in inactive chromosome X could be used as a laboratory test for preclinical diagnosis of the RTT. PMID:11738872

  6. [Study of cytogenetic and cytotoxic effect of non-contact electrochemically-activated waters in the five organs of rats].

    PubMed

    Sycheva, L P; Mikhaĭlova, R I; Beliaeva, N N; Zhurkov, V S; Iurchenko, V V; Savostikova, O N; Alekseeva, A V; Kribtsova, E K; Kovalenko, M A; Akhal'tseva, L V; Sheremet'eva, S M; Iurtseva, N A; Murav'eva, L V; Kamenetskaia, D B

    2014-01-01

    For the first time the multiorgan karyological analysis of five organs of rats was applied for the study of the cytogenetic and cytotoxic action of the four types of non-contact electrochemically activated water in the 30-days in vivo experiment. The effects of investigated waters were not detected in bone marrow polychromatic erythrocytes. "Anolyte" (ORP = -362 mV) did not have a negative effect on rats. "Catholyte-5" (ORP = +22 mV) and "Catholyte-25" (ORP = -60 mV) induced cytogenetic abnormalities in the bladder and fore stomach. The same catholytes and "Catholyte-40" (ORP = -10 mV) changed the proliferation indices: increased the mitotic index in the fore stomach epithelium and reduced the frequency of binucleated cells in the fore stomach, bladder and lungs. The increase in the rate of cells with cytogenetic abnormalities on the background of the promotion of mitotic activity can be considered as a manifestation of the negative effect, typical for catolytes, but the effect of each out of them has its own features. PMID:25950046

  7. Radiation exposure and chromosome abnormalities. Human cytogenetic studies at the National Institute of Radiological Sciences, Japan, 1963-1988

    SciTech Connect

    Ishihara, T.; Kohno, S.; Minamihisamatsu, M. )

    1990-03-01

    The results of human cytogenetic studies performed at the National Institute of Radiological Sciences (NIRS), Chiba, Japan for about 25 years are described. The studies were pursued primarily under two major projects: one involving people exposed to radiation under various conditions and the other involving patients with malignant diseases, especially leukemias. Whereas chromosome abnormalities in radiation-exposed people are excellent indicators of radiation exposure, their behavior in bone marrow provide useful information for a better understanding of chromosome abnormalities in leukemias and related disorders. The role of chromosome abnormalities in the genesis and development of leukemia and related disorders is considered, suggesting a view for future studies in this field.

  8. Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

    PubMed

    Čiuladaitė, Živilė; Burnytė, Birutė; Vansevičiūtė, Danutė; Dagytė, Evelina; Kučinskas, Vaidutis; Utkus, Algirdas

    2015-01-01

    Ring chromosome 10 is a rare cytogenetic finding. Only a few cases with molecular cytogenetic definition have been reported. We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart defect, severe pes equinovarus, and bronchial asthma. The chromosomal aberration was defined by chromosome microarray analysis, which revealed two deletions at 10pter (3.68 Mb) and 10qter (4.26 Mb). The clinical features are very similar to those reported in other clinical cases with ring chromosome 10, excluding bronchial asthma, which has not been previously reported in individuals with ring chromosome 10. PMID:25922618

  9. Cytogenetics and cladistics.

    PubMed

    Dobigny, Gauthier; Ducroz, Jean-François; Robinson, Terence J; Volobouev, Vitaly

    2004-06-01

    Chromosomal data have been underutilized in phylogenetic investigations despite the obvious potential that cytogenetic studies have to reveal both structural and functional homologies among taxa. In large part this is associated with difficulties in scoring conventional and molecular cytogenetic information for phylogenetic analysis. The manner in which chromosomal data have been used by most authors in the past was often conceptionally flawed in terms of the methods and principles underpinning modern cladistics. We present herein a review of the different methods employed, examine their relative strengths, and then outline a simple approach that considers the chromosomal change as the character, and its presence or absence the character state. We test this using one simulated and several empirical data sets. Features that are unique to cytogenetic investigations, including B-chromosomes, heterochromatic additions/deletions, and the location and number of nucleolar organizer regions (NORs), as well as the weighting of chromosomal characters, are critically discussed with regard to their suitability for phylogenetic reconstruction. We conclude that each of these classes of data have inherent problems that limit their usefulness in phylogenetic analyses and in most of these instances, inclusion should be subject to rigorous appraisal that addresses the criterion of unequivocal homology. PMID:15503674

  10. Heterogeneous cytogenetic subgroups and outcomes in childhood acute megakaryoblastic leukemia: a retrospective international study.

    PubMed

    Inaba, Hiroto; Zhou, Yinmei; Abla, Oussama; Adachi, Souichi; Auvrignon, Anne; Beverloo, H Berna; de Bont, Eveline; Chang, Tai-Tsung; Creutzig, Ursula; Dworzak, Michael; Elitzur, Sarah; Fynn, Alcira; Forestier, Erik; Hasle, Henrik; Liang, Der-Cherng; Lee, Vincent; Locatelli, Franco; Masetti, Riccardo; De Moerloose, Barbara; Reinhardt, Dirk; Rodriguez, Laura; Van Roy, Nadine; Shen, Shuhong; Taga, Takashi; Tomizawa, Daisuke; Yeoh, Allen E J; Zimmermann, Martin; Raimondi, Susana C

    2015-09-24

    Comprehensive clinical studies of patients with acute megakaryoblastic leukemia (AMKL) are lacking. We performed an international retrospective study on 490 patients (age ≤18 years) with non-Down syndrome de novo AMKL diagnosed from 1989 to 2009. Patients with AMKL (median age 1.53 years) comprised 7.8% of pediatric AML. Five-year event-free (EFS) and overall survival (OS) were 43.7% ± 2.7% and 49.0% ± 2.7%, respectively. Patients diagnosed in 2000 to 2009 were treated with higher cytarabine doses and had better EFS (P = .037) and OS (P = .003) than those diagnosed in 1989 to 1999. Transplantation in first remission did not improve survival. Cytogenetic data were available for 372 (75.9%) patients: hypodiploid (n = 18, 4.8%), normal karyotype (n = 49, 13.2%), pseudodiploid (n = 119, 32.0%), 47 to 50 chromosomes (n = 142, 38.2%), and >50 chromosomes (n = 44, 11.8%). Chromosome gain occurred in 195 of 372 (52.4%) patients: +21 (n = 106, 28.5%), +19 (n = 93, 25.0%), +8 (n = 77, 20.7%). Losses occurred in 65 patients (17.5%): -7 (n = 13, 3.5%). Common structural chromosomal aberrations were t(1;22)(p13;q13) (n = 51, 13.7%) and 11q23 rearrangements (n = 38, 10.2%); t(9;11)(p22;q23) occurred in 21 patients. On the basis of frequency and prognosis, AMKL can be classified to 3 risk groups: good risk-7p abnormalities; poor risk-normal karyotypes, -7, 9p abnormalities including t(9;11)(p22;q23)/MLL-MLLT3, -13/13q-, and -15; and intermediate risk-others including t(1;22)(p13;q13)/OTT-MAL (RBM15-MKL1) and 11q23/MLL except t(9;11). Risk-based innovative therapy is needed to improve patient outcomes. PMID:26215111

  11. Cytogenetic studies in dogs after total body irradiation and allogeneic transfusion with cryopreserved blood mononuclear cells: observations in long-term chimeras

    SciTech Connect

    Carbonell, F.; Calvo, W.; Fliedner, T.M.; Kratt, E.; Gerhartz, H.; Koerbling, M.; Nothdurft, W.; Ross, W.M.

    1984-03-01

    Cytogenetic studies were performed on two dog groups after total body irradiation and allogeneic transfusion with cryopreserved blood mononuclear cells. The first group of dogs was transfused with unseparated leukocytes and suffered from graft-versus-host disease (GvHD). Cytogenetic studies demonstrated only cells of donor origin in all dogs of this group. The second group of animals was transfused with fraction 2 of a discontinuous albumin gradient. The dogs of this group did not develop GvHD, and the cytogenetic studies showed the presence of a mosaic of cells from donor and recipient origin in all of them. These results suggest that the GvHD may suppress autochthonous regeneration.

  12. Cytogenetic studies of stainless steel welders using the tungsten inert gas and metal inert gas methods for welding.

    PubMed

    Jelmert, O; Hansteen, I L; Langård, S

    1995-03-01

    Cytogenetic damage was studied in lymphocytes from 23 welders using the Tungsten Inert Gas (TIG), and 21 welders using the Metal Inert Gas (MIG) and/or Metal Active Gas (MAG) methods on stainless steel (SS). A matched reference group I, and a larger reference group II of 94 subjects studied during the same time period, was established for comparison. Whole blood conventional cultures (CC), cultures in which DNA synthesis and repair were inhibited (IC), and the sister chromatid exchange (SCE) assay were applied in the study. For the CC a statistically significant decrease in chromosome breaks and cells with aberrations was found for both TIG/SS and MIG/MAG/SS welders when compared with reference group II. A non-significant decrease was found for the corresponding parameters for the two groups of welders when compared with their matched referents. A statistically significant negative association was found between measurements of total chromium (Cr) in inhaled air and SCE, and a weaker negative correlation with hexavalent Cr (Cr(VI)) in air. In conclusion, no cytogenetic damage was found in welders exposed to the TIG/SS and MIG/MAG/SS welding fumes with low content of Cr and Ni. On the contrary, a decline in the prevalence of chromosomal aberrations was indicated in the TIG/SS and MIG/MAG/SS welders, possibly related to the suggested enhancement of DNA repair capacity at slightly elevated exposures. PMID:7885396

  13. Cytogenetics of melanoma: a review.

    PubMed

    James, Aaron W; Chang, Le; Shrestha, Swati; Cochran, Alistair; Binder, Scott; Tirado, Carlos A

    2014-01-01

    Malignant melanoma is an aggressive cutaneous neoplasm whose incidence has continued to increase worldwide. Currently, histopathologic examination of specimens is the gold standard for the diagnosis and categorization of melanoma. Cytogenetic analysis represents a powerful, and currently underused, adjunct to traditional histologic examination in distinguishing nevi and melanomas. Chromosomal studies have shown that malignant melanomas often contain multiple chromosomal alterations, most commonly of chromosomes 1, 6, 7, 9, 10 and 11. These chromosomes often include genes within the MAPK molecular pathway, which is involved in the development and progression of melanoma. Fluorescence in situ hybridization (FISH) can detect a number of recurrent anomalies, and commercially available kits for melanoma detection have been devised. The utility of cytogenetics in melanocytic lesions at certain anatomic sites has been evaluated, including acral lesions, uveal lesions, and lymph node metastases. Recurring cytogenetic anomalies have been defined in various challenging histologic subtypes, such as desmoplastic melanomas and Spitzoid lesions. Cytogenetic analysis may also be used to provide supplementary information in prognostication, particularly in uveal melanomas. We provide a brief review of the molecular pathways found in melanoma and a summary of what is known and remains unknown regarding cytogenetic aberrations associated with malignant melanoma. PMID:26030295

  14. The significance of cytogenetics for the study of karyotype evolution and taxonomy of water bugs (Heteroptera, Belostomatidae) native to Argentina.

    PubMed

    Gabriela, Chirino Mónica; Papeschi, Alba Graciela; Bressa, María José

    2013-01-01

    Male meiosis behaviour and heterochromatin characterization of three big water bug species were studied. Belostoma dentatum (Mayr, 1863), Belostoma elongatum Montandon, 1908 and Belostoma gestroi Montandon, 1903 possess 2n = 26 + X1X2Y (male). In these species, male meiosis is similar to that previously observed in Belostoma Latreille, 1807. In general, autosomal bivalents show a single chiasma terminally located and divide reductionally at anaphase I. On the other hand, sex chromosomes are achiasmatic, behave as univalents and segregate their chromatids equationally at anaphase I. The analysis of heterochromatin distribution and composition revealed a C-positive block at the terminal region of all autosomes in Belostoma dentatum, a C-positive block at the terminal region and C-positive interstitial dots on all autosomes in Belostoma elongatum, and a little C-positive band at the terminal region of autosomes in Belostoma gestroi. A C-positive band on one bivalent was DAPI negative/CMA3 positive in the three species. The CMA3-bright band, enriched in GC base pairs, was coincident with a NOR detected by FISH. The results obtained support the hypothesis that all species of Belostoma with multiple sex chromosome systems preserve NORs in autosomal bivalents. The karyotype analyses allow the cytogenetic characterization and identification of these species belonging to a difficult taxonomic group. Besides, the cytogenetic characterization will be useful in discussions about evolutionary trends of the genome organization and karyotype evolution in this genus. PMID:24260694

  15. The significance of cytogenetics for the study of karyotype evolution and taxonomy of water bugs (Heteroptera, Belostomatidae) native to Argentina

    PubMed Central

    Gabriela, Chirino Mónica; Papeschi, Alba Graciela; Bressa, María José

    2013-01-01

    Abstract Male meiosis behaviour and heterochromatin characterization of three big water bug species were studied. Belostoma dentatum (Mayr, 1863), Belostoma elongatum Montandon, 1908 and Belostoma gestroi Montandon, 1903 possess 2n = 26 + X1X2Y (male). In these species, male meiosis is similar to that previously observed in Belostoma Latreille, 1807. In general, autosomal bivalents show a single chiasma terminally located and divide reductionally at anaphase I. On the other hand, sex chromosomes are achiasmatic, behave as univalents and segregate their chromatids equationally at anaphase I. The analysis of heterochromatin distribution and composition revealed a C-positive block at the terminal region of all autosomes in Belostoma dentatum, a C-positive block at the terminal region and C-positive interstitial dots on all autosomes in Belostoma elongatum, and a little C-positive band at the terminal region of autosomes in Belostoma gestroi. A C-positive band on one bivalent was DAPI negative/CMA3 positive in the three species. The CMA3-bright band, enriched in GC base pairs, was coincident with a NOR detected by FISH. The results obtained support the hypothesis that all species of Belostoma with multiple sex chromosome systems preserve NORs in autosomal bivalents. The karyotype analyses allow the cytogenetic characterization and identification of these species belonging to a difficult taxonomic group. Besides, the cytogenetic characterization will be useful in discussions about evolutionary trends of the genome organization and karyotype evolution in this genus. PMID:24260694

  16. Cytogenetic study of heptapterids (Teleostei, Siluriformes) with particular respect to the Nemuroglanis subclade.

    PubMed

    Kantek, Daniel Luis Zanella; Moreira Peres, Wellington Adriano; Moreira-Filho, Orlando

    2015-01-01

    The catfish family Heptapteridae (order Siluriformes) is endemic to the Neotropics and is one of the most common of the fish families in small bodies of water. Although over 200 species have been identified in this family, very few have been characterized cytogenetically. Here, we analyze the chromosome genomes of four species of Heptapteridae: Cetopsorhamdiaiheringi (Schubart & Gomes, 1959), 2n = 58, comprising 28 metacentric (m) + 26 submetacentric (sm) + 4 subtelomeric (st) chromosomes; Pimelodellavittata (Lütken, 1874), 2n = 46, comprising 16m + 22sm + 8st; Rhamdiapropequelen (Quoy & Gaimard, 1824), 2n = 58 comprising 26m + 16sm + 14st + 2 acrocentric; and Rhamdiopsispropemicrocephala (Lütken, 1874), 2n = 56, comprising 12m + 30sm + 14st. The nucleolus organizer regions (NORs) were located in a single chromosome pair in all species. The two species that belonged to the subclade Nemuroglanis, Cetopsorhamdiaiheringi and Rhamdiapropequelen, had a diploid chromosome number of 58 and an interstitial NOR adjacent to a C(+) block located on one of the larger chromosome pairs in the complement. Our results from conventional cytogenetic techniques in combination with FISH using 18S and 5S rDNA probes corroborated the taxonomical hypothesis for the formation of the Nemuroglanis subclade. PMID:25893072

  17. Cytogenetic study of heptapterids (Teleostei, Siluriformes) with particular respect to the Nemuroglanis subclade

    PubMed Central

    Kantek, Daniel Luis Zanella; Moreira Peres, Wellington Adriano; Moreira-Filho, Orlando

    2015-01-01

    Abstract The catfish family Heptapteridae (order Siluriformes) is endemic to the Neotropics and is one of the most common of the fish families in small bodies of water. Although over 200 species have been identified in this family, very few have been characterized cytogenetically. Here, we analyze the chromosome genomes of four species of Heptapteridae: Cetopsorhamdia iheringi (Schubart & Gomes, 1959), 2n = 58, comprising 28 metacentric (m) + 26 submetacentric (sm) + 4 subtelomeric (st) chromosomes; Pimelodella vittata (Lütken, 1874), 2n = 46, comprising 16m + 22sm + 8st; Rhamdia prope quelen (Quoy & Gaimard, 1824), 2n = 58 comprising 26m + 16sm + 14st + 2 acrocentric; and Rhamdiopsis prope microcephala (Lütken, 1874), 2n = 56, comprising 12m + 30sm + 14st. The nucleolus organizer regions (NORs) were located in a single chromosome pair in all species. The two species that belonged to the subclade Nemuroglanis, Cetopsorhamdia iheringi and Rhamdia prope quelen, had a diploid chromosome number of 58 and an interstitial NOR adjacent to a C+ block located on one of the larger chromosome pairs in the complement. Our results from conventional cytogenetic techniques in combination with FISH using 18S and 5S rDNA probes corroborated the taxonomical hypothesis for the formation of the Nemuroglanis subclade. PMID:25893072

  18. A Genome-Wide Study of Cytogenetic Changes in Colorectal Cancer Using SNP Microarrays: Opportunities for Future Personalized Treatment

    PubMed Central

    Jasmine, Farzana; Rahaman, Ronald; Dodsworth, Charlotte; Roy, Shantanu; Paul, Rupash; Raza, Maruf; Paul-Brutus, Rachelle; Kamal, Mohammed; Ahsan, Habibul; Kibriya, Muhammad G.

    2012-01-01

    In colorectal cancer (CRC), chromosomal instability (CIN) is typically studied using comparative-genomic hybridization (CGH) arrays. We studied paired (tumor and surrounding healthy) fresh frozen tissue from 86 CRC patients using Illumina's Infinium-based SNP array. This method allowed us to study CIN in CRC, with simultaneous analysis of copy number (CN) and B-allele frequency (BAF) - a representation of allelic composition. These data helped us to detect mono-allelic and bi-allelic amplifications/deletion, copy neutral loss of heterozygosity, and levels of mosaicism for mixed cell populations, some of which can not be assessed with other methods that do not measure BAF. We identified associations between CN abnormalities and different CRC phenotypes (histological diagnosis, location, tumor grade, stage, MSI and presence of lymph node metastasis). We showed commonalities between regions of CN change observed in CRC and the regions reported in previous studies of other solid cancers (e.g. amplifications of 20q, 13q, 8q, 5p and deletions of 18q, 17p and 8p). From Therapeutic Target Database, we identified relevant drugs, targeted to the genes located in these regions with CN changes, approved or in trials for other cancers and common diseases. These drugs may be considered for future therapeutic trials in CRC, based on personalized cytogenetic diagnosis. We also found many regions, harboring genes, which are not currently targeted by any relevant drugs that may be considered for future drug discovery studies. Our study shows the application of high density SNP arrays for cytogenetic study in CRC and its potential utility for personalized treatment. PMID:22363777

  19. In B-cell chronic lymphocytic leukaemia chromosome 17 abnormalities and not trisomy 12 are the single most important cytogenetic abnormalities for the prognosis: a cytogenetic and immunophenotypic study of 480 unselected newly diagnosed patients.

    PubMed

    Geisler, C H; Philip, P; Christensen, B E; Hou-Jensen, K; Pedersen, N T; Jensen, O M; Thorling, K; Andersen, E; Birgens, H S; Drivsholm, A; Ellegaard, J; Larsen, J K; Plesner, T; Brown, P; Andersen, P K; Hansen, M M

    1997-01-01

    Of 560 consecutive, newly diagnosed untreated patients with B CLL submitted for chromosome study, G-banded karyotypes could be obtained in 480 cases (86%). Of these, 345 (72%) had normal karyotypes and 135 (28%) had clonal chromosome abnormalities: trisomy 12 (+12) was found in 40 cases, 20 as +12 alone (+12single), 20 as +12 with additional abnormalities (+12complex). Other frequent findings included abnormalities of 14q, chromosome 17, 13q and 6q. The immunophenotype was typical for CLL in 358 patients (CD5+, Slg(weak), mainly FMC7-) and atypical for CLL in 122 patients (25%) (CD5-, or Slg(strong) or FMC7+). Chromosome abnormalities were found significantly more often in patients with atypical (48%) than in patients with typical CLL phenotype (22%) (P < 0.00005). Also +12complex, 14q+, del6q, and abnormalities of chromosome 17 were significantly more frequent in patients with atypical CLL phenotype, whereas +12single was found equally often in patients with typical and atypical CLL phenotype. The cytomorphology of most of the +12 patients was that of classical CLL irrespective of phenotype. In univariate survival analysis the following cytogenetic findings were significantly correlated to a poor prognosis: chromosome 17 abnormalities, 14q+, an abnormal karyotype, +12complex, more than one cytogenetic event, and the relative number of abnormal mitoses. In multivariate survival analysis chromosome 17 abnormalities were the only cytogenetic findings with independent prognostic value irrespective of immunophenotype. We conclude that in patients with typical CLL immunophenotype, chromosome abnormalities are somewhat less frequent at the time of diagnosis than hitherto believed. +12single is compatible with classical CLL, and has no prognostic influence whereas chromosome 17 abnormalities signify a poor prognosis. In patients with an atypical CLL immunophenotype, chromosome abnormalities including +12complex, 14q+, del 6q and chromosome 17 are found in about 50% of the

  20. Comparative cytogenetic studies of Curimatidae (Pisces, Characiformes) from the middle Paraná River (Argentina).

    PubMed

    Brassesco, M S; Pastori, M C; Roncati, H A; Fenocchio, A S

    2004-01-01

    Almost all species of the Curimatidae family have a stable karyotype, with a diploid number of 54 metacentric (M) and submetacentric (SM) chromosomes, and one sole nucleolus organizer pair. This family has considerable specific diversity in Argentinean fluvial basins; however, no cytogenetic data are available. Eight species from the Paraná River (Argentina): Cyphocharax voga, C. spilotus, C. platanus, Steindachnerina brevipinna, S. conspersa, Curimatella dorsalis, Psectrogaster curviventris, and Potamorhina squamoralevis were analyzed cytogenetically. Chromosome preparations were obtained from direct samples and through cell culture, and they were processed for conventional, C- and nucleolar organizer region-banding. Six of the species exhibited the standard family karyotype, with 2n = 54 M-SM and fundamental number of chromosomes (FN) = 108, as well as variations in the chromosome formula, and in heterochromatic and nucleolar organizer regions. Though nucleolar organizer regions were located on only one chromosome pair, they varied in both carrier chromosomes and pairs involved. On the other hand, C. platanus showed a complement of 2n = 58 M-SM and subtelocentric with FN = 116, and P. squamoralevis presented 2n = 102, with some M-SM and a large number of acrocentric chromosomes. Even though the karyotype macrostructure appears to be conserved, the speciation process within the family has been accompanied by micro-structural rearrangements, as evidenced by pattern diversity in the heterochromatin and nucleolar organizer regions. Some changes in chromosome macrostructure have also occurred in this group, primarily in C. platanus and P. squamoralevis, in which there have been centric dissociations and inversions. PMID:15266401

  1. A Comparative Study of Proposed Human Cytogenetic Fingerprints for Radiation LET

    NASA Astrophysics Data System (ADS)

    Lucas, Joe N.; Deng, Wen

    2002-10-01

    A stable, easily measurable bioassay for past exposure to densely ionizing radiation would be of significant value to estimate environmental radiation risk. However, bioassays at present can only determine radiation doses if the radiation type or linear energy transfer (LET) is known. Our objectives are to identify the most effective cytogenetic "fingerprint" that strongly correlates with radiation LET, and is independent of dose. We in vitro irradiated human lymphocytes with 3.0 Gy 60Co γ-rays, 0.9 Gy 3H β-rays and 0.2 Gy 2.7 Mev neutrons, and conducted a detailed chromosome aberrations analyzed by combined fluorescence in situ hybridization with pan-telomere staining and specific whole chromosome painting. Among the 6 proposed radiation cytogenetic fingerprints, the ratio of total simple translocations to insertions (I ratio), showed the largest difference between low-LET 60Co γ-ray and high-LET neutron radiation. The ratios of complete exchanges to incomplete rejoinings (S(I) ratio) and dicentrics to interstitial deletions (H ratio), showed a similar significant difference between low- and high-LET radiation. Other ratios measured showed no significant difference. We conclude that Pan-telomere staining with specific whole chromosome painting allows simultaneous and objective detection of complete or incomplete chromosome exchanges and interstitial or terminal deletions in human peripheral lymphocytes. Developing a distinctive clastogenic fingerprint should facilitate better detection and estimates of high-LET radiation exposure, as well as establishing a causal connection between early exposure to densely ionizing radiation in the environment and late development of cancer.

  2. A comparative study of two marine catfish (Siluriformes, Ariidae): Cytogenetic tools for determining cytotaxonomy and karyotype evolution.

    PubMed

    Sczepanski, Thaís Saad; Noleto, Rafael Bueno; Cestari, Marta Margarete; Artoni, Roberto Ferreira

    2010-04-01

    The family Ariidae comprises approximately 130 catfish species on both warm-temperate and tropical continental shelves around the world. The systematics of the group is problematic, with several misidentification problems. In order to better understand the evolutionary relationships in the family, the present study used a cytogenetic approach to characterize two populations of Genidens genidens and two populations of Aspistor luniscutis from the southern coast of Brazil using conventional techniques and fluorescent in situ hybridization with 18S rDNA probes. The two species had the same diploid number (2n = 56), high fundamental numbers and similar banding patterns, thereby corroborating the karyotypic homogeneity proposed for the group. Single nucleolus organizer regions (NORs) were found in the genus Genidens and multiple NORs were found in Aspistor, which are considered an important cytotaxonomic marker for this genus. Karyotypic evolution trends were hypothesized, providing a better understanding of the karyotype diversity and chromosome evolution processes. PMID:20005728

  3. Overview of Clinical Cytogenetics.

    PubMed

    Gonzales, Patrick R; Carroll, Andrew J; Korf, Bruce R

    2016-01-01

    Chromosome analysis is one of the first approaches to genetic testing and remains a key component of genetic analysis of constitutional and somatic genetic disorders. Numerical or unbalanced structural chromosome abnormalities usually lead to multiple congenital anomalies. Sometimes these are compatible with live birth, usually resulting in severe cognitive and physical handicaps; other times they result in miscarriage or stillbirth. Chromosome rearrangements also occur as somatic changes in malignancies. Identification of constitutional chromosomal anomalies (anomalies present in most or all cells of the body and/or the germline) can provide important information for genetic counseling. In this unit, we introduce chromosomal microarray analysis (CMA), which is a relatively recent addition to cytogenetic technologies, and has become the recommended first-tier testing method for patients with developmental delay, intellectual disability, autism, and/or multiple congenital anomalies. We also discuss non-invasive prenatal testing/screening (NIPTS), which uses circulating cell-free fetal DNA (cfDNA) from maternal plasma to rapidly screen for autosomal and sex-chromosome aneuploidies. Cytogenetic analysis of tumors is helpful in diagnosis and in monitoring the effects of treatment. The protocols in this chapter cover the clinical study of chromosomes in nonmalignant tissues. © 2016 by John Wiley & Sons, Inc. PMID:27037488

  4. CYTOGENETIC STUDIES OF THREE TRIAZINE HERBICIDES II. IN VIVO MICRONUCLEUS STUDIES IN MOUSE BONE MARROW

    EPA Science Inventory

    Atrazine, simazine, and cyanazine are widely used preemergence and postemergence triazine herbicides that have made their way into the potable water supply of many agricultural communities. There are several contradictory studies in the literature. Our previous in vitro studies...

  5. A cytogenetic study of cows from a highly industrial or an agricultural region.

    PubMed

    Parada, R; Jaszczak, K

    1993-08-01

    An examination was made of the frequency of chromosomal aberrations and sister-chromatid exchange in the blood lymphocytes of cows from an industrial region (aluminium smelting plant, lignite quarries, briquette factory, electric plants, mechanical plants. The control group consisted of cows from an agricultural region. In cows from the industrial region a significantly higher level of chromosomal aberrations was observed than in cows from the agricultural region (5.82 +/- 0.46 vs. 2.11 +/- 0.31 per 100 cells). In older, 7-12-year-old cows from the industrial region a slightly higher level of chromosomal aberrations was observed, and a significantly higher level of gaps than in younger cows. The frequency of SCE in the blood lymphocytes of cows from the industrial region was also higher and reached 7.47 +/- 2.33 per cell, while in cows from the agricultural region it was only 6.38 +/- 1.88, but these differences were not significant statistically. However, significant differences were observed in the number of SCE between the age groups within the industrial region P < or = 0.001) in favour of the younger animals. The results obtained indicate that the industrial pollution emitted into the environment may have a genotoxic character. Thus cytogenetic examination of cattle may be a useful test for monitoring industrial pollution. PMID:7687027

  6. A follow-up cytogenetic study of workers highly exposed inside the Chernobyl sarcophagus.

    PubMed

    Khvostunov, I K; Snigiryova, G P; Moiseenko, V V; Lloyd, D C

    2015-12-01

    Data are presented on some of the engineers and scientists who regularly entered highly radioactive areas of the sarcophagus chamber constructed around the ruins of the Chernobyl reactor. Previous investigations on six of them by unstable chromosomal aberrations, quartz fibre electrometers and, in some cases, tooth electron spin resonance have all indicated high doses accumulated over several years of work inside the sarcophagus. Here, the authors present the data on eleven of the men who agreed to be monitored cytogenetically although two have since died aged 45 and 66 y. The present data were combined with the previous to examine the time-courses of these individuals' changes in their aberration frequencies. As expected, dicentric aberrations showed a clear drop down to 2-3 per 100 cells since the men ceased working inside the sarcophagus. In contrast, the translocation yields remained at a high level showing no tendency to decrease and so proved reliable for retrospective biodosimetry. These data are particularly useful in demonstrating the value of FISH long after high but protracted and fractionated exposure. PMID:25520376

  7. Cytogenetic effects of cyclamates

    SciTech Connect

    Jemison, E.W.; Brown, K.; Rivers, B.; Knight, R.

    1984-01-01

    PHA-stimulated human peripheral lymphocytes were used as a model system for assessing the in vitro effects of calcium cyclamate. Techniques of autoradiography, cytological staining, cell counting, liquid scintillation and karyotyping were used to study the cytogenetic damage and biochemical effects of calcium cyclamate when assayed in 24 hour intervals for 96 hours. The cells were exposed to 10(-2) and 10(-3) molar concentrations of calcium cyclamate in TC 199 medium with fetal calf serum and antibiotics. It was noted that the addition of cyclamate increased mitotic rate of lymphocyte cells in cultures. It was determined that calcium cyclamate impaired the synthesis of deoxribonunucleic acid (as depicted by decreased incorporation of tritiated thymidine), reduced grain counts in autoradiographs and increased chromosome aberrations in cyclamate treated PHA stimulated peripheral blood lymphocytes in vitro. Morphological changes and growth rates showed significant effects. These studies indicate that calcium cyclamate has variable significant effects on leucocytes growth and chromosome morphology.

  8. The history of human cytogenetics in India-A review.

    PubMed

    Dutta, Usha R

    2016-09-10

    It is 60years since the discovery of the correct number of chromosomes in 1956; the field of cytogenetics had evolved. The late evolution of this field with respect to other fields is primarily due to the underdevelopment of lenses and imaging techniques. With the advent of the new technologies, especially automation and evolution of advanced compound microscopes, cytogenetics drastically leaped further to greater heights. This review describes the historic events that had led to the development of human cytogenetics with a special attention about the history of cytogenetics in India, its present status, and future. Apparently, this review provides a brief account into the insights of the early laboratory establishments, funding, and the German collaborations. The details of the Indian cytogeneticists establishing their labs, promoting the field, and offering the chromosomal diagnostic services are described. The detailed study of chromosomes helps in increasing the knowledge of the chromosome structure and function. The delineation of the chromosomal rearrangements using cytogenetics and molecular cytogenetic techniques pays way in identifying the molecular mechanisms involved in the chromosomal rearrangement. Although molecular cytogenetics is greatly developing, the conventional cytogenetics still remains the gold standard in the diagnosis of various numerical chromosomal aberrations and a few structural aberrations. The history of cytogenetics and its importance even in the era of molecular cytogenetics are discussed. PMID:26850130

  9. Cytogenetic studies in six species of Scinax (Anura, Hylidae) clade Scinax ruber from northern and northeastern Brazil.

    PubMed

    Nogueira, Lídia; Zanoni, Juliani Bruna; Solé, Mirco; Affonso, Paulo Roberto Antunes de Mello; Siqueira, Sérgio; Sampaio, Iracilda

    2015-05-01

    Scinax species are still underrepresented in cytogenetic studies, mainly with respect to populations from northeastern and northern Brazil. In this study, we provide new chromosomal information on Scinax boesemani, S. camposseabrai, S. garbei, S. pachycrus, S. trilineatus and S. x-signatus, all belonging to clade S. ruber. They were collected at two locations in the Caatinga biome (northeastern Brazil) and at one in the Amazon (northern Brazil) biomes. Chromosomes were analyzed by conventional staining, C-banding, Ag-NOR staining, and fluorochrome staining. All species shared a modal diploid value of 2n = 24 and fundamental arm number (FN) of 48. Moreover, both chromosomal size and morphology were similar to other species in this Scinaxclade. C-banding revealed centromeric heterochromatin in all species, along with terminal species-specific C-bands in some species. Active nucleolar organizer regions (Ag-NORs) were identified at 11q in most species, except for S. boesemani and S. garbei (Ag-NORs at interstitial region of 8q). Differing from most anurans, GC-rich regions were not restricted to NORs, but also coincident with some centromeric and terminal C-bands. These data contribute to the cytotaxonomy of Scinax by providing chromosomal markers and demonstrating the occurrence of microstructural rearrangements and inversions on chromosomal evolution of Scinax. PMID:26273218

  10. Cytogenetic studies in six species of Scinax (Anura, Hylidae) clade Scinax ruber from northern and northeastern Brazil

    PubMed Central

    Nogueira, Lídia; Zanoni, Juliani Bruna; Solé, Mirco; Affonso, Paulo Roberto Antunes de Mello; Siqueira, Sérgio; Sampaio, Iracilda

    2015-01-01

    Scinax species are still underrepresented in cytogenetic studies, mainly with respect to populations from northeastern and northern Brazil. In this study, we provide new chromosomal information on Scinax boesemani, S. camposseabrai, S. garbei, S. pachycrus, S. trilineatus and S. x-signatus, all belonging to clade S. ruber. They were collected at two locations in the Caatinga biome (northeastern Brazil) and at one in the Amazon (northern Brazil) biomes. Chromosomes were analyzed by conventional staining, C-banding, Ag-NOR staining, and fluorochrome staining. All species shared a modal diploid value of 2n = 24 and fundamental arm number (FN) of 48. Moreover, both chromosomal size and morphology were similar to other species in this Scinaxclade. C-banding revealed centromeric heterochromatin in all species, along with terminal species-specific C-bands in some species. Active nucleolar organizer regions (Ag-NORs) were identified at 11q in most species, except for S. boesemani and S. garbei (Ag-NORs at interstitial region of 8q). Differing from most anurans, GC-rich regions were not restricted to NORs, but also coincident with some centromeric and terminal C-bands. These data contribute to the cytotaxonomy of Scinax by providing chromosomal markers and demonstrating the occurrence of microstructural rearrangements and inversions on chromosomal evolution of Scinax. PMID:26273218

  11. Cytogenetic risk stratification in chronic myelomonocytic leukemia

    PubMed Central

    Such, Esperanza; Cervera, José; Costa, Dolors; Solé, Francesc; Vallespí, Teresa; Luño, Elisa; Collado, Rosa; Calasanz, María J.; Hernández-Rivas, Jesús M.; Cigudosa, Juan C.; Nomdedeu, Benet; Mallo, Mar; Carbonell, Felix; Bueno, Javier; Ardanaz, María T.; Ramos, Fernando; Tormo, Mar; Sancho-Tello, Reyes; del Cañizo, Consuelo; Gómez, Valle; Marco, Victor; Xicoy, Blanca; Bonanad, Santiago; Pedro, Carmen; Bernal, Teresa; Sanz, Guillermo F.

    2011-01-01

    Background The prognostic value of cytogenetic findings in chronic myelomonocytic leukemia is unclear. Our purpose was to evaluate the independent prognostic impact of cytogenetic abnormalities in a large series of patients with chronic myelomonocytic leukemia included in the database of the Spanish Registry of Myelodysplastic Syndromes. Design and Methods We studied 414 patients with chronic myelomonocytic leukemia according to WHO criteria and with a successful conventional cytogenetic analysis at diagnosis. Different patient and disease characteristics were examined by univariate and multivariate methods to establish their relationship with overall survival and evolution to acute myeloid leukemia. Results Patients with abnormal karyotype (110 patients, 27%) had poorer overall survival (P=0.001) and higher risk of acute myeloid leukemia evolution (P=0.010). Based on outcome analysis, three cytogenetic risk categories were identified: low risk (normal karyotype or loss of Y chromosome as a single anomaly), high risk (presence of trisomy 8 or abnormalities of chromosome 7, or complex karyotype), and intermediate risk (all other abnormalities). Overall survival at five years for patients in the low, intermediate, and high risk cytogenetic categories was 35%, 26%, and 4%, respectively (P<0.001). Multivariate analysis confirmed that this new CMML-specific cytogenetic risk stratification was an independent prognostic variable for overall survival (P=0.001). Additionally, patients belonging to the high-risk cytogenetic category also had a higher risk of acute myeloid leukemia evolution on univariate (P=0.001) but not multivariate analysis. Conclusions Cytogenetic findings have a strong prognostic impact in patients with chronic myelomonocytic leukemia. PMID:21109693

  12. [Cytological and cytogenetic studies of cells of Mongolian gerbils' retinal epithelium and marrow following 12-day space flight].

    PubMed

    Vorozhtsova, S V; Abrosimova, A N; Fedorenko, B S; Rakov, D V

    2011-01-01

    The paper report the results of studying mitotic activity and cytogenetic disorders in marrow and retinal epithelium cells of Mongolian gerbils in 21 - 23 hrs. of landing space apparatus Foton-M3, and the animals of synchronous and vivarium controls. Cells of the space flown gerbils displayed a statistically significant (p < 0.05) gain in the ratio of mitosis prophases and metaphases to the sum of ana- and telophases (1.7 +/- 0.3 and 2 +/- 0.1, respectively) as compared to these parameters in the synchronous and vivarium controls, where the ratio made up 0.6 +/- 0.1 and 0.7 +/- 0.1, respectively. Frequency of aberrant mytoses in the form of bridges was increased equally in both types of cells. Patterns of chromosome damages occurred in flight infer that the major portion of changes was not due to chromosome breakage but adhesion and ensuing wrong disjunction. These results seem to have been caused by acute g-stress to organism during re-entry and return from micro-g to the normal gravity. PMID:21675195

  13. An extended fluorescence in situ hybridization approach for the cytogenetic study of cholangiocarcinoma on endoscopic retrograde cholangiopancreatography brushing cytology preparations.

    PubMed

    Vasilieva, Larisa E; Papadhimitriou, Stefanos I; Alexopoulou, Alexandra; Pavlidis, Dimitris; Kostopoulos, Ioannis; Georgiakaki, Maria; Xinopoulos, Dimitrios; Romanos, Andreas; Dourakis, Spyridon P

    2013-10-01

    The cytological diagnosis of cholangiocarcinoma has been significantly aided by applying a 4-probe fluorescence in situ hybridization system on endoscopic retrograde cholangiopancreatography brushing smears, aiming mainly at the detection of hyperdiploidy. However, this approach adds little to our understanding of the genetic background of the disease. With the prospect of obtaining additional data on chromosomal aberrations, we have extended the fluorescence in situ hybridization study, with the application of 4 independent 2-probe systems in 35 patients with documented cholangiocarcinoma. Fluorescence in situ hybridization assays were performed on endoscopic retrograde cholangiopancreatography brushing smears, with probes for the 7q31, 11q13 (CCND1), 17p53 (TP53), and 9p21 (INK4 locus) bands, together with the respective centromeric probe. Hyperdiploidy, involving at least 2 of the 4 chromosomes targeted, was found in 31 patients. 17p13 deletion was detected in 3, and 9p21 deletion, in 5 of the hyperdiploid cases, with the 2 aberrations concurrent in 1. CCND1 amplification was found in 1 case as the sole abnormality and in another together with hyperdiploidy, but in apparently unrelated clones. This work indicates that interphase fluorescence in situ hybridization is a practical and useful tool for the cytogenetic study of cholangiocarcinoma on endoscopic retrograde cholangiopancreatography brushing smears, which is often the only available tissue specimen of the tumor. Apart from hyperdiploidy, it provides additional data on the genetic profile of cholangiocarcinoma, especially regarding structural chromosomal aberrations and clonal diversity. This line of investigation may prove useful in the delineation of oncogenesis and the interpretation of the diverse clinical features of the disease. PMID:23845469

  14. Is Radiosensitivity Associated to Different Types of Blood Groups? (A cytogenetic study)

    PubMed Central

    Elahimanesh, Farideh; Shabestani Monfared, Ali; Khosravifarsani, Meysam; Akhavan Niaki, Haleh; Abedian, Zeinab; Hajian-Tilaki, Karimollah; Borzouisileh, Sajad; Seyfizadeh, Nayer; Amiri, Mehrangiz

    2013-01-01

    Many biological factors affect radiosensitivity. In this study, radiosensitivity among the different blood groups was investigated. Peripheral blood sample of 95 healthy people were divided into two parts. One part was irradiated with 2 Gy Co-60 gamma rays and the second one was considered as control. Then all the samples were studied by cytokinesis-blocked micronucleus assay (CBMN assay). Our study showed that the radiosensitivity index of A+ and O+ groups was significantly higher and lower than other blood groups, respectively. It seems that blood type can be used as a radiosensitivity index for determining the given dose to radiotherapy, although extensive studies are necessary. PMID:24551803

  15. Wolf-Hirschhorn syndrome: A case demonstrated by a cytogenetic study.

    PubMed

    Pokale, Yamini S; Jadhav, Ajinkya M; Kate, Ushang

    2012-01-01

    We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf-Hirschhorn syndrome were found on clinical examination of our patient. PMID:22754235

  16. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 5 2011-10-01 2011-10-01 false Standard: Clinical cytogenetics. 493.1276 Section... Testing Analytic Systems § 493.1276 Standard: Clinical cytogenetics. (a) The laboratory must have policies... study required based on the clinical information provided to the laboratory. (3) An adequate number...

  17. Cancer Cytogenetics: Methodology Revisited

    PubMed Central

    2014-01-01

    The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed. PMID:25368816

  18. Significance of FISH in clinical cytogenetics

    SciTech Connect

    Gopal Rao, V.V.N.; Harris, S.; Roop, H.

    1994-09-01

    Ever since its discovery, FISH technology has become an invaluable adjunct to conventional cytogenetics. FISH has been instrumental in resolving previously unresolved cytogenetic dilemmas. FISH has been used to elucidate complex as well as subtle chromosomal translocations, in detection of microdeletions, to confirm duplications and inversions and to identify marker chromosomes. We report a few selected cases where FISH proved to be invaluable in not only confirming the anomaly, but also in arriving at an accurate diagnosis and appropriate counseling of the patients. These include 3 cases of prenatal and 3 cases of postnatal diagnosis. The results clearly demonstrate the significance of FISH in identifying and interpreting the difficult karyotype in clinical cytogenetics. In addition, FISH has been used to rule out microdeletions in Prader-Willi (16), Angelman (3), Miller-Dieker (7), DiGeorge (4) and Smith-Magenis (1) syndrome patients. Without FISH in the majority of these cases, it would not have been possible to accurately identify the karyotype and interpret the results. Hence, we recommend that FISH be used as a powerful adjunct to conventional cytogenetics in order to arrive at an accurate interpretation of the results but not to replace routine cytogenetic studies.

  19. In vitro cytogenetic studies of organic chemicals found as contaminants in spacecraft cabin atmospheres

    NASA Technical Reports Server (NTRS)

    Torres, J.

    1986-01-01

    Astronauts can be exposed during spaceflight to organic chemical contaminants in the spacecraft cabin atmosphere. Toxic exposures may cause lesions in the cellular DNA which are subsequently expressed as sister-chromatid exchanges (SCE). Analysis of SCE is a sensitive short-term assay technique to detect and quantitate exposures to DNA-damaging (mutagenic) substances. The increase in SCE incidence over baseline (control) levels is generally proportional to the concentration of the mutagen and to the duration of exposure. Dichloromethane (methylene chloride) was chosen for this study since it occurred as an atmospheric contaminant in ten of the first 12 STS flights, and has been reported to have toxic and mutagenic effects in various test systems. Glutaraldehyde was chosen because relatively few data are available on the toxicity or mutagenicity of this common biological fixative, which is carried on STS flights for use in biological experiments. The BHK-21 baby hamster kidney cell line was the in vitro test system used in this study. Neither dichloromethane (10 ppm to 500 ppm) nor glutaraldehyde (1 ppm to 10 ppm) increased SCE levels following 20-hour exposure of BHK-21 cells to the test chemicals.

  20. A cytogenetic and molecular study of a series of 45,X fetuses and their parents.

    PubMed Central

    Cockwell, A; MacKenzie, M; Youings, S; Jacobs, P

    1991-01-01

    The parental origin of the single X chromosome in 10 45,X fetuses was studied using DNA restriction fragment length polymorphisms. In six the single X was maternal in origin, in one it was paternal, and in one the results were consistent with a paternal origin. Therefore the parental origin of the X in 45,X fetuses that survive to the second or third trimester of pregnancy is similar to that of spontaneous abortions and live births with a 45,X constitution. The mothers of two of the fetuses were themselves found to have an abnormal sex chromosome complement, but in neither case did it appear to be related to the chromosome abnormality in the fetus. Images PMID:1675683

  1. Effects of arsenic cell metabolism and cell proliferation: cytogenetic and biochemical studies.

    PubMed Central

    Petres, J; Baron, D; Hagedorn, M

    1977-01-01

    Chromosome analysis of lymphocytes from patients who had been exposed to arsenic showed frequent structural and numerical aberrations, even with an interval of decades since the last exposure. The in vitro addition of sodium arsenate induced the same chromosome changes--even to extreme of chromosome pulverizations--upon lymphocyte cultures from healthy subjects. Radioactive incorporation studies showed that arsenate was able to inhibit dose-dependently the incorporation of radioactively labeled nucleotide in RNA and DNA. Beyond that, arsenic blocked the cells in the S- and G2-phase. A general explanation for the inhibitory effect of inorganic arsenic on cell metabolism is the known strong affinity of arsenic to enzymes, especially to those containing sulfhydryl groups. Images FIGURE 2. a FIGURE 2. b FIGURE 2. c FIGURE 3. a FIGURE 3. b FIGURE 4. PMID:908303

  2. Prognostic impact of cytogenetic aberrations in AL amyloidosis patients after high-dose melphalan: a long-term follow-up study.

    PubMed

    Bochtler, Tilmann; Hegenbart, Ute; Kunz, Christina; Benner, Axel; Kimmich, Christoph; Seckinger, Anja; Hose, Dirk; Goldschmidt, Hartmut; Granzow, Martin; Dreger, Peter; Ho, Anthony D; Jauch, Anna; Schönland, Stefan O

    2016-07-28

    Cytogenetic aberrations detected by interphase fluorescence in situ hybridization (iFISH) of plasma cells are routinely evaluated as prognostic markers in multiple myeloma. This long-term follow-up study aimed to assess the prognosis of systemic light chain amyloidosis (AL) patients treated with high-dose melphalan (HDM) chemotherapy and autologous stem cell transplantation, depending on iFISH results. Therefore, we analyzed a consecutive cohort of 123 AL patients recruited from 2003 to 2014. HDM was safe, with only 1 of 123 patients dying as a result of treatment-related mortality, and effective, with a complete remission (CR) rate of 34%. Translocation t(11;14) as the most prevalent aberration (59%) led to an improved CR rate after high-dose therapy (41.2% vs 20.0%; P = .02), translating into a prolonged hematologic event-free survival (hemEFS; median, 46.1 vs 28.1 months; P = .05) and a trend for better overall survival (median, not reached vs 93.7 months; P = .07). In multivariate analysis, t(11;14) was confirmed as a favorable prognostic factor regarding hemEFS along with lower values for the difference between involved and uninvolved free light chains. Conversely, deletion 13q14, gain of 1q21, and hyperdiploidy had no significant prognostic impact. The high-risk cytogenetic aberrations t(4;14), t(14;16), and del(17p13) conferred an unfavorable prognosis, although statistical significance was reached only for univariate CR analysis in this small group of 9 patients. Thus, t(11;14) positivity in HDM-treated AL patients conferred superior CR rates and hemEFS. In view of the reduced response of t(11;14) to bortezomib, this highlights the impact of therapy on the prognostic role of cytogenetic aberrations. PMID:27257181

  3. Molecular and cytogenetic studies in a case of XX SRY-negative sex reversal in an Arabian horse.

    PubMed

    Ciotola, F; Albarella, S; Pasolini, M P; Auletta, L; Esposito, L; Iannuzzi, L; Peretti, V

    2012-01-01

    An 18-month-old Arabian foal characterized by a stallion-like appearance was submitted for cytogenetic and molecular genetics examinations due to abnormalities of external genitalia and the presence of ovotestis-like structures in the abdominal cavity. By RB-banding the animal showed the normal female equine karyotype (2n = 64,XX). Molecular analysis revealed the absence of the SRY and ZFY genes and the presence of ZFX, a typical female equine condition. The entire RSPO1 coding region was examined to exclude its involvement. Although a SNP was found in exon 3, it was not responsible for an amino acid substitution. PMID:22025175

  4. Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage

    PubMed Central

    Eiben, Bernd; Bartels, Iris; Bähr-Porsch, Susan; Borgmann, Sabine; Gatz, Gudrun; Gellert, Gaby; Goebel, Richard; Hammans, Wilhelm; Hentemann, Martha; Osmers, Rüdiger; Rauskolb, Rüdiger; Hansmann, Ingo

    1990-01-01

    Altogether, 750 cases of spontaneous abortion between the fifth and 25th week of gestation were analyzed cytogenetically by the direct-preparation method using chorionic villi. The majority of cases (68%) were derived from early abortions before the 12th week of gestation. The frequency of abnormal karyotypes was 50.1%; trisomy was predominant (62.1%), followed by triploidy (12.4%), monosomy X (10.5%), tetraploidy (9.2%), and structural chromosome anomalies (4.7%). Among trisomies, chromosomes 16 (21.8%), 22 (17.9%), and 21 (10.0%) were prevalent. The frequency of chromosomally abnormal abortions increased with maternal age but only because of an increase of trisomy. Polyploidy and monosomy X, however, decreased. Mean maternal age was significantly increased for trisomies 16, 21, and 22 and was highest for trisomies 18 and 20. The results obtained are within the range of variability reported earlier from tissue culture–type studies. A consistent feature during our study is the excess of females in chromosomally normal abortions (male:female sex ratio 0.71). According to the methodology applied, maternal cell contamination and undetected 46,XX molar samples cannot have influenced the sex ratio. However, a bias introduced by social status or maternal age cannot be excluded. With the more rapid and convenient direct preparation of chorionic villi, reliable cytogenetic data on causes of spontaneous abortions can be obtained. PMID:2220806

  5. The cytogenetics of mammalian autosomal rearrangements

    SciTech Connect

    Daniel, A.

    1988-01-01

    Combining data from animal and clinical studies with classical cytogenetic observations, the volume provides information on various aspects of mammalian autosomal rearrangements. Topics range from the reproductive consequences to carriers of autosomal rearrangements to the application of structural rearrangements and DNA probes to gene mapping. In addition, the book presents an overview of new perspectives and future directions for research.

  6. Cytogenetic activity of the coumarin glucoside seseloside

    SciTech Connect

    Arshava, E.A.

    1986-05-01

    The cytogenetic effect of the coumarin glucoside seseloside on plant objects was studied. It was established that low concentrations of the preparation (from 1 x 10/sup -5/ to 1 x 10/sup -3/ ..mu..g/ml) inhibit both spontaneous and radiation-induced mutagenesis. The effect of high concentrations (10 and 100 ..mu..g/ml) causes a mutagenic effect.

  7. No cytogenetic effects of quinolone treatment in humans.

    PubMed Central

    Mitelman, F; Kolnig, A M; Strömbeck, B; Norrby, R; Kromann-Andersen, B; Sommer, P; Wadstein, J

    1988-01-01

    Cytogenetic effects of ciprofloxacin (500 to 2,000 mg daily) and ofloxacin (200 mg daily) were studied in lymphocytes from 31 patients treated for 1 to 10 weeks. Blood samples for cytogenetic analysis were taken before the start of treatment from all patients, after 1 week from 25 patients, and after 2, 4, 6, and 10 weeks from six patients. No chromosome-damaging effect could be demonstrated in any treatment group. The mean aberration yields for each cytogenetic parameter studied and the total number of aberrations were all normal at each sampling occasion. PMID:3166361

  8. Plant cytogenetics in genome databases

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cytogenetic maps provide an integrated representation of genetic and cytological information that can be used to enhance genome and chromosome research. As genome analysis technologies become more affordable, the density of markers on cytogenetic maps increases, making these resources more useful a...

  9. Cytogenetic highlights and transitions.

    PubMed

    Spinner, Nancy B

    2016-06-01

    Medical cytogenetics, genetic diagnostics, and medical genetics had their origins in the late 1950's, as evaluation of human chromosomes became possible, and it was recognized that chromosomal abnormalities could cause a variety of clinical phenotypes. Dr. Laird Jackson began his medical and scientific career just as this field was emerging and he was an early adopter and driver of several key trends in the development of these fields, notably in the area of prenatal diagnostics. Laird's greatest impact was in his work to demonstrate the clinical utility of amniocentesis, chorionic villous sampling, and chromosomal microarray analysis for prenatal diagnosis. © 2016 Wiley Periodicals, Inc. PMID:27097074

  10. [Cytogenetics of bone sarcomas].

    PubMed

    Vagner-Capodano, A M; Poitout, D

    There has been much progress in the cytogenesis, and molecular biology of bone tumours such as Ewing sarcoma and osteosarcomas, greatly improving diagnostic possibilities and prognosis. Ewing's sarcoma is an indifferentiated sarcoma with round cells which usually occurs in children or adolescents. Ewing's sarcoma corresponds to 6% of all bone tumours. Histologically Ewing's sarcoma belongs to a group of small round cell tumours including neuroblastoma, embryon and alveolar rhabdomyosarcoma and non-Hodgkin's lymphoma. Differential diagnosis is difficult. Cytogenetic examinations can now differentiate Ewing's sarcoma from other small round cell tumours. There is a specific 11:12 translocation (q24; q12) which can be used as a marker. PMID:8785922

  11. Species of the genus Arthrobrachus Solier, 1849 (Coleoptera: Melyridae)
    distributed to the East of the Andes.

    PubMed

    Estrada, Patricia M

    2016-01-01

    The species of the genus Arthrobrachus Solier, 1849 distributed in Argentina, Bolivia, Paraguay and Uruguay have been revised. The morphological study of specimens and the review of the type material have resulted in a new combination: Arthrobrachus flavomarginatus (Blanchard, 1843) n. comb. (from Astylus Laporte, 1836), and four new synonymies: Arthrobrachus rufitarsis Philippi & Philippi, 1864 = A. obscuripes Pic, 1927 n. syn.; Arthrobrachus flavomarginatus (Blanchard, 1843) = A. xanthurus (Blanchard, 1843) n. syn. = A. boucardi Pic, 1919 n. syn. = A. lajoyei Pic, 1919 n. syn. Three species described by Steinheil (1874), Arthrobrachus depressus, Arthrobrachus testaceolimbatus and Arthrobrachus testaceus are considered as incertae sedis and Arthrobrachus quadrilineatus Steinheil, 1874 is transferred to Astylus Laporte, 1836 as A. steinheili nomen novum. Four new species of Arthrobrachus have been described: A. antonioi n. sp., A. eloisae n. sp., A. solervicensi n. sp. and A. armandoi n. sp. Distributional data and a key to the species are provided. PMID:27394460

  12. Molecular and cytogenetic studies of an X; autosome translocation in a patient with premature ovarian failure and review of the literature

    SciTech Connect

    Powell, C.M.; Wangsa, D.; Nelson, L.M.; White, B.J.

    1994-08-01

    We have identified a patient with premature ovarian failure (POF) and a balanced X;autosome translocation: 46,X,t(X;6)(q13.3 or q21;p12) using high-resolution cytogenetic analysis and FISH. BrdU analysis showed that her normal X was late-replicating and translocated X earlier-replicating which is typical of balanced X;autosome rearrangements. Molecular studies were done to characterize the breakpoint on Xq and to determine the parental origin. PCR probes of tetranucleotide and dinucleotide repeat polymorphisms, and genomic probes were used to study DNA from the patient, her chromosomally normal parents and brother, and somatic cell hybrids containing each translocation chromosome. The translocation is paternally derived and is localized to Xq13.3-proximal Xq21.1, between PGK1 and DXS447 loci, a distance of 0.1 centimorgans. A {open_quotes}critical region{open_quotes} for normal ovarian function has been proposed for Xq13-q26 based on cytogenetic and clinical studies of patients with X;autosome translocations. Few cases have had molecular characterization of the breakpoints to further define the region. While translocations in the region may lead to ovarian dysfunction by disrupting normal meiosis or by a position effect, two recent reports of patients with premature ovarian failure and Xq deletions suggest that there is a gene (POF1) localized to Xq21.3-q27 or within Xq26.1-q27 responsible for POF. We now propose that there may be a second gene for POF (POF2) located at Xq13.3-q21.1. 52 refs., 5 figs., 2 tabs.

  13. Cytokinetic studies reveal etiology of cytogenetic genotoxicity produced by a series of angiotensin II (AII) receptor antagonists may be perturbed DNA synthesis

    SciTech Connect

    Selden, J.R.; Miller, J.E.; Dolbeare, F.; Galloway, S.M.; Nichols, W.W. Lawrence Livermore National Lab., CA )

    1993-01-01

    Six of 13 AII receptor antagonists produced chromosomal aberrations in CHO cells. In addition, these six compounds perturbed cellular kinetics (i.e., reduced mitotic indices and cell yields). It was hypothesized that the mechanism of clastogenesis was not due to a direct genotoxic effect, but may result from disruption of DNA replication. Flow cytokinetic studies, using the BrdUrd-FITC/propidium iodide technique, were performed on all six clastogenic compounds, and a seventh candidate from this group. All seven altered CHO cell kinetics as follows: (1) The amount of BrdUrd per S phase cell was reduced; (2) Cell movement within S phase was inhibited; and (3) Lowest doses perturbing CHO cell kinetics were below minimum concentrations producing aberrations. These data provide evidence that this cytogenetic damage is mediated by a mechanism which disrupts cellular DNA synthesis.

  14. A complex rearrangement associated with sex reversal and the Wolf-Hirschhorn syndrome: a cytogenetic and molecular study.

    PubMed Central

    Coles, K; Mackenzie, M; Crolla, J; Harvey, J; Starr, J; Howard, F; Jacobs, P

    1992-01-01

    We report a male infant referred with multiple congenital abnormalities consistent with the Wolf-Hirschhorn syndrome. Cytogenetic analysis showed a chromosome complement of 46,XX with a deletion of 4p15.2----4pter and its replacement by material of unknown origin. The patient was positive for a number of Yp probes including SRY, the testis determining factor, and in situ hybridisation localised the Yp material to the tip of the short arm of one X chromosome. Using pDP230, a probe for the pseudoautosomal region, and M27 beta, which recognises a locus in proximal Xp, the material translocated on to 4p was identified as originating from the short arm of the paternal X chromosome. The most reasonable explanation for this complex rearrangement is two separate exchange events involving both chromatids of Xp during paternal meiosis. An aberrant X-Y interchange gave rise to the sex reversal and an X;4 translocation resulted in additional, apparently active Xp material and a deletion of 4p which produced the Wolf-Hirschhorn phenotype. Images PMID:1619635

  15. Nested polymerase chain reaction study of 53 cases with Turner`s syndrome: Is cytogenetically undetected Y mosaicism common?

    SciTech Connect

    Binder, G.; Koch, A.; Ranke, M.B.

    1995-12-01

    Turner`s syndrome patients with Y mosaicism face a high risk of developing gonadoblastoma. Cytogenetic analysis can fail to detect rare cells bearing a normal or structurally abnormal Y chromosome (low level Y mosaicism). We screened 53 individuals with Turner`s syndrome for presence of sex-determining region Y (SRY), the testis-specific protein, Y encoded, gene, and the Y centromeric DYZ3 repeat using nested polymerase chain reaction (PCR). Thirty girls (57%) had the 45,X karyotype, determined through standard analysis of blood lymphocytes. The remaining 23 girls (43%) were mosaics and/or had structural abnormalities in 1 X-chromosome. Genomic DNA from blood leukocytes was amplified using 2 rounds of PCR. This method was sensitive enough to detect 0.0001% male DNA on a female background. None of 53 Turner`s syndrome cases was positive for Y-specific loci after the first round of PCR. After the second round, 2 of 53 Turner`s syndrome cases were positive for SRY mapping to the distal short arm of chromosome Y. In 1 SRY-positive subject, the karyotype was 45,X, and in the other, it was 46,Xi(Xq). None of 53 Turner`s syndrome individuals, including the 2 SRY-positive subjects, were positive for the testis-specific protein, Y encoded, gene on the proximal short arm of chromosome Y or the centromeric DYZ3 repeat. These data exclude low level Y mosaicism in almost all Turner`s syndrome cases tested. 35 refs., 3 figs., 1 tab.

  16. Studies on the molecular pathogenesis of extraskeletal myxoid chondrosarcoma-cytogenetic, molecular genetic, and cDNA microarray analyses.

    PubMed

    Sjögren, Helene; Meis-Kindblom, Jeanne M; Orndal, Charlotte; Bergh, Peter; Ptaszynski, Konrad; Aman, Pierre; Kindblom, Lars-Gunnar; Stenman, Göran

    2003-03-01

    Extraskeletal myxoid chondrosarcomas (EMCs) are characterized by recurrent chromosome translocations resulting in fusions of the nuclear receptor TEC to various NH(2)-terminal partners. Here we describe the phenotypic, cytogenetic, and molecular genetic characteristics of a series of 10 EMCs. Using spectral karyotyping and fluorescence in situ hybridization, clonal chromosome abnormalities were detected in all but one tumor. A t(9;22)(q22;q12) translocation was found in three cases; a del(22)(q12-13)in one case; and variant translocations, including t(9;17)(q22;q11-12), t(7;9;17)(q32;q22;q11), and t(9;15)(q22;q21), were detected in one case each. Recurrent, secondary abnormalities, including trisomy 1q, 7, 8, 12, and 19, were found in seven tumors. All tumors contained translocation-generated or cryptic gene fusions, including EWS-TEC (five cases, of which one was a novel fusion), TAF2N-TEC (four cases), and TCF12-TEC (one case). cDNA microarray analysis of the gene expression patterns of two EMCs and a myxoid liposarcoma reference tumor revealed a remarkably distinct and uniform expression profile in both EMCs despite the fact that they had different histologies and expressed different fusion transcripts. The most differentially expressed gene in both tumors was CHI3L1, which encodes a secreted glycoprotein (YKL-40) previously implicated in various pathological conditions of extracellular matrix degradation as well as in cancer. Our findings suggests that EMC exhibits a tumor-specific gene expression profile, including overexpression of several cancer-related genes as well as genes implicated in chondrogenesis and neural-neuroendocrine differentiation, thus distinguishing it from other soft tissue sarcomas. PMID:12598313

  17. Oncocytic papillary renal cell carcinoma: a clinicopathological study emphasizing distinct morphology, extended immunohistochemical profile and cytogenetic features.

    PubMed

    Xia, Qiu-Yuan; Rao, Qiu; Shen, Qin; Shi, Shan-Shan; Li, Li; Liu, Biao; Zhang, Jin; Wang, Yan-Fen; Shi, Qun-Li; Wang, Jian-Dong; Ma, Heng-Hui; Lu, Zhen-Feng; Yu, Bo; Zhang, Ru-Song; Zhou, Xiao-Jun

    2013-01-01

    Papillary renal cell carcinoma (PRCC) is traditionally classified into type 1 and type 2. Recently, an oncocytic variant of PRCC has been described. We report a series of 6 oncocytic renal papillary tumors (OPRCC) which tended to occur in older patients (mean, 56.8 years) with a male preference (male-to-female ratio is 5:1). All 6 patients are alive with no evidence of disease after initial resection, showing an indolent clinical behavior. Histologically, tumors exhibited predominant papillary structure with delicate fibrovascular cores. Papillae were lined by single layers of cells with large, deeply eosinophilic and finely granular cytoplasms and round regular nucleus. The phagocytosis of tumor cells was frequently and evidently seen in our cases that hemosiderin-laden tumor cells and foamy tumor cells were noticed in five and four cases respectively. All tumors were immunoreactive for racemase, vimentin, CD10, and MET and negative for CD117. While E-cadherin, EMA, and cytokeratin 7 exhibited variable immunopositivity. FISH analysis was performed in five of six cases and found heterogeneous results. Trisomy of chromosomes 7 was found in three cases and trisomy of chromosomes 17 in two cases. Loss of chromosome Y was noted in one of four tumors in male patients. MET gene status was also investigated by direct sequencing in all 6 cases and found no distinct mutation in any case. These results suggest that OPRCC shows distinct morphology, indolent clinical behavior, and similar immunohistochemical and cytogenetic features with PRCC, seems to be a variant in the PRCC group. Whether the strong expression of MET indicates a potential therapeutic target is still unknown and requires further investigation in clinical trials. PMID:23826421

  18. Cytogenetic Findings in Mentally Retarded Iranian Patients

    PubMed Central

    Nasiri, F; Mahjoubi, F; Manouchehry, F; Razazian, F; Mortezapour, F; Rahnama, M

    2012-01-01

    We conducted a cytogenetic study on 865 individuals with idiopathic mental retardation (MR) who were admitted to the Cytogenetics Department of the Iran Blood Transfusion Organisation (IBTO) Research Centre, Tehran, Iran; these were performed on blood samples using conventional staining methods. Chromosome anomalies were identified in 205 of the patients (23.6%). The majority were Down’s syndrome cases (n = 138). In 33 males, a positive fragile X anomaly was found. The remainder (n = 34) had other chromosomal abnormalities including structural chromosome aberrations (n = 23), marker chromosomes with an unknown origin (n = 3), sex chromosome aneuploidy (n = 6) and trisomy 18 (n = 2). The contribution of chromosome aberrations to the cause of MR in this group of patients is discussed. PMID:24052729

  19. A simple non-invasive protocol to establish primary cell lines from tail and toe explants for cytogenetic studies in Australian dragon lizards (Squamata: Agamidae)

    PubMed Central

    O’Meally, Denis; Quinn, Alexander E.; Sarre, Stephen D.; Georges, Arthur; Marshall Graves, Jennifer A.

    2009-01-01

    Primary cell lines were established from cultures of tail and toe clips of five species of Australian dragon lizards: Tympanocryptis pinguicolla, Tympanocryptis sp., Ctenophorus fordi, Amphibolurus norrisi and Pogona vitticeps. The start of exponential cell growth ranged from 1 to 5 weeks. Cultures from all specimens had fibroblastic morphology. Cell lines were propagated continuously up to ten passages, cryopreserved and recovered successfully. We found no reduction in cell viability after short term (<6 months) storage at −80 °C. Mitotic metaphase chromosomes were harvested from these cell lines and used in differential staining, banding and fluorescent in situ hybridisation. Cell lines maintained normal diploidy in all species. This study reports a simple non-invasive method for establishing primary cell lines from Australian dragon lizards without sacrifice. The method is likely to be applicable to a range of species. Such cell lines provide a virtually unlimited source of material for cytogenetic, evolutionary and genomic studies. PMID:19199067

  20. Cytogenetic abnormalities additional to t(11;14) correlate with clinical features in leukaemic presentation of mantle cell lymphoma, and may influence prognosis: a study of 60 cases by FISH.

    PubMed

    Parry-Jones, N; Matutes, E; Morilla, R; Brito-Babapulle, V; Wotherspoon, A; Swansbury, G J; Catovsky, D

    2007-04-01

    Mantle cell lymphoma (MCL), characterised by t(11;14)(q13;q32), has a poor prognosis. Many cases have additional cytogenetic abnormalities, and often have a complex karyotype. Fluorescence in situ hybridisation (FISH) was used to study 60 cases with leukaemic presentation of MCL, to determine the frequency, clinical correlations and prognostic impact of a panel of molecular cytogenetic abnormalities: 17p13 (TP53 locus), 13q14, 12 p11.1-q11 (centromere), 6q21 and 11q23. CD38 expression, of prognostic value in chronic lymphocytic leukaemia (CLL), was also studied, and correlations with clinical and cytogenetic abnormalities sought. Eighty per cent of cases had at least one abnormality in addition to t(11;14). Deletions at 17p13 (TP53) and 13q14 were most frequent and involved the majority of the leukaemic clone. Cases with TP53 deletion were more likely to have splenomegaly and marked leucocytosis (>30 x 10(9)/l), and less likely to have lymphadenopathy than those without deletion. Deletions at 11q23 and 6q21 were associated with extranodal disease. 13q14 and 11q23 deletions showed a trend towards worse prognosis by univariate analysis. In multivariate analysis, deletions at 13q14 and 6q21 were independent predictors of poor outcome. Deletion at 17p13 did not show prognostic impact in this series. CD38, positive in two-thirds of cases, was associated with male gender and nodal disease but not with any cytogenetic abnormality, or with survival. PMID:17391491

  1. Validation of cytogenetic risk groups according to International Prognostic Scoring Systems by peripheral blood CD34+FISH: results from a German diagnostic study in comparison with an international control group

    PubMed Central

    Braulke, Friederike; Platzbecker, Uwe; Müller-Thomas, Catharina; Götze, Katharina; Germing, Ulrich; Brümmendorf, Tim H.; Nolte, Florian; Hofmann, Wolf-Karsten; Giagounidis, Aristoteles A. N.; Lübbert, Michael; Greenberg, Peter L.; Bennett, John M.; Solé, Francesc; Mallo, Mar; Slovak, Marilyn L.; Ohyashiki, Kazuma; Le Beau, Michelle M.; Tüchler, Heinz; Pfeilstöcker, Michael; Nösslinger, Thomas; Hildebrandt, Barbara; Shirneshan, Katayoon; Aul, Carlo; Stauder, Reinhard; Sperr, Wolfgang R.; Valent, Peter; Fonatsch, Christa; Trümper, Lorenz; Haase, Detlef; Schanz, Julie

    2015-01-01

    International Prognostic Scoring Systems are used to determine the individual risk profile of myelodysplastic syndrome patients. For the assessment of International Prognostic Scoring Systems, an adequate chromosome banding analysis of the bone marrow is essential. Cytogenetic information is not available for a substantial number of patients (5%–20%) with dry marrow or an insufficient number of metaphase cells. For these patients, a valid risk classification is impossible. In the study presented here, the International Prognostic Scoring Systems were validated based on fluorescence in situ hybridization analyses using extended probe panels applied to cluster of differentiation 34 positive (CD34+) peripheral blood cells of 328 MDS patients of our prospective multicenter German diagnostic study and compared to chromosome banding results of 2902 previously published patients with myelodysplastic syndromes. For cytogenetic risk classification by fluorescence in situ hybridization analyses of CD34+ peripheral blood cells, the groups differed significantly for overall and leukemia-free survival by uni- and multivariate analyses without discrepancies between treated and untreated patients. Including cytogenetic data of fluorescence in situ hybridization analyses of peripheral CD34+ blood cells (instead of bone marrow banding analysis) into the complete International Prognostic Scoring System assessment, the prognostic risk groups separated significantly for overall and leukemia-free survival. Our data show that a reliable stratification to the risk groups of the International Prognostic Scoring Systems is possible from peripheral blood in patients with missing chromosome banding analysis by using a comprehensive probe panel (clinicaltrials.gov identifier:01355913). PMID:25344522

  2. A retrospective review of cytogenetic studies on methyl isocyanate with special reference to the Bhopal gas tragedy: is the next generation also at risk?

    PubMed

    Samarth, Ravindra M; Gandhi, Puneet; Maudar, Kewal K

    2013-06-01

    The world's worst industrial disaster, at Union Carbide, Bhopal, India, took place on 2-3 December 1984, leading to the leakage of poisonous methyl-isocyanate into the environment, causing thousands of deaths, pregnancy loss and for some, incapacitation for life. More than a quarter of a century later, the Indian Council of Medical Research undertook to redefine the abysmal consequences of the toxic gas exposure on the exposed population. This invigorated the interest of scientific community in the evaluation of the long-term effects, with reference to cytogenetic parameters. The thrust area was identified in terms of genetic disorders, low birth weight, developmental/growth disorders and congenital malformations. Also the impact on epigenetic factors, which may have contributed to variations in the functional expression of genes, was not negated, stimulating intense scientific research on in utero exposure and the progeny of the exposed population. To accomplish this mammoth task, molecular cytogenetic investigations must be undertaken in conjunction with conventional cytogenetics, using techniques such as FISH, Immuno-FISH, SKY and SNP analysis, to build up a cytogenetic database of the surviving population. PMID:23857370

  3. Role of autologous hematopoietic stem cell transplantation according to the NPM1/FLT3-ITD molecular status for cytogenetically normal AML patients: a GOELAMS study.

    PubMed

    Guièze, Romain; Cornillet-Lefebvre, Pascale; Lioure, Bruno; Blanchet, Odile; Pigneux, Arnaud; Recher, Christian; Bonmati, Caroline; Fegueux, Nathalie; Bulabois, Claude-Eric; Bouscary, Didier; Vey, Norbert; Delain, Martine; Turlure, Pascal; Himberlin, Chantal; Harousseau, Jean-Luc; Dreyfus, Francois; Béné, Marie C; Ifrah, Norbert; Chevallier, Patrice

    2012-12-01

    The choice of postremission therapy for acute myeloid leukemia (AML) patients is now based on the blasts' cytogenetic and molecular profile. However, the potential benefit of autologous hematopoietic stem cell transplantation (auto-HSCT) according to the NPM1/FLT3-ITD status has been poorly studied in AML patients with a normal karyotype (NK). Therefore, we evaluated the NPM1/FLT3-ITD molecular status in 135 NK-AML patients treated by allogeneic HSCT (allo-HSCT), auto-HSCT, or chemotherapy as consolidation therapy within the GOELAMS LAM-2001 trial. In univariate analyzes, 4-year leukemia-free survival (LFS) and overall survival (OS) were significantly higher for NPM1+/FLT3-ITD- patients compared with patients presenting another molecular profile (61 vs. 43% and 72 vs. 48%, P = 0.02 and P = 0.01, respectively). In the NPM1+/FLT3-ITD- subgroup, there was no benefit for allo-HSCT or auto-HSCT vs. chemotherapy (4-year LFS: 71, 56, and 60%; 4-year OS: 73, 71, and 60%, respectively; P = NS). For patients with other NPM1/FLT3-ITD molecular profiles, allo-HSCT was found to be the best consolidation therapy, whereas auto-HSCT was associated with a better outcome when compared with chemotherapy (allo-HSCT-, auto-HSCT-, and chemotherapy-related 4-year LFS: 68, 44, and 36%, P = 0.004; 4-year OS: 68, 52, and 29%, respectively, P = 0.02). Our study indicates that allo-HSCT and auto-HSCT provide similar outcomes compared with chemotherapy as consolidation for NPM1+/FLT3-ITD- NK-AML patients. For NK-AML patients with an adverse molecular profile, auto-HSCT could represent an alternative therapeutic approach when no human leukocyte antigen-matched allogeneic donor is available. PMID:22911473

  4. Prognostic Impact of Cytogenetic Abnormalities in Multiple Myeloma

    PubMed Central

    Jian, Yuan; Chen, Xiaolei; Zhou, Huixing; Zhu, Wanqiu; Liu, Nian; Geng, Chuanying; Chen, Wenming

    2016-01-01

    Abstract The identification of specific cytogenetic abnormalities by interphase fluorescence in situ hybridization (i-FISH) has become a routine procedure for prognostic stratification of multiple myeloma (MM) patients. In this study, the prognostic significance of cytogenetic abnormalities detected by interphase fluorescence in situ hybridization (iFISH) in 229 newly diagnosed multiple myeloma patients was retrospectively analyzed. Results showed that del (17p), t(4;14), and 1q21 gain were adverse predictors of progression-free survival (PFS). Patients who carried these cytogenetic abnormalities were more likely to have more adverse biological parameters and lower response rate. Multivariate analysis showed that del (17p), t(4;14), and 1q21 gain were statistically independent predictors of PFS, whereas del (17p) was also adverse predictor of overall survival. Multiple coexisting cytogenetic abnormalities also had a negative correlation with PFS. Bortezomib-based therapy could improve the rate and depth of response in patients with t(4;14) translocation and 1q21 gain. Autologous stem cell transplantation could improve, but not overcome the adverse prognostic effect of high-risk cytogenetic abnormalities. These results demonstrate that MM patients with iFISH abnormalities, especially del (17p), are more likely to have a poor prognosis. PMID:27175647

  5. Updates on the cytogenetics and molecular cytogenetics of benign and intermediate soft tissue tumors

    PubMed Central

    NISHIO, JUN

    2013-01-01

    Soft tissue tumors are classified according to their histological resemblance to normal adult tissues and can be grouped into the following categories based on metastatic potential: benign, intermediate (locally aggressive), intermediate (rarely metastasizing) and malignant. Over the past two decades, considerable progress has been made in our understanding of the genetic background of soft tissue tumors. Traditional laboratory techniques, such as cytogenetic analysis and fluorescence in situ hybridization (FISH), can be used for diagnostic purposes in soft tissue pathology practice. Moreover, cytogenetic and molecular studies are often necessary for prognostics and follow-up of soft tissue sarcoma patients. This review provides updated information on the applicability of laboratory genetic testing in the diagnosis of benign and intermediate soft tissue tumors. These tumors include nodular fasciitis, chondroid lipoma, collagenous fibroma (desmoplastic fibroblastoma), giant cell tumor of tendon sheath (GCTTS)/pigmented villonodular synovitis (PVNS), angiofibroma of soft tissue, myxoinflammatory fibroblastic sarcoma (MIFS) and ossifying fibromyxoid tumor (OFMT). PMID:23255885

  6. The evolution of a cytogenetics education program.

    PubMed Central

    Becan-McBride, K; Cork, A

    1993-01-01

    An educational program in clinical cytogenetics was initiated in 1983 at the University of Texas Health Science Center at Houston, through the Medical Technology Program in the School of Allied Health Sciences. Through the years the program has evolved into a more efficient curriculum, with the possibility of becoming a part of a master's degree program in allied health sciences. It is hoped that a description of the program will be of help to other educational institutions that may be contemplating the establishment of a similar course of study. PMID:8434593

  7. Cytogenetic profile of Indian patients with de novo myelodysplastic syndromes

    PubMed Central

    Chaubey, Rekha; Sazawal, Sudha; Dada, Rima; Mahapatra, Manoranjan; Saxena, Renu

    2011-01-01

    Background & objectives: Myelodysplastic syndrome (MDS) is a clonal haematopoietic stem cell disorder characterized by ineffective haematopoiesis and leukaemia progression. Cytogenetic analysis has proven to be a mandatory part of the diagnosis of MDS as well as a major indicator for predicting clinical course and outcome. Studies on cytogenetics of MDS are reported mostly from the West and only a few are available from Asian countries. We report herein cytogenetic studies on 40 Indian patients with primary MDS to find out the occurrence and type of chromosome abnormalities and recurring defects. Methods: Cytogenetic analysis was done using GTG banding and karyotyped according to the International System for Human Cytogenetic Nomenclature (ISCN). Results: Of the 40 patients, 19 patients (47.5%) showed clonal karyotypic abnormalities with distribution as follows: 3 of 15 (20%) of refractory anaemia (RA), 4 of 7 (57%) of refractory anaemia with excess blasts-1 (RAEB-1), 4 of 6 (67%) of refractory anaemia with excess blasts 2 (RAEB-2), 2 of 3 (67%) of refractory anaemia with ring sideroblasts (RARS), 2 of 4 (50%) of refractory cytopenia with multilineage dysplasia (RCMD), none (0%) RCMD-ringed sideroblasts (RCMD-RS) and 4 patients with 5q syndrome. The frequent abnormalities observed in our study were -7, 5q-and trisomy 8. Interpretation & conclusions: Two rare chromosomal abnormalities (6q-, 3q-) were found with unknown prognostic significance. Hence, cytogenetic analysis may be incorporated in the routine diagnosis of MDS since there are racial differences in clinical pictures and the molecular events. PMID:22089606

  8. Cytogenetic studies and karyotype nomenclature of three wild canid species: maned wolf (Chrysocyon brachyurus), bat-eared fox (Otocyon megalotis) and fennec fox (Fennecus zerda).

    PubMed

    Pieńkowska-Schelling, A; Schelling, C; Zawada, M; Yang, F; Bugno, M; Ferguson-Smith, M

    2008-01-01

    We have analysed the chromosomes of three wild and endangered canid species: the maned wolf (Chrysocyon brachyurus), the bat-eared fox (Otocyon megalotis) and the fennec fox (Fennecuszerda) using classical and molecular cytogenetic methods. For the first time detailed and encompassing descriptions of the chromosomes are presented including the chromosomal assignment of nucleolar organizer regions and the 5S rRNA gene cluster. We propose a karyotype nomenclature with ideograms including more than 300 bands per haploid set for each of these three species which will form the basis for further research. In addition, we propose four basic different patterns of karyotype organization in the family Canidae. A comparison of these patterns with the most recent molecular phylogeny of Canidae revealed that the karyotype evolution of a species is not always strongly connected with its phylogenetic position. Our findings underline the need and justification for basic cytogenetic work in rare and exotic species. PMID:18544923

  9. Summary update of the Brookhaven tritium toxicity program with emphasis on recent cytogenetic and lifetime-shortening studies

    SciTech Connect

    Carsten, A.L.; Benz, R.D.; Hughes, W.P.; Ichimasa, Yusuke; Ikushima, Takaji; Tezuka, Hideo

    1988-01-01

    A number of years ago a multiparameter program to evaluate the toxicity of tritiated water (HTO) was undertaken in the Medical Department at Brookhaven National Laboratory. The results of most of these studies have been published and will receive brief attention. Emphasis will be placed on the unpublished studies involving the induction of sister chromatid exchanges (SCE's) in bone marrow of mice, new biochemical information, and preliminary results on lifetime-shortening and carcinogenesis. In brief, male Hale-Stoner Brookhaven (HSB) mice maintained on HTO concentrations ranging from 3.0 to 30.0 ..mu..Ci/ml exhibited essentially the same number of SCE's per cell throughout their lifetime. Control mice showed a decrease in number of SCE's with age. The lack of a dose-response effect and the constant level of SCE's in HTO mice as compared to controls will be discussed. In the carcinogenesis study C57BL/6J male mice received various x-ray or HTO regimens. Mortality data from these and other studies in which CBA/Ca/BNL mice received single x-ray exposures or equivalent integrated dose exposures by single HTO injections will be discussed. 25 refs., 4 figs.

  10. Cytogenetic Prognostication Within Medulloblastoma Subgroups

    PubMed Central

    Shih, David J.H.; Northcott, Paul A.; Remke, Marc; Korshunov, Andrey; Ramaswamy, Vijay; Kool, Marcel; Luu, Betty; Yao, Yuan; Wang, Xin; Dubuc, Adrian M.; Garzia, Livia; Peacock, John; Mack, Stephen C.; Wu, Xiaochong; Rolider, Adi; Morrissy, A. Sorana; Cavalli, Florence M.G.; Jones, David T.W.; Zitterbart, Karel; Faria, Claudia C.; Schüller, Ulrich; Kren, Leos; Kumabe, Toshihiro; Tominaga, Teiji; Shin Ra, Young; Garami, Miklós; Hauser, Peter; Chan, Jennifer A.; Robinson, Shenandoah; Bognár, László; Klekner, Almos; Saad, Ali G.; Liau, Linda M.; Albrecht, Steffen; Fontebasso, Adam; Cinalli, Giuseppe; De Antonellis, Pasqualino; Zollo, Massimo; Cooper, Michael K.; Thompson, Reid C.; Bailey, Simon; Lindsey, Janet C.; Di Rocco, Concezio; Massimi, Luca; Michiels, Erna M.C.; Scherer, Stephen W.; Phillips, Joanna J.; Gupta, Nalin; Fan, Xing; Muraszko, Karin M.; Vibhakar, Rajeev; Eberhart, Charles G.; Fouladi, Maryam; Lach, Boleslaw; Jung, Shin; Wechsler-Reya, Robert J.; Fèvre-Montange, Michelle; Jouvet, Anne; Jabado, Nada; Pollack, Ian F.; Weiss, William A.; Lee, Ji-Yeoun; Cho, Byung-Kyu; Kim, Seung-Ki; Wang, Kyu-Chang; Leonard, Jeffrey R.; Rubin, Joshua B.; de Torres, Carmen; Lavarino, Cinzia; Mora, Jaume; Cho, Yoon-Jae; Tabori, Uri; Olson, James M.; Gajjar, Amar; Packer, Roger J.; Rutkowski, Stefan; Pomeroy, Scott L.; French, Pim J.; Kloosterhof, Nanne K.; Kros, Johan M.; Van Meir, Erwin G.; Clifford, Steven C.; Bourdeaut, Franck; Delattre, Olivier; Doz, François F.; Hawkins, Cynthia E.; Malkin, David; Grajkowska, Wieslawa A.; Perek-Polnik, Marta; Bouffet, Eric; Rutka, James T.; Pfister, Stefan M.; Taylor, Michael D.

    2014-01-01

    Purpose Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, and histologic variant. Stark prognostic and genetic differences among the four subgroups suggest that subgroup-specific molecular biomarkers could improve patient prognostication. Patients and Methods Molecular biomarkers were identified from a discovery set of 673 medulloblastomas from 43 cities around the world. Combined risk stratification models were designed based on clinical and cytogenetic biomarkers identified by multivariable Cox proportional hazards analyses. Identified biomarkers were tested using fluorescent in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray (n = 453), with subsequent validation of the risk stratification models. Results Subgroup information improves the predictive accuracy of a multivariable survival model compared with clinical biomarkers alone. Most previously published cytogenetic biomarkers are only prognostic within a single medulloblastoma subgroup. Profiling six FISH biomarkers (GLI2, MYC, chromosome 11 [chr11], chr14, 17p, and 17q) on formalin-fixed paraffin-embedded tissues, we can reliably and reproducibly identify very low-risk and very high-risk patients within SHH, Group 3, and Group 4 medulloblastomas. Conclusion Combining subgroup and cytogenetic biomarkers with established clinical biomarkers substantially improves patient prognostication, even in the context of heterogeneous clinical therapies. The prognostic significance of most molecular biomarkers is restricted to a specific subgroup. We have identified a small panel of cytogenetic biomarkers that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials. PMID

  11. Cytogenetic, cytotoxic and GC-MS studies on concrete and absolute oils from Taif rose, Saudi Arabia.

    PubMed

    Hagag, Heba A; Bazaid, Salih A; Abdel-Hameed, El-Sayed S; Salman, Mahmood

    2014-12-01

    Taif rose (Rosa damascena trigintipetala Dieck) is a sort of damask rose, which is considered as one of the most important economic products of Taif. In this study, the authors investigated the possible cytotoxic, genotoxic, antimutagenic and anticancer effect of concrete and absolute rose oils. The results showed that both concrete and absolute rose oils were cytotoxically and genotoxically safe at a dose of 10 μg/ml when tested on cultures of normal human blood lymphocytes. Also, the results showed significant antimutagenic activity at p < 0.001 for absolute rose oil at the same dose level when tested on cultures of normal human blood lymphocytes supplemented with 300 ng/ml mitomycin C (MMC). On the other hand, concrete and absolute oils exerted a cytotoxic activity against two kinds of human cancer cell lines: HepG2 and MCF7. Concrete oil showed cytotoxic activity against HepG2 and MCF7 with a half maximal inhibitory concentration (IC50) of 16.28 and 18.09 μg/ml, respectively, whereas absolute rose oil showed its cytotoxic activity against HepG2 and MCF7 with an IC50 of 24.94 and 19.69, respectively. From this study, it is concluded that concrete and absolute rose oils are cytotoxically and genotoxically safe at a dose of 10 μg/ml when tested on cultures of normal human blood lymphocytes. In addition, absolute oil has an antimutagenic activity at the same dose. Further investigations are needed to study the activity of higher doses of both oils in vitro and in vivo in experimental animals in order to evaluate the capability of using these oils as therapeutic for treatment of some kinds of cancers. PMID:24101441

  12. Effects of Lichenic Extracts (Hypogymnia physodes, Ramalina polymorpha and Usnea florida) on Human Blood Cells: Cytogenetic and Biochemical Study

    PubMed Central

    Türkez, Hasan; Aydın, Elanur; Aslan, Ali

    2012-01-01

    Several lichen species have been used for medicinal purposes throughout the ages, and they were reported to be effective in the treatment of different disorders including tuberculosis, hemorrhoids, ulcer, dysentery and cancer. It is revealed that they may be easily accessible sources of natural drugs that could be used as a possible food supplement or in pharmaceutical industry after their safety evaluations. However, so far, the nature and/or biological roles of plenty of lichenes have not been elucidated exactly. The aim of this study was to investigate the genetic and oxidative effects of water extracts of three different lichen species; Hypogymnia physodes, Ramalina polymorpha and Usnea florida in cultured human blood cells (n = 5) for the first time. All lichen species were collected from the Erzurum and Artvin provinces (in Turkey) during August 2010. The lichen extracts were added into culture tubes at various concentrations (0 to 2000 mg/L). Chromosome aberrations (CA) and micronucleus (MN) tests were used for genotoxic influences estimation. In addition, biochemical parameters (total antioxidant capacity (TAC) and total oxidative stress (TOS)) were examined to determine oxidative effects. In our in-vitro test systems, it was observed that all tested lichen extracts had no mutagenic effects on human lymphocytes. Furthermore, these extracts exhibited antioxidant properties due to the type of lichen species added to the cultures. In conclusion, these lichens can be a new resource of therapeutics as recognized in this study with their non-mutagenic and antioxidant features. PMID:24250516

  13. Interphase cytogenetics of workers exposed to benzene

    SciTech Connect

    Zhang, L.; Wang, Yunxia; Venkatesh, P.

    1996-12-01

    Fluorescence in situ hybridization (FISH) is a powerful new technique that allows numerical chromosome aberrations (aneuploidy) to be detected in interphase cells. In previous studies, FISH has been used to demonstrate that the benzene metabolites hydroquinone and 1,2,4-benzenetriol induce aneuploidy of chromosomes 7 and 9 in cultures of human cells. In the present study, we used an interphase FISH procedure to perform cytogenetic analyses on the blood cells of 43 workers exposed to benzene (median=31 ppm, 8-hr time-weighted average) and 44 matched controls from Shanghai, China. High benzene exposure (>31 ppm, n=22) increased the hyperdiploid frequency of chromosome 9 (p<0.01), but lower exposure (<31 ppm, n=21) did not. Trisomy 9 was the major form of benzene-induced hyperdiploidy. The level of hyperdiploidy in exposed workers correlated with their urinary phenol level (r= 0.58, p < 0.0001), a measure of internal benzene close. A significant correlation was also found between hyperdiploicly and decreased absolute lymphocyte count, an indicator of benzene hematotoxicity, in the exposed group (r=-0.44, p=0.003) but not in controls (r=-0.09, P=0.58). These results show that high benzene exposure induces aneuploidy of chromosome 9 in nondiseased individuals, with trisomy being the most prevalent form. They further highlight the usefulness of interphase cytogenetics and FISH for the rapid and sensitive detection of aneuploidy in exposed human populations. 35 refs., 3 figs., 2 tabs.

  14. Review of the Application of Modern Cytogenetic Methods (FISH/GISH) to the Study of Reticulation (Polyploidy/Hybridisation)

    PubMed Central

    Chester, Michael; Leitch, Andrew R.; Soltis, Pamela S.; Soltis, Douglas E.

    2010-01-01

    The convergence of distinct lineages upon interspecific hybridisation, including when accompanied by increases in ploidy (allopolyploidy), is a driving force in the origin of many plant species. In plant breeding too, both interspecific hybridisation and allopolyploidy are important because they facilitate introgression of alien DNA into breeding lines enabling the introduction of novel characters. Here we review how fluorescence in situ hybridisation (FISH) and genomic in situ hybridisation (GISH) have been applied to: 1) studies of interspecific hybridisation and polyploidy in nature, 2) analyses of phylogenetic relationships between species, 3) genetic mapping and 4) analysis of plant breeding materials. We also review how FISH is poised to take advantage of next-generation sequencing (NGS) technologies, helping the rapid characterisation of the repetitive fractions of a genome in natural populations and agricultural plants. PMID:24710040

  15. Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation.

    PubMed

    Mohandas, T; Geller, R L; Yen, P H; Rosendorff, J; Bernstein, R; Yoshida, A; Shapiro, L J

    1987-07-01

    A pericentric inversion of a human X chromosome and a recombinant X chromosome [rec(X)] derived from crossing-over within the inversion was identified in a family. The rec(X) had a duplication of the segment Xq26.3----Xqter and a deletion of Xp22.3----Xpter and was interpreted to be Xqter----Xq26.3::Xp22.3----Xqter. To characterize the rec(X) chromosome, dosage blots were done on genomic DNA from carriers of this rearranged X chromosome using a number of X chromosome probes. Results showed that anonymous sequences from the distal end of the long arm to which probes 4D8, Hx120A, DX13, and St14 bind as well as the locus for glucose-6-phosphate dehydrogenase (G6PD) were duplicated on the rec(X). Mouse-human cell hybrids were constructed that retained the rec(X) in the active or inactive state. Analyses of these hybrid clones for markers from the distal short arm of the X chromosome showed that the rec(X) retained the loci for steroid sulfatase (STS) and the cell surface antigen 12E7 (MIC2); but not the pseudoautosomal sequence 113D. These molecular studies confirm that the rec(X) is a duplication-deficiency chromosome as expected. In the inactive state in cell hybrids, STS and MIC2 (which usually escape X chromosome inactivation) were expressed from the rec(X), whereas G6PD was not. Therefore, in the rec(X) X chromosome inactivation has spread through STS and MIC2 leaving these loci unaffected and has inactivated G6PD in the absence of an inactivation center in the q26.3----qter region of the human X chromosome. The mechanism of spreading of inactivation appears to operate in a sequence-specific fashion. Alternatively, STS and MIC2 may have undergone inactivation initially but could not be maintained in an inactive state. PMID:3474636

  16. Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation.

    PubMed Central

    Mohandas, T; Geller, R L; Yen, P H; Rosendorff, J; Bernstein, R; Yoshida, A; Shapiro, L J

    1987-01-01

    A pericentric inversion of a human X chromosome and a recombinant X chromosome [rec(X)] derived from crossing-over within the inversion was identified in a family. The rec(X) had a duplication of the segment Xq26.3----Xqter and a deletion of Xp22.3----Xpter and was interpreted to be Xqter----Xq26.3::Xp22.3----Xqter. To characterize the rec(X) chromosome, dosage blots were done on genomic DNA from carriers of this rearranged X chromosome using a number of X chromosome probes. Results showed that anonymous sequences from the distal end of the long arm to which probes 4D8, Hx120A, DX13, and St14 bind as well as the locus for glucose-6-phosphate dehydrogenase (G6PD) were duplicated on the rec(X). Mouse-human cell hybrids were constructed that retained the rec(X) in the active or inactive state. Analyses of these hybrid clones for markers from the distal short arm of the X chromosome showed that the rec(X) retained the loci for steroid sulfatase (STS) and the cell surface antigen 12E7 (MIC2); but not the pseudoautosomal sequence 113D. These molecular studies confirm that the rec(X) is a duplication-deficiency chromosome as expected. In the inactive state in cell hybrids, STS and MIC2 (which usually escape X chromosome inactivation) were expressed from the rec(X), whereas G6PD was not. Therefore, in the rec(X) X chromosome inactivation has spread through STS and MIC2 leaving these loci unaffected and has inactivated G6PD in the absence of an inactivation center in the q26.3----qter region of the human X chromosome. The mechanism of spreading of inactivation appears to operate in a sequence-specific fashion. Alternatively, STS and MIC2 may have undergone inactivation initially but could not be maintained in an inactive state. Images PMID:3474636

  17. Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation

    SciTech Connect

    Mohandas, T.; Geller, R.L.; Yen, P.H.; Rosendorff, J.; Bernstein, R.; Yoshida, A.; Shapiro, L.J.

    1987-07-01

    A pericentric inversion of human X chromosome and a recombinant X chromosome (rec(X)) derived from crossing-over within the inversion was identified in a family. The rec(X) had a duplication of the segment Xq26.3 ..-->.. Xqter and a deletion of Xp22.3 ..-->.. Xpter and was interpreted to be Xqter ..-->.. Xq26.3::Xp22.3 ..-->.. Xqter. To characterize the rec(X) chromosome, dosage blots were done on genomic DNA from carriers of this rearranged X chromosome using a number of X chromosome probes. Results showed that anonymous sequences from the distal end of the long arm to which probes 4D8, Hx120A, DX13, and St14 bind as well as the locus for glucose-6-phosphate dehydrogenase (G6PD) wee duplicated on the rec(X). Mouse-human cell hybrids were constructed that retained the rec(X) in the active or inactive state. Analyses of these hybrid clones for markers from the distal short arm of the X chromosome showed that the rec(X) retained the loci for steroid sulfatase (STS) and the cell surface antigen 12E7 (MIC2); but not the pseudoautosomal sequence 113D. These molecular studies confirm that the rec(X) is a duplication-deficiency chromosome as expected. In the inactive state in cell hybrids, STS and MIC2 (which usually escape X chromosome inactivation) were expressed from the rec(X), whereas G6PD was not. Therefore, in the rec(X) X chromosome inactivation has spread through STS and MIC2 leaving these loci unaffected and has inactivated G6PD in the absence of an inactivation center in the q26.3 ..-->.. qter region of the human X chromosome. The mechanism of spreading of inactivation appears to operate in a sequence-specific fashion. Alternatively, STS and MIC2 may have undergone inactivation initially but could not be maintained in an inactive state.

  18. 'NEANTHES ARENACEODENTATA', A CYTOGENETIC MODEL FOR MARINE GENETIC TOXICOLOGY

    EPA Science Inventory

    Genetic toxicants are present in polluted marine environments and may represent a long-term threat to populations of marine organisms. A cytogenetic model is useful to study the effects of these toxicants. The polychaeta, Neanthes arenaceodentata, was chosen as such a model becau...

  19. [Cytogenetic activity of the butylcaptax defoliant transformation product].

    PubMed

    Vesmanova, O Ia; Semykina, E E; Koblov, R K; Ergashev

    1989-01-01

    Cytogenetical activity of the product of metabolitic butylcaptax transformations in cells of cotton plants G. barbadense has been studied. It is shown that butylcaptax, with a significant mutagenicity, looses its mutagenic activity, metabolizing in low mutagenic 2-oxyamylthiobenzthiazole. Low water solubility prevents its concentration to exceed 0.005% in tissue liquids and to exert a mutagenic action on cotton plants. PMID:2773061

  20. Occurrence and prognostic significance of cytogenetic evolution in patients with multiple myeloma

    PubMed Central

    Binder, M; Rajkumar, S V; Ketterling, R P; Dispenzieri, A; Lacy, M Q; Gertz, M A; Buadi, F K; Hayman, S R; Hwa, Y L; Zeldenrust, S R; Lust, J A; Russell, S J; Leung, N; Kapoor, P; Go, R S; Gonsalves, W I; Kyle, R A; Kumar, S K

    2016-01-01

    Cytogenetic evaluation at the time of diagnosis is essential for risk stratification in multiple myeloma, however little is known about the occurrence and prognostic significance of cytogenetic evolution during follow-up. We studied 989 patients with multiple myeloma, including 304 patients with at least two cytogenetic evaluations. Multivariable-adjusted regression models were used to assess the associations between the parameters of interest and cytogenetic evolution as well as overall survival. The prognostic significance of baseline cytogenetic abnormalities was most pronounced at the time of diagnosis and attenuated over time. In the patients with serial cytogenetic evaluations, the presence of t(11;14) at the time of diagnosis was associated with decreased odds of cytogenetic evolution during follow-up (odds ratio (OR)=0.22, 95% confidence interval (CI)=0.09–0.56, P=0.001), while the presence of at least one trisomy or tetrasomy was associated with increased odds (OR=2.96, 95% CI=1.37–6.42, P=0.006). The development of additional abnormalities during the 3 years following diagnosis was associated with increased subsequent mortality (hazard ratio=3.31, 95% CI=1.73–6.30, P<0.001). These findings emphasize the importance of the underlying clonal disease process for risk assessment and suggest that selected patients may benefit from repeated risk stratification. PMID:26967818

  1. [Dynamic study of the cytogenetic effects in blood lymphocytes from humans living in the Chernobyl Atomic Energy Station exclusion zone without permission].

    PubMed

    Bezdrobnaia, L K; Tsyganok, T V; Romanova, E P; Tarasenko, L V; Fedorchenko, V I

    2002-01-01

    The cytogenetic examination of a group of people, self-residing in ChNPP Exclusion Zone with soil contamination density 137Cs 74-477 kBq/m2, 90Sr 33-289 kBq/m2, 238, 239 + 240Pu 1.5-10.0 kBq/m2, was conducted in 1998-1999 and also 2001. It is shown, that after 12-15 years of the accident the level of chromosome damages in Zone self-residents' lymphocytes detected by a routine analysis is higher then at the residents of control Yagotin district, Kiev region and comes to a plateau. Lymphocytes with multiple chromosome damages are detected. The probability of its transuranium elements induction which are present in the Zone is discussed at present. PMID:12530160

  2. Cytogenetics of monosomes in Zea mays. Final report

    SciTech Connect

    Weber, D.F.

    1984-11-01

    The cytogenetics of monosomics in maize generated using the r-X1 system was studied. The goal was to isolate as many as possible of the ten possible primary monosomic types and to characterize them by studying: (1) the cytology of meiosis; (2) the cytological behavior of monosomic chromosomes in meiosis; (3) the effect of monosomic on recombination in heterozygous bivalents; and (4) the frequency and types of spontaneous chromosomal aberrations arising in monosomics. 113 references, 1 figure, 5 tables. (ACR)

  3. Residual disease detected by multidimensional flow cytometry shows prognostic significance in childhood acute myeloid leukemia with intermediate cytogenetics and negative FLT3-ITD: a report from the Tokyo Children's Cancer Study Group.

    PubMed

    Keino, Dai; Kinoshita, Akitoshi; Tomizawa, Daisuke; Takahashi, Hiroyuki; Ida, Kohmei; Kurosawa, Hidemitsu; Koike, Kazutoshi; Ota, Setsuo; Iwasaki, Noriyuki; Fujimura, Junya; Yuza, Yuki; Kiyotani, Chikako; Yamamoto, Shohei; Osumi, Tomoo; Ueda, Takahiro; Mochizuki, Shinji; Isoyama, Keiichi; Hanada, Ryoji; Tawa, Akio; Manabe, Atsushi; Toguchi, Yoichi; Ohara, Akira

    2016-04-01

    Residual disease (RD) after induction chemotherapy may predict clinical outcome in acute myeloid leukemia (AML). In the present study, we investigated the prognostic significance of RD detected by multidimensional flow cytometry (MDF) among 34 children treated for AML in a clinical trial (JPLSG AML-05) in Japan. Bone marrow samples were analyzed at the points of the end of the first induction course (BMA-1) and second induction course (BMA-2) by MDF. RD was evaluated by detecting the immature cells showing abnormal antigen expression pattern; CD34(+), CD15(+), CD7(+). Thirteen (39.4 %) of 34 patients at BMA-1 and 8 (27.6 %) of 34 at BMA-2 had RD levels ≥0.1 %. There was no significant difference in 3y-EFS and 3y-OS between patients with RD levels ≥0.1 % and those with RD levels <0.1 % (53.8 versus 70.0 %, P = 0.30 and 50.0 versus 66.7 %, P = 0.27, respectively). However, IR cytogenetics and negative FLT3-ITD patients with RD levels ≥0.1 % exhibited significantly lower 3y-EFS and 3y-OS than those with RD levels <0.1 % (33.3 versus 83.3 %, P = 0.02 and 20.0 versus 76.9 %, P = 0.005, respectively). Our study suggests that RD shows prognostic relevance in pediatric patients with IR cytogenetics and negative FLT3-ITD AML. PMID:26781613

  4. Integrated cytogenetics and genomics analysis of transposable elements in the Nile tilapia, Oreochromis niloticus.

    PubMed

    Valente, Guilherme; Kocher, Thomas; Eickbush, Thomas; Simões, Rafael P; Martins, Cesar

    2016-06-01

    Integration of cytogenetics and genomics has become essential to a better view of architecture and function of genomes. Although the advances on genomic sequencing have contributed to study genes and genomes, the repetitive DNA fraction of the genome is still enigmatic and poorly understood. Among repeated DNAs, transposable elements (TEs) are major components of eukaryotic chromatin and their investigation has been hindered even after the availability of whole sequenced genomes. The cytogenetic mapping of TEs in chromosomes has proved to be of high value to integrate information from the micro level of nucleotide sequence to a cytological view of chromosomes. Different TEs have been cytogenetically mapped in cichlids; however, neither details about their genomic arrangement nor appropriated copy number are well defined by these approaches. The current study integrates TEs distribution in Nile tilapia Oreochromis niloticus genome based on cytogenetic and genomics/bioinformatics approach. The results showed that some elements are not randomly distributed and that some are genomic dependent on each other. Moreover, we found extensive overlap between genomics and cytogenetics data and that tandem duplication may be the major mechanism responsible for the genomic dynamics of TEs here analyzed. This paper provides insights in the genomic organization of TEs under an integrated view based on cytogenetics and genomics. PMID:26860923

  5. Cytogenetic and molecular analysis in trisomy 12p

    SciTech Connect

    Allen, T.L.; Brothman, A.R.; Carey, J.C.

    1996-05-03

    We studied a male patient with de novo pure trisomy 12p syndrome by molecular analysis and fluorescence in situ hybridization (FISH) with markers from chromosome 12. G-banding studies demonstrated a 46,XY, 22p+ karyotype and the banding pattern and clinical findings suggested that the extra chromosomal material was derived from 12p. Trisomy 12p was confirmed by dosage analysis with chromosome 12p markers and FISH analysis with a whole chromosome 12 paint. The de novo rearranged chromosome was of paternal origin. A comparison of the clinical and cytogenetic findings in this patient was made with previously described cases of trisomy 12p. We propose a classification system for 12p trisomy in order to better characterize the correlative relationships between specific cytogenetic constitution and phenotype. 32 refs., 5 figs., 2 tabs.

  6. Significance of Persistent Cytogenetic Abnormalities at Myeloablative Allogeneic Stem Cell Transplantation in First Complete Remission

    PubMed Central

    Oran, Betul; Popat, Uday; Rondon, Gabriella; Ravandi, Farhad; Garcia-Manero, Guillermo; Abruzzo, Lynn; Andersson, Borje S.; Bashir, Qaiser; Chen, Julianne; Kebriaei, Partow; Khouri, Issa F.; Koca, Ebru; Qazilbash, Muzaffar H.; Champlin, Richard; de Lima, Marcos

    2014-01-01

    Risk stratification is important to identify acute myeloid leukemia (AML) patients that might benefit from allogeneic hematopoietic stem cell transplantation (allo-HCT) in first complete remission (CR1). We retrospectively studied 150 AML patients with diagnostic cytogenetic abnormalities receiving myeloablative allo-HCT in CR1 to determine the prognostic impact of persistent cytogenetic abnormalities at allo-HCT. Three risk groups were identified: First group of patients with favorable/intermediate cytogenetics at diagnosis (n=49) and the second group with unfavorable cytogenetics at diagnosis but without the presence of persistent abnormal clone at allo-HCT (n=83) had similar 3-year leukemia free survival (LFS) of 58%-60% despite increased 3-year relapse incidence (RI) of 32.3% observed in the second risk group versus 16.8% in the first group. Third group of patients with unfavorable cytogenetics at diagnosis and persistence of that clone at allo-HCT (n=15) represented the worst prognostic group with 3-year RI of 57.5% and 3-year LFS of 29.2%. These data suggest that AML patients with unfavorable cytogenetics at diagnosis and persistence of abnormal clone at allo-HCT have high risk of relapse after allo-HCT. These patients should be considered for clinical trials designed to optimize conditioning regimens and/or to use preemptive strategies in the post-transplant setting to decrease the relapse incidence. PMID:22982533

  7. Comparative cytogenetics of Auchenorrhyncha (Hemiptera, Homoptera): a review

    PubMed Central

    Kuznetsova, Valentina; Aguin-Pombo, Dora

    2015-01-01

    Abstract A comprehensive review of cytogenetic features is provided for the large hemipteran suborder Auchenorrhyncha, which currently contains approximately 42,000 valid species. This review is based on the analysis of 819 species, 483 genera, and 31 families representing all presently recognized Auchenorrhyncha superfamilies, e.i. Cicadoidea (cicadas), Cercopoidea (spittle bugs), Membracoidea (leafhoppers and treehoppers), Myerslopioidea (ground-dwelling leafhoppers), and Fulgoroidea (planthoppers). History and present status of chromosome studies are described, as well as the structure of chromosomes, chromosome counts, trends and mechanisms of evolution of karyotypes and sex determining systems, their variation at different taxonomic levels and most characteristic (modal) states, occurrence of parthenogenesis, polyploidy, B-chromosomes and chromosome rearrangements, and methods used for cytogenetic analysis of Auchenorrhyncha. PMID:26807037

  8. Cytogenetic index and functional genome alterations in Chironomus piger Strenzke (Diptera, Chironomidae) in the assessment of sediment pollution: a case study of Bulgarian and UK rivers.

    PubMed

    Michailova, P; Ilkova, J; Dean, A P; White, K N

    2015-01-01

    The genotoxicity of trace metals in the sediments from a number of polluted sites on UK and Bulgarian rivers to Chironomus piger was assessed by an examination of genome instability as demonstrated by structural and functional changes to the salivary glands chromosomes. Based on the metal assays, the sediments were characterized to range from 'extremely' to 'strongly contaminated'. The cytogenetic index calculated on the basis of somatic structural chromosome alterations in the polytene chromosomes indicates a high level of pollution (0.07-0.06 in Bulgarian and 0.10-0.13 in UK stations). Exposure of C. piger to contaminated sediments resulted in a high level of chromosome damage as indicated by a somatic index of between 1.96 and 4.0. The transcription mechanism of the Balbiani rings and nucleolar organizer was damaged as their activity was either partially or completely suppressed. We have demonstrated that the C. piger genome is a sensitive sublethal indicator of sediment contamination, and is a highly suitable candidate for ecotoxicological monitoring of running waters. PMID:25450937

  9. Comparison between two FISH techniques in the in vitro study of cytogenetic markers for low-dose X-ray exposure in human primary fibroblasts

    PubMed Central

    Nieri, D.; Berardinelli, F.; Antoccia, A.; Tanzarella, C.; Sgura, Antonella

    2013-01-01

    This work is about the setup of an in vitro system to report low-dose of X-rays as measured as cytogenetic damage. Q- and multicolor FISH (m-FISH), for telomere length and chromosome instability analysis, respectively, were compared to evaluate their sensitivity in the low-dose range in human primary fibroblasts. No telomere length modulation was observed up to 1 Gy in cycling fibroblasts, though reported for high doses, by that frustrating the purpose of using it as a low-exposure marker. To date the m-FISH is the best setup for the assessment of the chromosome structural damage: it allows stable and instable aberrations to be detected all over the karyotype. Stable ones such as balanced translocations, are not eliminated due to cell-cycle as unstable ones, so they are considered transmissible markers for retrospective dosimetry. The induction of chromosome damage showed a clear dependence on dose delivered; unstable aberrations were demonstrated after doses of 0.1 Gy, and stable aberrations after doses higher than 0.5 Gy. Summarizing, q-FISH is unfit to report low exposures while m-FISH provides better results: unstable aberrations are sensible short-term reporters, while stable ones long report exposures but with a higher induction threshold. PMID:23908663

  10. Canine Cytogenetics - From band to basepair

    PubMed Central

    Breen, Matthew

    2008-01-01

    Humans and dogs have coexisted for thousands of years, during which time we have developed a unique bond, centered on companionship. Along the way, we have developed purebred dog breeds in a manner that has resulted unfortunately in many of them being affected by serious genetic disorders, including cancers. With serendipity and irony the unique genetic architecture of the 21st Century genome of Man's best friend may ultimately provide many of the keys to unlock some of nature's most intriguing biological puzzles. Canine cytogenetics has advanced significantly over the past 10 years, spurred on largely by the surge of interest in the dog as a biomedical model for genetic disease and the availability of advanced genomics resources. As such the role of canine cytogenetics has moved rapidly from one that served initially to define the gross genomic organization of the canine genome and provide a reliable means to determine the chromosomal location of individual genes, to one that enabled the assembled sequence of the canine genome to be anchored to the karyotype. Canine cytogenetics now presents the biomedical research community with a means to assist in our search for a greater understanding of how genome architectures altered during speciation and in our search for genes associated with cancers that affect both dogs and humans. The cytogenetics ‘toolbox’ for the dog is now loaded. This review aims to provide a summary of some of the recent advancements in canine cytogenetics. PMID:18467825

  11. 42 CFR 493.1225 - Condition: Clinical cytogenetics.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... Testing § 493.1225 Condition: Clinical cytogenetics. If the laboratory provides services in the specialty of Clinical cytogenetics, the laboratory must meet the requirements specified in §§ 493.1230 through... 42 Public Health 5 2010-10-01 2010-10-01 false Condition: Clinical cytogenetics. 493.1225...

  12. 42 CFR 493.1225 - Condition: Clinical cytogenetics.

    Code of Federal Regulations, 2011 CFR

    2011-10-01

    ... 42 Public Health 5 2011-10-01 2011-10-01 false Condition: Clinical cytogenetics. 493.1225 Section... Testing § 493.1225 Condition: Clinical cytogenetics. If the laboratory provides services in the specialty of Clinical cytogenetics, the laboratory must meet the requirements specified in §§ 493.1230...

  13. Increased cytogenetic damage in outdoor painters.

    PubMed

    Pinto, D; Ceballos, J M; García, G; Guzmán, P; Del Razo, L M; Vera, E; Gómez, H; García, A; Gonsebatt, M E

    2000-05-01

    Painters are exposed to an extensive variety of hazardous substances such as organic solvents, lead-containing pigments and residual plastic monomers. In this particular case, workers used commercially available exterior paints and occasionally gasoline or thinner as solvents. The application or removal of paints was performed without protection (masks or gloves). To determine occupational exposure risk, a monitoring study was designed. Group selection was made after a questionnaire administration, which included questions about lifestyle and medical history to exclude exposure to other potential sources of genotoxics. Smoking and drinking habits were also considered. Blood and buccal cell samples were obtained from 25 public building male painters and from a similar number of age- and gender-matched controls. Lead levels were measured in paint samples and in individuals' blood. Organic solvents and/or its metabolites were also determined in blood. Chromosomal aberrations (CA) and sister chromatid exchanges (SCE) were determined in peripheral blood lymphocyte cultures. Also, the frequency of micronuclei (MN) in buccal cells was investigated. Painters had higher lead levels in blood (p<0.05); CA and SCE in lymphocytes and MN in epithelial cells were also elevated (p<0.05). Cytogenetic damage was significantly associated with occupational exposure time but not with the levels of lead found in blood. PMID:10838197

  14. Banding cytogenetic analysis in pediatric patients with acute lymphoblastic leukemia (ALL) in a Brazilian population

    PubMed Central

    2013-01-01

    Background Cytogenetic studies in Brazilian population about childhood acute lymphoblastic leukemia (ALL), the most common childhood malignancy, are scarce. Moreover, Brazilian race is very heterogeneous and is made by the confluence of people of several different origins, from the original Native Brazilians, with the influx of Portuguese colonizers, Black African slaves, and recent European, Arab and Japanese immigration. The purpose of this prospective, multicentric study was to assess the sociodemographic, clinic and cytogenetic characteristics of the children treated for ALL in the Northeast region of Brazil. Results This study includes thirty patients between 4 months and 17 years old treated for ALL from January 1st, 2009 to November 30th, 2010. Cytogenetic analysis showed that in nineteen out of thirty patients (64%) presented some chromosome abnormalities, in which 53% corresponds to numerical abnormalities, 21% structural and numerical abnormalities, and 26% only structural changes. Moreover, seven patients presented complexes karyotype not yet described in the literature. Taken together these results show the importance of the cytogenetic analysis in ALL pediatric patients and illustrates that the studied population presented unexpected complexes karyotypes which were correlated to poor outcome. Conclusion The results demonstrate the importance of banding cytogenetics for ALL diagnosis despite the use of most modern techniques such as FISH and aCGH, and provide reliable insight into the ALL in Brazil. PMID:24025689

  15. CYTOGENETIC EFFECTS OF PHOSPHINE INHALATION BY RODENTS

    EPA Science Inventory

    Phosphine (PH3) is a highly toxic grain fumigant that can be produced from the reaction of metal phosphides with water. o determine the in vivo cytogenetic effects of inhalation of PH3, male CD-1 mice were exposed to either 0, 5, 10, or 15 ppm target concentrations of PH3 for 6 h...

  16. Impact of Imatinib Adherence on the Cytogenetic Response in Pediatric Chronic Myeloid Leukemia - Chronic Phase.

    PubMed

    Ganta, Ranga Raman; Nasaka, Srividya; Gundeti, Sadashivudu

    2016-09-01

    The authors aimed to study the impact of adherence to imatinib during initial 6 mo on the cytogenetic response in pediatric chronic myeloid leukemia - chronic phase (CML CP). The hospital records of pediatric CML patients (age ≤18 y) from 2009 through 2012, were analyzed retrospectively for the drug adherence and cytogenetic response (CyR) at 6 mo. Forty eight children were analyzed, with the median age of 13 y (range 5-18) and slight male preponderance (M:F- 1.18:1). Sokal scores were low, intermediate and high in 14 (29.3 %), 26 (54.1 %), 8 (16.6 %) children respectively. Only a little more than half of the children were adherent (58 %). At the end of 6 mo, complete cytogenetic response (CCyR) was achieved by 78.5 % of adherent children as compared to 5 % of non-adherent children. Majority (80 %) of the non-adherent children had only a partial cytogenetic response (PCyR). Therefore, it is concluded that most of the adherent children had optimal cytogenetic response at the end of 6 mo and majority of those in the non-adherent group did not attain it. PMID:26843266

  17. Evolutionary molecular cytogenetics of catarrhine primates: past, present and future.

    PubMed

    Stanyon, R; Rocchi, M; Bigoni, F; Archidiacono, N

    2012-01-01

    The catarrhine primates were the first group of species studied with comparative molecular cytogenetics. Many of the fundamental techniques and principles of analysis were initially applied to comparisons in these primates, including interspecific chromosome painting, reciprocal chromosome painting and the extensive use of cloned DNA probes for evolutionary analysis. The definition and importance of chromosome syntenies and associations for a correct cladistics analysis of phylogenomic relationships were first applied to catarrhines. These early chromosome painting studies vividly illustrated a striking conservation of the genome between humans and macaques. Contemporarily, it also revealed profound differences between humans and gibbons, a group of species more closely related to humans, making it clear that chromosome evolution did not follow a molecular clock. Chromosome painting has now been applied to more that 60 primate species and the translocation history has been mapped onto the major taxonomic divisions in the tree of primate evolution. In situ hybridization of cloned DNA probes, primarily BAC-FISH, also made it possible to more precisely map breakpoints with spanning and flanking BACs. These studies established marker order and disclosed intrachromosomal rearrangements. When applied comparatively to a range of primate species, they led to the discovery of evolutionary new centromeres as an important new category of chromosome evolution. BAC-FISH studies are intimately connected to genome sequencing, and probes can usually be assigned to a precise location in the genome assembly. This connection ties molecular cytogenetics securely to genome sequencing, assuring that molecular cytogenetics will continue to have a productive future in the multidisciplinary science of phylogenomics. PMID:22710640

  18. Cytogenetic effect of 5-azacytidine in patients with hematological malignancies

    PubMed Central

    Tsuda, Jessica Romy; Segato, Rosimeire; Barbosa, Waldênia; Smith, Marília de Arruda Cardoso; Payão, Spencer Luiz Marques

    2011-01-01

    Background Recently, the importance of cytogenetics has grown in the diagnosis, prognosis and treatment of leukemias and myelodysplastic syndromes. 5-azacytidine is a drug that has well-known cytogenetical effects and is approved in the treatment of myelodysplastic syndromes. To date, no studies have been performed to evaluate the impact of 5-azacytidine on the chromosomes of patients with hematological neoplasias. This study aimed to investigate the effects of 5-azacytidine on chromosomes of patients with different hematological malignancies using G-band analyses to identify possible cytogenetical alterations. Methods The peripheral blood of 18 patients with hematological malignancies and 18 controls was collected in heparinized tubes. 5-azacytidine was added, at a final concentration of 10-5M, to cultures 7 hours prior to harvest. Results Uncoiled centromeric/pericentromeric heterochromatin of chromosomes-1, 9 and 16 occurred more frequently in the patients than in controls. This higher frequency of uncoiled heterochromatin was statistically significant (p-value = 0.004) for chromosome-9. Conversely, we observed that the fragile site at 19q13 was more frequent in controls (p-value = 0.0468). Conclusions The results of this study suggest that satellite sequences, located in the heterochromatin of chromosome-9, are hypomethylated in hematological malignancies. This hypomethylation may contribute to the disease, activating transposable elements and/or promoting genomic instability, enabling the loss of heterozygosity of important tumor suppressor genes. An investigation of the 19q13 region may help to understand whether or not the predominant occurrence of the fragile site at 19q13 in controls is due to hypermethylation of this region. PMID:23049342

  19. Cytogenetic response of Scots pine (Pinus sylvestris Linnaeus, 1753) (Pinaceae) to heavy metals

    PubMed Central

    Belousov, Mikhail Vladimirovich; Mashkina, Olga Sergeyevna; Popov, Vasily Nikolayevich

    2012-01-01

    Abstract We studied cytogenetic reactions of Scots pine seedlings to heavy metals – lead, cupric and zinc nitrates applied at concentrations 0.5 to 2000 µM. We determined the range of concentrations of heavy metals that causes mutagenic effect. Lead was found to cause the strongest genotoxicity as manifested by significant increase in the frequency of pathological mitosis, occurrence of fragmentations and agglutinations of chromosomes, various types of bridges, and a significant number of the micronuclei which were absent in the control. Possible cytogenetic mechanisms of the cytotoxic action of heavy metals are discussed. PMID:24260654

  20. Cytogenetic abnormalities and monosomal karyotypes in children and adolescents with acute myeloid leukemia: correlations with clinical characteristics and outcome.

    PubMed

    Manola, Kalliopi N; Panitsas, Fotios; Polychronopoulou, Sophia; Daraki, Aggeliki; Karakosta, Maria; Stavropoulou, Cryssa; Avgerinou, Georgia; Hatzipantelis, Emmanuel; Pantelias, Gabriel; Sambani, Constantina; Pagoni, Maria

    2013-03-01

    The whole spectrum of chromosomal abnormalities and their prognostic significance in children and adolescents with acute myeloid leukemia (AML) has not been fully elucidated yet, although a considerable amount of knowledge has been gained recently. Moreover, the incidence and prognostic impact of monosomal karyotypes (MKs), which are new cytogenetic categories reported recently in adults with AML, are currently unknown for childhood and adolescent AML. In this study, we investigated the cytogenetic and clinical characteristics of 140 children and adolescents (≤21 y) with AML, and correlated their cytogenetic features with both the clinical characteristics and outcomes of our patient cohort. The most frequent cytogenetic abnormality found in our study was the t(15;17), followed by the t(8;21). Striking differences in the genetic abnormalities and French-American-British subtypes were found among infants, children, and adolescents. Of 124 cases, 15 (12.1%) met the criteria of the MK definition, and 12 of the 15 MKs (80%) were complex karyotypes. Of 124 cases, 27 (21.8%) had cytogenetic abnormalities sufficient to be diagnosed as AML with myelodyspastic sydrome-related features. As expected, patients with the t(15;17) had the most favorable outcomes, whereas patients with 11q23 rearrangements and monosomy 7 had the worst outcomes. These data expand our knowledge by providing novel insights into the cytogenetic features and their correlations with clinical characteristics and outcomes in childhood and adolescent AML. PMID:23411131

  1. Prognostic impact of persistent cytogenetic abnormalities at complete remission in adult patients with acute lymphoblastic leukemia.

    PubMed

    Short, Nicholas J; Kantarjian, Hagop M; Jabbour, Elias J; O'Brien, Susan M; Faderl, Stefan; Burger, Jan A; Garris, Rebecca; Qiao, Wei; Huang, Xuelin; Jain, Nitin; Konopleva, Marina; Kadia, Tapan M; Daver, Naval; Borthakur, Gautam; Cortes, Jorge E; Ravandi, Farhad

    2016-06-01

    In acute myelogenous leukemia, the persistent detection of abnormal cytogenetics at complete remission (ACCR) is associated with inferior outcomes. However, the prognostic significance of ACCR in adult patients with acute lymphoblastic leukemia (ALL) is unknown. We evaluated 272 adult patients with ALL and abnormal cytogenetics at baseline who were treated with frontline induction chemotherapy, achieved complete remission (CR) and had cytogenetic analysis performed at the time of CR. ACCR was observed in 26 patients (9.6%). Median relapse-free survival was 22 months (95% CI, 12 months to not reached) for patients with ACCR vs. 48 months (range, 30-125 months) in patients with normal cytogenetics at CR (NCCR; P = 0.31). Median overall survival also did not differ significantly between the ACCR (99 months [range, 17 months to not reached]) and NCCR groups (67 months [range, 47 months to not reached], P = 0.86). The specificity of ACCR for minimal residual disease (MRD) positivity by multi-parameter flow cytometry (MFC) was 43%, and there was overall poor correlation between these two methods for the detection of residual disease. When patients were stratified by MRD status, the presence or absence of persistent cytogenetic abnormalities at CR did not add additional prognostic information. This study suggests that there is poor association between MRD assessment by MFC and the presence or absence of cytogenetic abnormalities at CR in adult patients with ALL. ACCR was not associated with adverse outcomes in ALL and did not add additional prognostic information when MRD status by MFC was known. PMID:26800008

  2. Cytogenetic heterogeneity and their serial dynamic changes during acquisition of cytogenetic aberrations in cultured mesenchymal stem cells.

    PubMed

    Kim, Jung-Ah; Im, Kyong Ok; Park, Si Nae; Kwon, Ji Seok; Kim, Seon Young; Oh, Keunhee; Lee, Dong-Sup; Kim, Min Kyung; Kim, Seong Who; Jang, Mi; Lee, Gene; Oh, Yeon-Mok; Lee, Sang Do; Lee, Dong Soon

    2015-07-01

    To minimize the risk of tumorigenesis in mesenchymal stem cells (MSCs), G-banding analysis is widely used to detect chromosomal aberrations in MSCs. However, a critical limitation of G-banding is that it only reflects the status of metaphase cells, which can represent as few as 0.01% of tested cells. During routine cytogenetic testing in MSCs, we often detect chromosomal aberrations in minor cell populations. Therefore, we aimed to investigate whether such a minority of cells can expand over time or if they ultimately disappear during MSC passaging. We passaged MSCs serially while monitoring quantitative changes for each aberrant clone among heterogeneous MSCs. To investigate the cytogenetic status of interphase cells, which represent the main population, we also performed interphase FISH analysis, in combination with G-banding and telomere length determination. In human adipose tissue-derived MSCs, 4 types of chromosomal aberrations were found during culturing, and in umbilical cord MSCs, 2 types of chromosomal aberrations were observed. Sequential dynamic changes among heterogeneous aberrant clones during passaging were similar to the dynamic changes observed in cancer stem cells during disease progression. Throughout all passages, the quantitative G-banding results were inconsistent with those of the interphase FISH analysis. Interphase FISH revealed hidden aberrations in stem cell populations with normal karyotypes by G-banding analysis. We found that telomere length gradually decreased during passaging until the point at which cytogenetic aberrations appeared. The present study demonstrates that rare aberrant clones at earlier passages can become predominant clones during later passages. Considering the risk of tumorigenesis due to aberrant MSCs, we believe that our results will help to establish proper safety guidelines for MSC use. In particular, we believe it is critical to test for chromosomal aberrations using both G-banding and FISH to ensure the safety

  3. Isolation, proliferation, cytogenetic, and molecular characterization and in vitro differentiation potency of canine stem cells from foetal adnexa: a comparative study of amniotic fluid, amnion, and umbilical cord matrix.

    PubMed

    Filioli Uranio, M; Valentini, L; Lange-Consiglio, A; Caira, M; Guaricci, A C; L'Abbate, A; Catacchio, C R; Ventura, M; Cremonesi, F; Dell'Aquila, M E

    2011-05-01

    The possibility to isolate canine mesenchymal stem cells (MSCs) from foetal adnexa is interesting since several canine genetic disorders are reported to resemble similar dysfunctions in humans. In this study, we successfully isolated, cytogenetically and molecularly characterized, and followed the differentiation potency of canine MSCs from foetal adnexa, such as amniotic fluid (AF), amniotic membrane (AM), and umbilical cord matrix (UCM). In the three types of cell lines, the morphology of proliferating cells typically appeared fibroblast-like, and the population doubling time (DT) significantly increased with passage number. For AF- and AM-MSCs, cell viability did not change with passages. In UCM-MSCs, cell viability remained at approximately constant levels up to P6 and significantly decreased from P7 (P < 0.05). Amnion and UCM-MSCs expressed embryonic and MSC markers, such as Oct-4 CD44, CD184, and CD29, whereas AF-MSCs expressed Oct-4, CD44. Expression of the hematopoietic markers CD34 and CD45 was not found. Dog leucocyte antigens (DLA-DRA1 and DLA-79) were expressed only in AF-MSCs at P1. Isolated cells of the three cell lines at P3 showed multipotent capacity, and differentiated in vitro into neurocyte, adipocyte, osteocyte, and chondrocyte, as demonstrated by specific stains and expression of molecular markers. Cells at P4 showed normal chromosomal number, structure, and telomerase activity. These results demonstrate that, in dog, MSCs can be successfully isolated from foetal adnexa and grown in vitro. Their proven stemness and chromosomal stability indicated that MSCs could be used as a model to study stem cell biology and have an application in therapeutic programs. PMID:21491540

  4. Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview.

    PubMed

    Manola, Kalliopi N

    2013-10-01

    Acute leukaemia of ambiguous lineage (ALAL) is a rare complex entity with heterogeneous clinical, immunophenotypic, cytogenetic and molecular genetic features and adverse outcome. According to World Health Organization 2008 classification, ALAL encompasses those leukaemias that show no clear evidence of differentiation along a single lineage. The rarity of ALAL and the lack of uniform diagnostic criteria have made it difficult to establish its cytogenetic features, although cytogenetic analysis reveals clonal chromosomal abnormalities in 59-91% of patients. This article focuses on the significance of cytogenetic analysis in ALAL supporting the importance of cytogenetic analysis in the pathogenesis, diagnosis, prognosis, follow up and treatment selection of ALAL. It reviews in detail the types of chromosomal aberrations, their molecular background, their correlation with immunophenotype and age distribution and their prognostic relevance. It also summarizes some novel chromosome aberrations that have been observed only once. Furthermore, it highlights the ongoing and future research on ALAL in the field of cytogenetics. PMID:23888868

  5. Comparative genomic hybridization in clinical cytogenetics

    SciTech Connect

    Bryndorf, T.; Kirchhoff, M.; Rose, H.

    1995-11-01

    We report the results of applying comparative genomic hybridization (CGH) in a cytogenetic service laboratory for (1) determination of the origin of extra and missing chromosomal material in intricate cases of unbalanced aberrations and (2) detection of common prenatal numerical chromosome aberrations. A total of 11 fetal samples were analyzed. Seven cases of complex unbalanced aberrations that could not be identified reliably by conventional cytogenetics were successfully resolved by CGH analysis. CGH results were validated by using FISH with chromosome-specific probes. Four cases representing common prenatal numerical aberrations (trisomy 21, 18, and 13 and monosomy X) were also successfully diagnosed by CGH. We conclude that CGH is a powerful adjunct to traditional cytogenetic techniques that makes it possible to solve clinical cases of intricate unbalanced aberrations in a single hybridization. CGH may also be a useful adjunct to screen for euchromatic involvement in marker chromosomes. Further technical development may render CGH applicable for routine aberration screening. 16 refs., 4 figs., 2 tabs.

  6. Cytogenetic effects of hexavalent chromium in Bulgarian chromium platers.

    PubMed

    Benova, Donka; Hadjidekova, Valeria; Hristova, Rossitza; Nikolova, Teodora; Boulanova, Minka; Georgieva, Ivanka; Grigorova, Mira; Popov, Todor; Panev, Teodor; Georgieva, Rossitza; Natarajan, Adayapalam T; Darroudi, Firouz; Nilsson, Robert

    2002-02-15

    The aim of the present study was to evaluate the genotoxic effects of hexavalent chromium (Cr(VI)) in vivo in exposed Bulgarian chromium platers by using classical cytogenetic and molecular cytogenetic analyses of peripheral lymphocytes and exfoliated buccal cells. No significant difference was observed between the exposed workers and the controls with regard to the frequency of cells with chromosome aberrations (CAs) using conventional Giemsa staining and in the frequency of sister chromatid exchanges (SCEs). However, there was a significant increase in the number of cells with micronuclei (MN) in peripheral lymphocytes from chromium exposed workers as compared to the controls. In the buccal cells from these workers, this increase was even more pronounced. Cytosine arabinoside (AraC), an inhibitor of DNA synthesis and repair, was found to significantly increase the levels of MN in vitro in the lymphocytes of both groups. The increase was more expressed in the lymphocytes of chromium exposed workers. Both centromere positive (C(+)) as well as centromere negative (C(-)) MN were observed by the fluorescence in situ hybridization (FISH) technique in both of the cell types studied. No difference between C(+) and C(-) MN frequencies was found in the lymphocytes as well as in the buccal cells. Thus, Cr(VI) appears to have both clastogenic as well as aneugenic effects in humans. PMID:11815242

  7. Cytogenetics of monosomes in Zea mays. Comprehensive report, February 1, 1977-May 15, 1980

    SciTech Connect

    Weber, D. F.

    1980-02-01

    Progress is reported in research on the cytogenetics of maize. The study has identified genetic factors that control the meiotic process, genetic recombination, lipid biosynthesis, and the free amino acid pool. It has also been determined that distributive pairing, gene compensation, and gene magnification do not occur in maize. (ACR)

  8. Comparative cytogenetic analysis of marine needlefishes (Beloniformes) from southern Brazil.

    PubMed

    Cipriano, Roger Raupp; Noleto, Rafael Bueno; Kantek, Daniel Luis Zanella; da Silva Cortinhas, Maria Cristina; Cestari, Marta Margarete

    2016-08-01

    Cytogenetic studies have assisted in the taxonomic classification of organisms, especially those involving species with highly similar morphologic characteristics, or so-called cryptic species. Strongylura marina and Strongylura timucu collected from Paranaguá Bay, Paraná Coast in Southern Brazil are considered cryptic species, and the identification of interspecific variations based on the number and/or morphology of its chromosomes may serve as differentiating cytotaxonomic markers. Chromosomes of the two species were subjected to different banding and staining methods (C-, Ag-, and DAPI-CMA3), as well as chromosomal mapping of major rDNA (45S), revealed with an 18S probe by fluorescence in situ hybridization (FISH). The pattern of distribution of constitutive heterochromatin showed distinct features involving the pericentromeric and telomeric bands in both species. In S. marina, chromosome 1 represents the main species-specific marker, appearing almost entirely heterochromatic. In both species, the 45S rDNA is located at terminal region of the short arm of the chromosome 6, as detected by silver nitrate staining and FISH. Despite the apparent conserved diploid number of 48 chromosomes, data on the karyotype microstructure characterize the cytogenetic profile of the genus and may allow the establishment of cytotaxonomic and evolutionary inferences for these fishes. PMID:25388873

  9. Molecular and cytogenetic assessment of Dipterygium glaucum genotoxicity.

    PubMed

    Altwaty, Nada H; El-Sayed, Osama E; Aly, Nariman A H; Baeshen, Mohamed N; Baeshen, Nabih A

    2016-01-01

    The aim of the present study is to assess the genotoxicity of Dipterygium glaucum grows widely in Saudi Arabia desert to produce safety herbal products. This work is considered the first and pioneer report so far due to the lack and poor evaluated reports of the plant species for their mutagensity, genotoxicity and cytogenetics effects. Cytogenetic effects of D. glaucum on mitotic in roots of Vicia faba showed reduction in mitotic activity using three extracts; water, ethanol and ethyl acetate. Chromosomal abnormalities were recorded that included stickiness of chromosomes, chromatin bridge, fragments, lagging chromosome and micronuclei. Protein bands and RAPD analyses of V. faba treated with three D. glaucum extracts revealed some newly induced proteins and DNA fragments and other disappeared. Chemical constitution of the plant species should be identified with their biological activities against human and animal cells like HeLa cancer cell line. We are recommending using additional genotoxicity tests and other toxicity tests on animal culture with different concentrations and also utilizing several drought and heat tolerant genes of the plant species in gene cloning to develop and improve other economical crop plants instead of using the species as oral herbal remedy. PMID:27142548

  10. The results of selective cytogenetic monitoring of Chernobyl accident victims in the Ukraine

    SciTech Connect

    Pilinskaya, M.A.

    1996-07-01

    Selective cytogenetic monitoring of the highest priority groups of Chernobyl disaster victims has been carried out since 1987. In 1992-1993, 125 liquidators (irradiated mainly in 1986) and 42 persons recovering from acute radiation sickness of the second and third degrees of severity were examined. Cytogenetic effects (an elevated level of unstable as well as stable markers of radiation exposure) were found in all groups, which showed a positive correlation with the initial degree of irradiation severity even 6-7 y after the accident. Comparative scoring of conventional staining vs. G-banding in 10 liquidators showed the identical rate of unstable aberrations. At the same time, the yield of stable aberrations for G-banded slides exceeded the frequency for conventional staining. In order to study possible mutagenic activity of chronic low levels of irradiation, the cytogenetic monitoring of some critical groups of the population (especially children and occupational groups-tractor drivers and foresters) living in areas of the Ukraine contaminated by radionuclides was carried out. In all the examined groups, a significant increase in the frequency of aberrant metaphases, chromosome aberrations (both unstable and stable), an chromatid aberrations was observed. Data gathered from groups of children reflect the intensity of mutagenic impact on the studied populations and demonstrate a positive correlation with the duration of exposure. Results of cytogenetic examination of adults confirmed the importance of considering the contribution of occupational radiation exposure to genetic effects of Chernobyl accident factors on the population of contaminated areas. 17 refs., 3 tabs.

  11. Inferring Diversity and Evolution in Fish by Means of Integrative Molecular Cytogenetics

    PubMed Central

    Artoni, Roberto Ferreira; Castro, Jonathan Pena; Jacobina, Uedson Pereira; Lima-Filho, Paulo Augusto; Félix da Costa, Gideão Wagner Werneck; Molina, Wagner Franco

    2015-01-01

    Fish constitute a paraphyletic and profusely diversified group that has historically puzzled ichthyologists. Hard efforts are necessary to better understand this group, due to its extensive diversity. New species are often identified and it leads to questions about their phylogenetic aspects. Cytogenetics is becoming an important biodiversity-detection tool also used to measure biodiversity evolutionary aspects. Molecular cytogenetics by fluorescence in situ hybridization (FISH) allowed integrating quantitative and qualitative data from DNA sequences and their physical location in chromosomes and genomes. Although there is no intention on presenting a broader review, the current study presents some evidences on the need of integrating molecular cytogenetic data to other evolutionary biology tools to more precisely infer cryptic species detection, population structuring in marine environments, intra- and interspecific karyoevolutionary aspects of freshwater groups, evolutionary dynamics of marine fish chromosomes, and the origin and differentiation of sexual and B chromosomes. The new cytogenetic field, called cytogenomics, is spreading due to its capacity to give resolute answers to countless questions that cannot be answered by traditional methodologies. Indeed, the association between chromosomal markers and DNA sequencing as well as between biological diversity analysis methodologies and phylogenetics triggers the will to search for answers about fish evolutionary, taxonomic, and structural features. PMID:26345638

  12. Autotetraploid Pacific oysters (Crassostrea gigas) obtained using normal diploid eggs: induction and impact on cytogenetic stability.

    PubMed

    Benabdelmouna, Abdellah; Ledu, Christophe

    2015-07-01

    We describe two methods of producing viable and fertile autotetraploid Pacific oyster (Crassostrea gigas Thunberg) based on the use of normal-sized oocytes produced by normal diploid females. Our methods showed that the oocyte size is not a limiting factor for the success of the induction to autotetraploidy. These methods offer means of direct introgression of genetic progress from elite diploid lines to tetraploids used as broodstock, avoiding a triploid step with the risk of transferring undesirable traits from highly fecund triploids. High variability in the level of cytogenetic stability was found among the different tetraploid oysters tested, showing that induction method has an important impact on the long-term cytogenetic stability of the tetraploids. It appears that induction method based on the use of triploid females induces a greater cytogenetic instability among tetraploids so obtained, and this compared to tetraploids originating from the two methods described in our present study. As the aneuploidies and reversions observed in tetraploids can have serious consequences for the sustainability of tetraploid broodstock itself, as well as their triploid offspring, the two tetraploid induction methods described in the present work offer means to produce tetraploids with optimal cytogenetic, genetic, and zootechnical performances. PMID:26230146

  13. Detection of recurrent cytogenetic aberrations in multiple myeloma: A comparison between MLPA and iFISH

    PubMed Central

    Yu, Zhen; Li, Fei; Yi, Shuhua; Ai, Xiaofei; Qin, Xiaoqi; Feng, Xiaoyan; Zhou, Wen; Xu, Yan; Li, Zengjun; Hao, Mu; Sui, Weiwei; Deng, Shuhui; Acharya, Chirag; Zhao, Yaozhong; Ru, Kun; Qiu, Lugui; An, Gang

    2015-01-01

    Multiple myeloma (MM) is a genetically heterogeneous disease with diverse clinical characteristics and outcomes. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for the detection of cytogenetic aberrations in MM patients. In the present study, MLPA analysis was applied to analyze cytogenetics of CD138 tumor cells of 59 MM samples, and its result was compared, retrospectively, with the interphase fluorescence in situ hybridization (iFISH) data. We firstly established the normal range of each of the 42 diagnostic probes using healthy donor samples. A total of 151 aberrations were detected in 59 patient samples, and 49/59 cases (83.1%) harbored at least one copy number variation. Overall, 0–7 aberrations were detected per case using MLPA, indicating the heterogeneity and complexity of MM cytogenetics. We showed the high efficiency of MLPA and the high congruency of the two methods to assess cytogenetic aberrations. Considering that MLPA analysis is not reliable when the aberration only exits in a small population of tumor cells, it is essential to use both MLPA and iFISH as complementary techniques for the diagnosis of MM. PMID:26416457

  14. Cytogenetic findings in a large bowel adenocarcinoma.

    PubMed

    Ferti-Passantonopoulou, A; Panani, A; Avgerinos, A; Raptis, S

    1986-04-15

    Cytogenetic analysis of a biopsy specimen taken during sigmoidoscopy from an adenocarcinoma of the large bowel revealed a hypodiploid karyotype with numerical and structural abnormalities identified as trisomy 7, t(3;12), t(1;17), interstitial deletion of the long arm of a chromosome #5 and loss of the Y chromosome with double X chromosomes. The possibility of this karyotype being a further evolutionary step in a subgroup of large bowel cancers and the clinical value of the above findings are discussed. PMID:3456826

  15. A comparative cytogenetic study of Drosophila parasitoids (Hymenoptera, Figitidae) using DNA-binding fluorochromes and FISH with 45S rDNA probe.

    PubMed

    Gokhman, Vladimir E; Bolsheva, Nadezhda L; Govind, Shubha; Muravenko, Olga V

    2016-06-01

    Karyotypes of Leptopilina boulardi (Barbotin, Carton et Keiner-Pillault, 1979) (n = 9), L. heterotoma (Thomson, 1862) (n = 10), L. victoriae Nordlander, 1980 (n = 10) and Ganaspis xanthopoda (Ashmead, 1896) (n = 9) (Hymenoptera, Figitidae) were studied using DNA-binding ligands with different base specificity [propidium iodide (PI), chromomycin A3 (CMA3) and 4',6-diamidino-2-phenylindole (DAPI)], and fluorescence in situ hybridization (FISH) with a 45S rDNA probe. Fluorochrome staining was similar between the different fluorochromes, except for a single CMA3- and PI-positive and DAPI-negative band per haploid karyotype of each species. FISH with 45S rDNA probe detected a single rDNA site in place of the bright CMA3-positive band, thus identifying the nucleolus organizing region (NOR). Chromosomal locations of NORs were similar for both L. heterotoma and L. victoriae, but strongly differed in L. boulardi as well as in G. xanthopoda. Phylogenetic aspects of NOR localization in all studied species are briefly discussed. PMID:27150102

  16. Comparative cytogenetic study on two species of the genus Entedon Dalman, 1820 (Hymenoptera, Eulophidae) using DNA-binding fluorochromes and molecular and immunofluorescent markers

    PubMed Central

    Bolsheva, Nadezhda L.; Gokhman, Vladimir E.; Muravenko, Olga V.; Gumovsky, Alex V.; Zelenin, Alexander V.

    2012-01-01

    Abstract Karyotypes of Entedon cionobius Thomson, 1878 and Entedon cioni Thomson, 1878 (Hymenoptera: Eulophidae) were studied using DNA-binding ligands with different base specificity (propidium iodide, chromomycin A3, methyl green and DAPI; all these ligands, except for the last one, were used for the first time in parasitic wasps), C-banding, fluorescence in situ hybridization (FISH) with a 45S rDNA probe and 5-methylcytosine immunodetection. Female karyotypes of both species contain five pairs of relatively large metacentric chromosomes and a pair of smaller acrocentric chromosomes (2n = 12). As in many other Hymenoptera, males of both Entedon Dalman, 1820 species have haploid chromosome sets (n = 6). Fluorochrome staining revealed chromosome-specific banding patterns that were similar between the different fluorochromes, except for the CMA3- and PI-positive and DAPI-negative band in the pericentromeric regions of the long arms of both acrocentric chromosomes. The obtained banding patterns were virtually identical in both species and allowed for the identification of each individual chromosome. C-banding revealed a pattern similar to DAPI staining, although centromeric and telomeric regions were stained more intensively using the former technique. FISH detected a single rDNA site in the same position on the acrocentric chromosomes as the bright CMA3-positive band. Immunodetection of 5-methylcytosine that was performed for the first time in the order Hymenoptera revealed 5-methylcytosine-rich sites in the telomeric, centromeric and certain interstitial regions of most of the chromosomes. PMID:24260653

  17. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

    PubMed

    Popp, Susanne; Schulze, Birgit; Granzow, Martin; Keller, Monika; Holtgreve-Grez, Heidi; Schoell, Brigitte; Brough, Michaela; Hager, Hans-Dieter; Tariverdian, Gholamali; Brown, Jill; Kearney, Lyndal; Jauch, Anna

    2002-07-01

    Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis. PMID:12136233

  18. Cytogenetic evaluation of chromosomal disorders in Down Syndrome

    SciTech Connect

    Shafik, H.M.

    1987-01-01

    Down Syndrome (DS) patients are at high risk to develop leukemia. They are also highly sensitive to the induction of chromosomal aberrations when their GO lymphocytes are irradiated in vitro. The objective of this study was to further investigate the differential radiosensitivity of DS lymphocytes at the different stages of the cell cycle, as damage to proliferating cells is more relevant to health problems than damage to non-dividing cells. In addition, the proliferation kinetics and stage of differentiation of circulating DS lymphocytes was studied in an attempt to understand the mechanism for the enhanced chromosomal radiosensitivity. Moreover, the x-ray induced specific chromosomal breakpoints were identified and correlated with the locations of oncogene and fragile sites in order to investigate cytogenetically the early stages of leukemogenesis.

  19. Cytogenetics of human brain tumors

    SciTech Connect

    Finkernagel, S.W.; Kletz, T.; Day-Salvatore, D.L.

    1994-09-01

    Chromosome studies of 55 brain tumors, including meningiomas, gliomas, astrocyomas and pituatary adenomas, were performed. Primary and first passage cultures were successfully obtained in 75% of these samples with an average of 18 G-banded metaphases analyzed per tumor. 44% of all the brain tumors showed numerical and or structural abnormalities. 46% of the primary and 38% of the first passage cultures showed similar numerical gains/losses and complex karyotypic changes. The most frequent numerical abnormalities (n {ge} 5) included loss of chromosomes 10, 22, and Y. The structural abnormalities most often seen involved 1p, 2, 5, 7, 17q and 19. This is an ongoing study which will attempt to correlate tumor type with specific karyotypic changes and to see if any of the observed chromosomal abnormalities provide prognostic indicators.

  20. Combined Use of Cytogenetic and Molecular Methods in Prenatal Diagnostics of Chromosomal Abnormalities

    PubMed Central

    Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Mehinovic, Lejla; Konjhodzic, Rijad

    2015-01-01

    Aim: The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use of such methods is not informative enough, one or more molecular cytogenetic methods can be used for further clarification. Combined use of the mentioned methods improves the quality of the final findings in the diagnostics of chromosomal abnormalities, with classical cytogenetic methods still occupying the central spot. Material and methods: Conducted research represent retrospective-prospective study of a four year period, from 2008 through 2011. In the period stated, 1319 karyotyping from amniotic fluid were conducted, along with 146 FISH analysis. Results: Karyotyping had detected 20 numerical and 18 structural aberrations in that period. Most common observed numerical aberration were Down syndrome (75%), Klinefelter syndrome (10%), Edwards syndrome, double Y syndrome and triploidy (5% each). Within observed structural aberrations more common were balanced chromosomal aberrations then non balanced ones. Most common balanced structural aberrations were as follows: reciprocal translocations (60%), Robertson translocations (13.3%), chromosomal inversions, duplications and balanced de novo chromosomal rearrangements (6.6% each). Conclusion: With non- balanced aberrations observed in the samples of amniotic fluid, non- balanced translocations, deletions and derived chromosomes were equally represented. Number of detected aneuploidies with FISH, prior to obtaining results with karyotyping, were 6. PMID:26005269

  1. Molecular cytogenetics using fluorescence in situ hybridization

    SciTech Connect

    Gray, J.W.; Kuo, Wen-Lin; Lucas, J.; Pinkel, D.; Weier, H-U.; Yu, Loh-Chung.

    1990-12-07

    Fluorescence in situ hybridization (FISH) with chromosome-specific probes enables several new areas of cytogenetic investigation by allowing visual determination of the presence and normality of specific genetic sequences in single metaphase or interphase cells. in this approach, termed molecular cytogenetics, the genetic loci to be analyzed are made microscopically visible in single cells using in situ hybridization with nucleic acid probes specific to these loci. To accomplish this, the DNA in the target cells is made single stranded by thermal denaturation and incubated with single-stranded, chemically modified probe under conditions where the probe will anneal only with DNA sequences to which it has high DNA sequence homology. The bound probe is then made visible by treatment with a fluorescent reagent such as fluorescein that binds to the chemical modification carried by the probe. The DNA to which the probe does not bind is made visible by staining with a dye such as propidium iodide that fluoresces at a wavelength different from that of the reagent used for probe visualization. We show in this report that probes are now available that make this technique useful for biological dosimetry, prenatal diagnosis and cancer biology. 31 refs., 3 figs.

  2. Cytogenetic studies of blood, experiment M111

    NASA Technical Reports Server (NTRS)

    Lockhart, L. H.

    1977-01-01

    Analysis of the chromosome patterns of Skylab crewmen preflight and postflight recorded two types of defects: minor structural defects including chromatid breaks, chromosome breaks, deletions, and fragments were not significantly increased; structural rearrangements including dicentrics, exchange figures, inversions, and translocations occured more frequently. Data indicate that the flight itself in Skylab missions was not a contributing factor to these abberrations.

  3. In Vivo Cytogenetic Studies on Aspartame

    PubMed Central

    AlSuhaibani, Entissar S.

    2010-01-01

    Aspartame (a-Laspartyl-L-phenylalanine 1-methylester) is a dipeptide low-calorie artificial sweetener that is widely used as a nonnutritive sweetener in foods and drinks. The safety of aspartame and its metabolic breakdown products (phenylalanine, aspartic acid and methanol) was investigated in vivo using chromosomal aberration (CA) test and sister chromatid exchange (SCE) test in the bone marrow cells of mice. Swiss Albino male mice were exposed to aspartame (3.5, 35, 350 mg/kg body weight). Bone marrow cells isolated from femora were analyzed for chromosome aberrations and sister chromatid exchanges. Treatment with aspartame induced dose dependently chromosome aberrations at all concentrations while it did not induce sister chromatid exchanges. On the other hand, aspartame did not decrease the mitotic index (MI). However, statistical analysis of the results show that aspartame is not significantly genotoxic at low concentration. PMID:20689731

  4. Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization.

    PubMed

    Althof, Pamela A; Ohmori, Kazuo; Zhou, Ming; Bailey, Jacqueline M; Bridge, R Stuart; Nelson, Marilu; Neff, James R; Bridge, Julia A

    2004-05-01

    Aneurysmal bone cyst is a benign, cystic lesion of bone composed of blood-filled spaces separated by fibrous septa. Relatively few cases of aneurysmal bone cyst have been cytogenetically characterized, yet abnormalities of the short arm of chromosome 17 appear to be recurrent. In this study, conventional cytogenetic analysis of 43 aneurysmal bone cyst specimens from 38 patients over a 12-year period revealed clonal chromosomal abnormalities in 12 specimens. Karyotypic anomalies of 17p, including a complex translocation and inversion, were identified in eight of these 12 specimens. In an effort to further define the aberrant 17p breakpoint, fluorescence in situ hybridization (FISH) analyses were performed using a series of probe combinations spanning a 5.1 Mb region between the TP53 (17p13.1) and Miller-Dieker lissencephaly syndrome (17p13.3) gene loci. These studies revealed the critical breakpoint locus at 17p13.2, flanked proximally by an RP11-46I8, RP11-333E1, and RP11-457I18 bacterial artificial chromosome (BAC) probe cocktail and distally by an RP11-198F11 and RP11-115H24 BAC and RP5-1050D4 P1 artificial chromosome (PAC) probe cocktail. Overall, abnormalities of the 17p13.2 locus were identified by metaphase and/or interphase cell FISH analysis in 22 of 35 (63%) aneurysmal bone cyst specimens examined including 26 karyotypically normal specimens. These cytogenetic and molecular cytogenetic findings expand our knowledge of chromosomal alterations in aneurysmal bone cyst, further localize the critically involved 17p breakpoint, and provide an alternative approach (ie FISH) for detecting 17p abnormalities in nondividing cells of aneurysmal bone cysts. The latter could potentially be utilized as an adjunct in diagnostically challenging cases. PMID:15044915

  5. Molecular Cytogenetic Analysis of Deschampsia antarctica Desv. (Poaceae), Maritime Antarctic.

    PubMed

    Amosova, Alexandra V; Bolsheva, Nadezhda L; Samatadze, Tatiana E; Twardovska, Maryana O; Zoshchuk, Svyatoslav A; Andreev, Igor O; Badaeva, Ekaterina D; Kunakh, Viktor A; Muravenko, Olga V

    2015-01-01

    Deschampsia antarctica Desv. (Poaceae) (2n = 26) is one of the two vascular plants adapted to the harshest environment of the Antarctic. Although the species is a valuable model for study of environmental stress tolerance in plants, its karyotype is still poorly investigated. We firstly conducted a comprehensive molecular cytogenetic analysis of D. antarctica collected on four islands of the Maritime Antarctic. D. antarctica karyotypes were studied by Giemsa C- and DAPI/C-banding, Ag-NOR staining, multicolour fluorescence in situ hybridization with repeated DNA probes (pTa71, pTa794, telomere repeats, pSc119.2, pAs1) and the GAA simple sequence repeat probe. We also performed sequential rapid in situ hybridization with genomic DNA of D. caespitosa. Two chromosome pairs bearing transcriptionally active 45S rDNA loci and five pairs with 5S rDNA sites were detected. A weak intercalary site of telomere repeats was revealed on the largest chromosome in addition to telomere hybridization signals at terminal positions. This fact confirms indirectly the hypothesis that chromosome fusion might have been the cause of the unusual for cereals chromosome number in this species. Based on patterns of distribution of the examined molecular cytogenetic markers, all chromosomes in karyotypes were identified, and chromosome idiograms of D. antarctica were constructed. B chromosomes were found in most karyotypes of plants from Darboux Island. A mixoploid plant with mainly triploid cells bearing a Robertsonian rearrangement was detected among typical diploid specimens from Great Jalour Island. The karyotype variability found in D. antarctica is probably an expression of genome instability induced by environmental stress factors. The differences in C-banding patterns and in chromosome distribution of rDNA loci as well as homologous highly repeated DNA sequences detected between genomes of D. antarctica and its related species D. caespitosa indicate that genome reorganization involving

  6. Molecular Cytogenetic Analysis of Deschampsia antarctica Desv. (Poaceae), Maritime Antarctic

    PubMed Central

    Amosova, Alexandra V.; Bolsheva, Nadezhda L.; Samatadze, Tatiana E.; Twardovska, Maryana O.; Zoshchuk, Svyatoslav A.; Andreev, Igor O.; Badaeva, Ekaterina D.; Kunakh, Viktor A.; Muravenko, Olga V.

    2015-01-01

    Deschampsia antarctica Desv. (Poaceae) (2n = 26) is one of the two vascular plants adapted to the harshest environment of the Antarctic. Although the species is a valuable model for study of environmental stress tolerance in plants, its karyotype is still poorly investigated. We firstly conducted a comprehensive molecular cytogenetic analysis of D. antarctica collected on four islands of the Maritime Antarctic. D. antarctica karyotypes were studied by Giemsa C- and DAPI/C-banding, Ag-NOR staining, multicolour fluorescence in situ hybridization with repeated DNA probes (pTa71, pTa794, telomere repeats, pSc119.2, pAs1) and the GAA simple sequence repeat probe. We also performed sequential rapid in situ hybridization with genomic DNA of D. caespitosa. Two chromosome pairs bearing transcriptionally active 45S rDNA loci and five pairs with 5S rDNA sites were detected. A weak intercalary site of telomere repeats was revealed on the largest chromosome in addition to telomere hybridization signals at terminal positions. This fact confirms indirectly the hypothesis that chromosome fusion might have been the cause of the unusual for cereals chromosome number in this species. Based on patterns of distribution of the examined molecular cytogenetic markers, all chromosomes in karyotypes were identified, and chromosome idiograms of D. antarctica were constructed. B chromosomes were found in most karyotypes of plants from Darboux Island. A mixoploid plant with mainly triploid cells bearing a Robertsonian rearrangement was detected among typical diploid specimens from Great Jalour Island. The karyotype variability found in D. antarctica is probably an expression of genome instability induced by environmental stress factors. The differences in C-banding patterns and in chromosome distribution of rDNA loci as well as homologous highly repeated DNA sequences detected between genomes of D. antarctica and its related species D. caespitosa indicate that genome reorganization involving

  7. Nonrandom chromosomal aberrations and cytogenetic heterogeneity in gallbladder carcinomas.

    PubMed

    Gorunova, L; Parada, L A; Limon, J; Jin, Y; Hallén, M; Hägerstrand, I; Iliszko, M; Wajda, Z; Johansson, B

    1999-12-01

    Chromosome banding analysis of 11 short-term cultured gallbladder carcinomas revealed acquired clonal aberrations in seven tumors (five primary and two metastases). Three of these had one clone, whereas the remaining four were cytogenetically heterogeneous, displaying two to seven aberrant clones. Of a total of 21 abnormal clones, 18 had highly complex karyotypes and three exhibited simple numerical deviations. Double minutes and homogeneously staining regions were observed in one and two carcinomas, respectively. To characterize the karyotypic profile of gallbladder cancer more precisely, we have combined the present findings with our three previously reported cases, thereby providing the largest cytogenetic database on this tumor type to date. A total of 287 chromosomal breakpoints were identified, 251 of which were found in the present study. Chromosome 7 was rearranged most frequently, followed by chromosomes 1, 3, 11, 6, 5, and 8. The bands preferentially involved were 1p32, 1p36, 1q32, 3p21, 6p21, 7p13, 7q11, 7q32, 19p13, 19q13, and 22q13. Nine recurrent abnormalities could, for the first time, be identified in gallbladder carcinoma: del(3)(p13), i(5)(p10), del(6)(q13), del(9)(p13), del(16)(q22), del(17)(p11), i(17)(q10), del(19)(p13), and i(21)(q10). The most common partial or whole-arm gains involved 3q, 5p, 7p, 7q, 8q, 11q, 13q, and 17q, and the most frequent partial or whole-arm losses affected 3p, 4q, 5q, 9p, 10p, 10q, 11p, 14p, 14q, 15p, 17p, 19p, 21p, 21q, and Xp. These chromosomal aberrations and imbalances provide some starting points for molecular analyses of genomic regions that may harbor genes of pathogenetic importance in gallbladder carcinogenesis. Genes Chromosomes Cancer 26:312-321, 1999. PMID:10534766

  8. Cytogenetic biodosimetry using the blood lymphocytes of astronauts

    NASA Astrophysics Data System (ADS)

    George, Kerry A.; Rhone, Jordan; Chappell, Lori J.; Cucinotta, Francis A.

    2013-11-01

    Cytogenetic analysis of peripheral blood lymphocytes is the most sensitive and reliable method currently available for in vivo assessment of the biological effects of exposure to radiation and provides the most informative measurement of radiation induced health risks. Data indicates that space missions of a few months or more can induce measureable increases in the yield of chromosome damage in the blood lymphocytes of astronauts that can be used to estimate an organ dose equivalent, and biodosimetry estimates lie within the range expected from physical dosimetry. Space biodosimetry poses some unique challenges compared to terrestrial biological assessments of radiation exposures, but data provides a direct measurement of space radiation damage, which takes into account individual radiosensitivity in the presence of confounding factors such as microgravity and other stress conditions. Moreover if chromosome damage persists in the blood for many years, results can be used for retrospective dose reconstruction. In contrast to physical measurements, which are external to body and require multiple devices to detect all radiation types all of which have poor sensitivity to neutrons, biodosimetry is internal and includes the effects of shielding provided by the body itself plus chromosome damage shows excellent sensitivity to protons, heavy ions, and neutrons. In addition, chromosome damage is reflective of cancer risk and biodosimetry values can therefore be used to validate and develop risk assessment models that can be used to characterize health risk incurred by crewmembers. The current paper presents a review of astronaut biodosimetry data, along with recently derived data on the relative cancer risk estimated using the quantitative approach derived from the European Study Group on Cytogenetic Biomarkers and Health database.

  9. Increasing role of cytogenetics in pediatric practice.

    PubMed

    Dayakar, Seetha; Rani, Didala Swaroopa; Babu, Sidam Jangu; Srilatha, Komanduri; Jayanthi, Undamatla; Goud, Kalal Iravathy; Jain, Dharmendra; Raina, Vimarsh

    2010-04-01

    Karyotyping was done in 100 children suspected of having chromosomal abnormalities of genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation, and Down syndrome. A total of 56 patients had an abnormal karyotype: ring chromosome of 13 was seen in 1 patient (1.78%), and trisomy 21 was seen in 29 patients (51.78%) who were diagnosed as Down syndrome patients. Among them, 9 were male patients (31.03%) (47,XY+21) and 18 were female patients (47,XX+21) (62.06%); 2 patients showed 47,XY+21/46,XY (mosaicism) (6.89%). Chromosomal rearrangements involving chromosome numbers 13, 14, and 21 were seen in three patients. Among them, one patient had t(13;21) [45,XX,t(13;21)] and two patients had 45,XY,t(14;21). Trisomy 22 was seen in three patients (5.3%), marker chromosome was seen in two patients (3.57%), 46,XY,16qh variant was seen in one patient (1.78%), 46,XX,der(2) was seen in one patient (1.78%), 46,XX,14ps+ was seen in two patients (3.57%), and 46,XY,r(18) was seen in three patients (5.37%). Apart from this, 11 patients (19.64%) had sex chromosome aberrations: 45,XO was seen in 3 patients (27.7%), 4 patients were mosaic for Turner syndrome (45,XO/46,XX) (36.36%), and 4 patients had 46,Xi(Xp) (36.36%), and the remaining 44 patients had normal karyotypes. All of them showed phenotypic-cytogenetic heterogeneity. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counseling. PMID:20384456

  10. Mosaic Turner syndrome: cytogenetics versus FISH.

    PubMed

    Abulhasan, S J; Tayel, S M; al-Awadi, S A

    1999-05-01

    Twenty-two cases with Turner syndrome features were subjected to standard cytogenetic techniques using giemsa trypsin (GTG-) banding then fluorescence in situ hybridization (FISH) using a specific whole-X chromosome painting probe, Quint-Essential Y-specific DNA probe (AMELY) for Yp11.2, alpha-satellite (DYZ3) probe and X/Y cocktail-alpha satellite probe (ONCOR) for confirmation of the initial diagnosis and comparison of the two techniques. Eight cases (36%) showed the same karyotype results by both techniques [5 cases: 45,X/46,XX, 2 cases: 45,X/46,X,i(Xq) and one case with a triple cell line 45,X/46,XX/47,XXX]. In the other 14 cases (64%) the FISH technique has identified a third cell line in 7 cases (32%), delineated the origin of the marker in 5 cases (23%) to be derivative X and clarified the deletion of the Yp11.2 region in 2 cases (9%) with the 45,X/46,XY karyotype. The application of FISH has highlighted the differences between the initial diagnosis based on the standard cytogenetic technique and the final diagnosis determined by the application of DNA probes specific for the X and Y chromosomes. FISH proved useful in detection of the low frequency cell lines which need analysis of a large number of metaphase spreads by GTG-banding, helped in identifying the nature and the origin of the unknown markers which has an important implication in the development of gonadal tumours and delineated the deletion of the Yp11.2 region in the 45,X/46,XY Turner patients. PMID:10738532

  11. Analytical cytology applied to detection of induced cytogenetic abnormalities

    SciTech Connect

    Gray, J.W.; Lucas, J.; Straume, T.; Pinkel, D.

    1987-08-06

    Radiation-induced biological damage results in formation of a broad spectrum of cytogenetic changes such as translocations, dicentrics, ring chromosomes, and acentric fragments. A battery of analytical cytologic techniques are now emerging that promise to significantly improve the precision and ease with which these radiation induced cytogenetic changes can be quantified. This report summarizes techniques to facilitate analysis of the frequency of occurrence of structural and numerical aberrations in control and irradiated human cells. 14 refs., 2 figs.

  12. An opportune life: 50 years in human cytogenetics.

    PubMed

    Jacobs, Patricia A

    2014-01-01

    This article is one person's view of human cytogenetics over the past 50 years. The flowering of human cytogenetics led the way to the establishment of clinical genetics as one of the most important developments in medicine in the twentieth century. The article is written from the viewpoint of a scientist who never tired of analyzing the images of dividing cells on the light microscope and interpreting the wealth of information contained in them. PMID:25184528

  13. Cytogenetic effects of alachlor and/or atrazine in vivo and in vitro

    SciTech Connect

    Meisner, L.F.; Roloff, B.D. ); Belluck, D.A. )

    1992-01-01

    The purpose of this study was to assess the cytogenetic effects of two commonly used herbicides, alachlor and atrazine, which are often found together in groundwater. Chromosome damage was examined in bone marrow cells of mice drinking water containing 20 ppm alachlor and/or 20 ppm atrazine, with an immunosuppressive dose of cyclophosphamide used as a positive control. Chromosome damage was also quantified in human lymphocytes. The in vitro study demonstrated dose related cytogenetic damage not associated with mitotic inhibition or cell death, with damage due to the alachlor-atrazine combination suggesting an additive model. The fact that the elevated mitotic index was associated with immune suppresion in the cyclophosphamide group suggests that death of cells with accumulated chromosomal aberrations resulted in increased bone marrow proliferation, so a higher fraction of cells examined were newer with less damage.

  14. Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association

    PubMed Central

    Kumar, Jeevan M.; Gowrishankar, Kalpana; Vasanthi, T.; Kumar, R. Ashok; Jayasudha, T.

    2011-01-01

    Isochromosome is a structurally unbalanced chromosome consisting of two short arms or two long arms, which are derived by abnormal centromere division or sister-chromatid exchange. Most autosomal isochromosomes are unusual, while those involving sex chromosomes are common. Kabuki syndrome (KS, OMIM 147920) is a multiple malformation/mental retardation syndrome of unknown etiology. A conventional cytogenetic study on lymphocytes from a 4-year-old girl with physical features suggestive of KS was found to have mosaicism for isochromosome for the long arm of the X. Although most manifestations present in this patient have been described before, this report is a rare association of clinical and cytogenetic findings in this syndrome. A genome-wide analysis and a larger number of patient groups studied could improve our understanding of the genetic basis of KS. PMID:22346002

  15. Development and application of camelid molecular cytogenetic tools.

    PubMed

    Avila, Felipe; Das, Pranab J; Kutzler, Michelle; Owens, Elaine; Perelman, Polina; Rubes, Jiri; Hornak, Miroslav; Johnson, Warren E; Raudsepp, Terje

    2014-01-01

    Cytogenetic chromosome maps offer molecular tools for genome analysis and clinical cytogenetics and are of particular importance for species with difficult karyotypes, such as camelids (2n = 74). Building on the available human-camel zoo-fluorescence in situ hybridization (FISH) data, we developed the first cytogenetic map for the alpaca (Lama pacos, LPA) genome by isolating and identifying 151 alpaca bacterial artificial chromosome (BAC) clones corresponding to 44 specific genes. The genes were mapped by FISH to 31 alpaca autosomes and the sex chromosomes; 11 chromosomes had 2 markers, which were ordered by dual-color FISH. The STS gene mapped to Xpter/Ypter, demarcating the pseudoautosomal region, whereas no markers were assigned to chromosomes 14, 21, 22, 28, and 36. The chromosome-specific markers were applied in clinical cytogenetics to identify LPA20, the major histocompatibility complex (MHC)-carrying chromosome, as a part of an autosomal translocation in a sterile male llama (Lama glama, LGL; 2n = 73,XY). FISH with LPAX BACs and LPA36 paints, as well as comparative genomic hybridization, were also used to investigate the origin of the minute chromosome, an abnormally small LPA36 in infertile female alpacas. This collection of cytogenetically mapped markers represents a new tool for camelid clinical cytogenetics and has applications for the improvement of the alpaca genome map and sequence assembly. PMID:23109720

  16. Comparative cytogenetics among populations of Astyanax altiparanae (Characiformes, Characidae, Incertae sedis).

    PubMed

    Ferreira, Maressa; Vicari, Marcelo Ricardo; de Camargo, Edemar Furquim; Artoni, Roberto Ferreira; Moreira-Filho, Orlando

    2009-10-01

    Cytogenetic data are presented for Astyanax altiparanae populations from three Brazilian hydrographic systems. The chromosomal data obtained in A. altiparanae support the hypothesis of diploid number conservation. However, small differences in the karyotype formula and number of nucleolar organizer regions were observed in these populations. The apparent karyotypical similarity among the studied populations strongly suggests a close relationship among them with some chromosomal divergences due to gene flow restriction. PMID:21637456

  17. Prognostic impact of cytogenetic abnormalities in children and adolescents with mature B-cell non-Hodgkin lymphoma: A report from the Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG).

    PubMed

    Sekimizu, Masahiro; Mori, Tetsuya; Kikuchi, Akira; Mitsui, Tetsuo; Sunami, Shosuke; Kobayashi, Ryoji; Fujita, Naoto; Inada, Hiroko; Takimoto, Tetsuya; Saito, Akiko Moriya; Watanabe, Tomoyuki; Fujimoto, Junichiro; Nakazawa, Atsuko; Ohshima, Koichi; Horibe, Keizo; Tsurusawa, Masahito

    2015-07-01

    Little information is available on cytogenetic abnormalities and their prognostic importance in childhood mature B-cell non-Hodgkin lymphoma (B-NHL). We performed a review of 79 abnormal karyotypes in childhood B-NHL treated by a uniform protocol. Del(17p) was independently associated with significantly inferior event-free survival in Burkitt or Burkitt-like lymphoma. The adverse prognosis of MYC/8q24 rearrangement, +7q or del(13q), was not observed, which had been suggested as risk factors in FAB/LMB96. Our results imply the possible existence of a biological difference among ethnicities and should be useful to narrow down the gene causing poor prognosis in childhood B-NHL. PMID:25790170

  18. Cytogenetic Status of Meloidogyne (Hypsoperine) spartinae in Relation to Other Meloidogyne Species.

    PubMed

    Triantaphyllou, A C

    1987-01-01

    Four populations of Meloidogyne spartinae from the coast of North and South Carolina were identical cytogenetically. Fourteen rod-shaped chromosomes were present in oogonia and spermatogonia, whereas seven bivalents were observed in oocytes and spermatocytes. There were no distinguishable sex chromosomes. Chromosome behavior was similar to that of other Meloidogyne species. A slight deviation in morphology of prometaphase bivalents was attributed to an increase in frequency of chiasmata that may be associated with the obligatorily amphimictic reproduction of this nematode. The anatomy of the oviduct-spermatotheca region and most cytogenetic features studied suggested that M. spartinae can be regarded as a root-knot nematode. Its position in the genus Meloidogyne or Hypsoperine can be decided by taxonomists. Its small chromosome number (n = 7) compared to the larger number (n = 13-19) of other Meloidogyne species suggests that, cytologically, M. spartinae stands closer to the ancestral form from which the prescent day root-knot nematodes have evolved. PMID:19290099

  19. Cytogenetics of the Brazilian Bolitoglossa paraensis (Unterstein, 1930) salamanders (Caudata, Plethodontidae)

    PubMed Central

    da Silva, Jéssica Barata; Suárez, Pablo; Nagamachi, Cleusa Yoshiko; Carter, Timothy Frederick; Pieczarka, Julio Cesar

    2014-01-01

    Plethodontid salamanders of genus Bolitoglossa constitute the largest and most diverse group of salamanders, including around 20% of living caudate species. Recent studies have indicated the occurrence of five recognized species in the Brazilian Amazon Rainforest. We present here the first cytogenetic data of a Brazilian salamander, which may prove to be a useful by contribution to the cytotaxonomy of the genus. Specimens were collected near the “type” locality (Utinga, Belém, PA, Brazil). Chromosomal preparations from duodenal epithelial cells and testes were subjected to Giemsa staining, C-banding and DAPI/CMA3 fluorochrome staining. All specimens showed a karyotype with 13 bi-armed chromosome pairs (2n = 26). Nucleolar Organizer Regions, evidenced by CMA3, were located distally on the long arm of pair 7 (7q). DAPI+ heterochromatin was predominantly centromeric, with some small pericentromeric bands. Although the C-banding patterns of other Bolitoglossa species are so far unknown, cytogenetic studies conducted in other Plethodontid salamanders have demonstrated that pericentromeric heterochromatin is a useful cytological marker for identifying interspecific homeologies. Species diversification is usually accompanied by chromosomal changes. Therefore, the cytogenetic characterization of Bolitoglossa populations from the middle and western Brazilian Amazon Basin could identify differences which may lead to the identification of new species. PMID:25249775

  20. Cytogenetics of the Brazilian Bolitoglossa paraensis (Unterstein, 1930) salamanders (Caudata, Plethodontidae).

    PubMed

    da Silva, Jéssica Barata; Suárez, Pablo; Nagamachi, Cleusa Yoshiko; Carter, Timothy Frederick; Pieczarka, Julio Cesar

    2014-09-01

    Plethodontid salamanders of genus Bolitoglossa constitute the largest and most diverse group of salamanders, including around 20% of living caudate species. Recent studies have indicated the occurrence of five recognized species in the Brazilian Amazon Rainforest. We present here the first cytogenetic data of a Brazilian salamander, which may prove to be a useful by contribution to the cytotaxonomy of the genus. Specimens were collected near the "type" locality (Utinga, Belém, PA, Brazil). Chromosomal preparations from duodenal epithelial cells and testes were subjected to Giemsa staining, C-banding and DAPI/CMA3 fluorochrome staining. All specimens showed a karyotype with 13 bi-armed chromosome pairs (2n = 26). Nucleolar Organizer Regions, evidenced by CMA3, were located distally on the long arm of pair 7 (7q). DAPI+ heterochromatin was predominantly centromeric, with some small pericentromeric bands. Although the C-banding patterns of other Bolitoglossa species are so far unknown, cytogenetic studies conducted in other Plethodontid salamanders have demonstrated that pericentromeric heterochromatin is a useful cytological marker for identifying interspecific homeologies. Species diversification is usually accompanied by chromosomal changes. Therefore, the cytogenetic characterization of Bolitoglossa populations from the middle and western Brazilian Amazon Basin could identify differences which may lead to the identification of new species. PMID:25249775

  1. Molecular cytogenetic characterization of cancer cell alterations.

    PubMed

    Popescu, N C; Zimonjic, D B

    1997-01-01

    Chromosomal abnormalities are the hallmark of cancer cells. Recurring and highly consistent structural and numerical alterations have been identified in a large number of leukemias, lymphomas, and solid tumors. The identification of recurrent genetic alterations and the isolation of molecular markers have clinical applications in the diagnosis and prognosis of neoplasia and in the detection of minimal residual disease that are essential for designing the most effective therapeutic approach. Polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) are powerful techniques for detection of genomic alterations. The battery of FISH methods and DNA probes that are available can resolve virtually any chromosomal alterations regardless of their complexity. Combined chromosome banding, multifluor or spectral karyotype, and comparative genomic hybridization (CGH) allow identification of structural and numerical alterations on a global basis, mapping of the DNA copy number on the entire tumor genome, complete derivation of complex rearrangements, and localization of the breakpoints of translocations and deletions. Regions of recurrent alterations can be microdisected, amplified, microclone libraries constructed and probes localized on extended chromosomes or chromatin fibers for construction of high resolution physical maps that are critical for positional cloning and gene identification. In this review we attempted to cover the current trends in cancer molecular cytogenetics, and to outline the importance of molecular chromosome analysis in the understanding of oncogenesis and its clinical applications. PMID:9062575

  2. Molecular Cytogenetic Mapping of Satellite DNA Sequences in Aegilops geniculata and Wheat.

    PubMed

    Koo, Dal-Hoe; Tiwari, Vijay K; Hřibová, Eva; Doležel, Jaroslav; Friebe, Bernd; Gill, Bikram S

    2016-01-01

    Fluorescence in situ hybridization (FISH) provides an efficient system for cytogenetic analysis of wild relatives of wheat for individual chromosome identification, elucidation of homoeologous relationships, and for monitoring alien gene transfers into wheat. This study is aimed at developing cytogenetic markers for chromosome identification of wheat and Aegilops geniculata (2n = 4x = 28, UgUgMgMg) using satellite DNAs obtained from flow-sorted chromosome 5Mg. FISH was performed to localize the satellite DNAs on chromosomes of wheat and selected Aegilops species. The FISH signals for satellite DNAs on chromosome 5Mg were generally associated with constitutive heterochromatin regions corresponding to C-band-positive chromatin including telomeric, pericentromeric, centromeric, and interstitial regions of all the 14 chromosome pairs of Ae. geniculata. Most satellite DNAs also generated FISH signals on wheat chromosomes and provided diagnostic chromosome arm-specific cytogenetic markers that significantly improved chromosome identification in wheat. The newly identified satellite DNA CL36 produced localized Mg genome chromosome-specific FISH signals in Ae. geniculata and in the M genome of the putative diploid donor species Ae. comosa subsp. subventricosa but not in Ae. comosa subsp. comosa, suggesting that the Mg genome of Ae. geniculata was probably derived from subsp. subventricosa. PMID:27403741

  3. Molecular cytogenetic analyses of Epinephelus bruneus and Epinephelus moara (Perciformes, Epinephelidae).

    PubMed

    Guo, Minglan; Wang, Shifeng; Su, Yongquan; Zhou, Yongcan; Liu, Min; Wang, Jun

    2014-01-01

    Genus Epinephelus (Perciformes, Epinephelidae), commonly known as groupers, are usually difficult in species identification for the lack and/or change of morphological specialization. In this study, molecular cytogenetic analyses were firstly performed to identify the closely related species Epinephelus bruneus and E. moara in this genus. The species-specific differences of both fish species showed in karyotype, chromosomal distribution of nucleolar organizer regions (NORs) and localization of 18S rDNA. The heterochromatin (interstitial C-bands) and distribution pattern of telomere (TTAGGG) n in E. bruneus revealed the chromosomal rearrangements and different karyotypic evolutionary characteristics compared to those in E. moara. The cytogenetic data suggested that the lineages of E. bruneus and E. moara were recently derived within the genus Epinephelus, and E. moara exhibited more plesiomorphic features than E. bruneus. All results confirmed that E. moara, which has long been considered a synonym of E. bruneus, is a distinct species in the family Epinephelidae. In addition, molecular cytogenetic analyses are useful in species differentiation and phylogenetic reconstruction in groupers. PMID:24949234

  4. Cytogenetics of Triticum x Dasypyrum hybrids and derived lines.

    PubMed

    Minelli, S; Ceccarelli, M; Mariani, M; De Pace, C; Cionini, P G

    2005-01-01

    Genomic in situ hybridization was used to study Triticum x Dasypyrum wide hybrids and derived lines. A cytogenetic investigation was carried out in progenies of (i) amphiploids derived from T. turgidum var. durum (T. durum; 2n = 14; genomes AABB) x D. villosum (2n = 14; genome VV), (ii) three-parental hybrids (T. durum x D. villosum) x T. aestivum (2n = 42, genomes A'A'B'B'D'D'), and (iii) T. aestivum aneuploid lines carrying D. villosum chromosomes or chromatin. The amphiploids derived from T. durum x D. villosum showed a stable chromosomal constitution, made up of 14 V chromosomes, 14 chromosomes carrying the wheat A genome and 14 chromosomes carrying the B genome. High karyological instability was observed in the progenies of three-parental hybrids ([T. durum x D. villosum] x T. aestivum). Plants having the expected 14 A chromosomes, 14 B chromosomes, 7 D chromosomes, and 7 V chromosomes were rather rare (4.5%). Many progeny plants (45.5%) had the hexaploid wheat genome with 42 chromosomes and lacked any detectable D. villosum chromatin. Other plants (50%) had 14 A chromosomes and 14 B chromosomes, plus variable numbers of D and V chromosomes, the former being better retained than the latter in most cases. Some T. aestivum lines carrying D. villosum chromosomes or chromatin, as the result of addition, substitution, or recombination events or even a combination of these karyological events, were found to be stable. Other lines were unstable, and these lines carried 1V, 3V, or 5V chromosomes or their portions. Substitution or recombination events where 1V chromosomes were involved could concern the homeologous counterparts in both the A and B and D genomes of wheat. No line could be recovered where the shorter arm of 3V chromosomes was present. Changes in the morphology and banding pattern of V chromosomes were observed in hybrids that did not carry the entire D. villosum complement. By comparing the results of our cytogenetic analyses with certain phenotypic

  5. Molecular cytogenetic characterization of a human thyroid cancercell line

    SciTech Connect

    Weier, Heinz-Ulrich G.; Tuton, Tiffany B.; Ito, Yuko; Chu, LisaW.; Lu, Chung-Mei; Baumgartner, Adolf; Zitzelsberger, Horst F.; Weier,Jingly F.

    2006-01-04

    The incidence of papillary thyroid carcinoma (PTC) increases significantly after exposure of the head and neck region to ionizing radiation, yet we know neither the steps involved in malignant transformation of thyroid epithelium nor the specific carcinogenic mode of action of radiation. Such increased tumor frequency became most evident in children after the 1986 nuclear accident in Chernobyl, Ukraine. In the twelve years following the accident, the average incidence of childhood PTCs (chPTC) increased over one hundred-fold compared to the rate of about 1 tumor incidence per 10{sup 6} children per year prior to 1986. To study the etiology of radiation-induced thyroid cancer, we formed an international consortium to investigate chromosomal changes and altered gene expression in cases of post-Chernobyl chPTC. Our approach is based on karyotyping of primary cultures established from chPTC specimens, establishment of cell lines and studies of genotype-phenotype relationships through high resolution chromosome analysis, DNA/cDNA micro-array studies, and mouse xenografts that test for tumorigenicity. Here, we report the application of fluorescence in situ hybridization (FISH)-based techniques for the molecular cytogenetic characterization of a highly tumorigenic chPTC cell line, S48TK, and its subclones. Using chromosome 9 rearrangements as an example, we describe a new approach termed ''BAC-FISH'' to rapidly delineate chromosomal breakpoints, an important step towards a better understanding of the formation of translocations and their functional consequences.

  6. Significance of cytogenetic abnormalities in patients with polycythemia vera.

    PubMed

    Sever, Matjaz; Quintás-Cardama, Alfonso; Pierce, Sherry; Zhou, Lingsha; Kantarjian, Hagop; Verstovsek, Srdan

    2013-12-01

    We analyzed 133 patients with polycythemia vera (PV) who were followed at our institution (median 7.5 years) and had adequate cytogenetics information. The 5-, 10- and 15-year survival rates were 93%, 79% and 64%, respectively, with a median projected overall survival of 24 years. Nineteen patients (14%) had abnormal cytogenetics at any time during the disease course (no survival difference). Sixteen patients (12%) underwent disease transformation during follow-up, after a median of 8.5 years, to myelofibrosis (n = 11), acute myeloid leukemia (n = 4) or myelodysplastic syndrome (n = 1); eight had cytogenetic abnormalities. Among 133 patients, 39 were newly diagnosed: 33 with normal and six with abnormal cytogenetics (no survival difference); nine underwent disease transformation (six with normal and three with abnormal cytogenetics at diagnosis). In keeping with other smaller series, the presence of chromosomal abnormalities may have had a role in disease transformation in patients with PV; survival was not affected likely due to short follow-up. PMID:23488603

  7. Clinical and cytogenetic features of 508 Chinese patients with myelodysplastic syndrome and comparison with those in Western countries.

    PubMed

    Chen, B; Zhao, W-L; Jin, J; Xue, Y-Q; Cheng, X; Chen, X-T; Cui, J; Chen, Z-M; Cao, Q; Yang, G; Yao, Y; Xia, H-L; Tong, J-H; Li, J-M; Chen, J; Xiong, S-M; Shen, Z-X; Waxman, S; Chen, Z; Chen, S-J

    2005-05-01

    Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis and leukemia progression. Racial differences may exist on clinical pictures and the molecular events leading to MDS, which are heterogeneous. To better define the clinical and cytogenetic features in Chinese patients, a retrospective multicentric study was performed in 508 MDS cases. Compared with Western countries, Chinese patients showed younger age (median: 49 vs 65-73 years), lower percentages of RARS (2.8 vs 6.6-15.3%), and CMML (5.2 vs 11.7-30.6%). Cytogenetically, among 367 cases with evaluable data, abnormal karyotypes were found in 136 cases, including 56 numerical and 80 structural changes. Incidences of single chromosome 5 and 7 abnormalities were lower than those in Western countries (2.2 vs 17.8-42.5%). However, complex cytogenetic aberrations and chromosome translocations were frequently observed and related to poor prognosis. Both multiple chromosome deletions and translocations were detected in advanced subtypes (RAEB and RAEB-T). Analysis of 200 cases revealed a higher incidence of hepatitis-B-virus infection than that in non-MDS population (21.00 vs 9.75%). This study further confirmed: (1) different genetic/environmental backgrounds between Asian and Western MDS populations; (2) a strong predictive value of cytogenetic abnormalities on disease outcome and involvement of genomic instability in leukemia clone development. PMID:15759035

  8. Assessment of occupational cytogenetic risk, among petrol station workers.

    PubMed

    Bindhya, Sadhanandhan; Balachandar, Vellingiri; Sudha, Sellapa; Mohana Devi, Subramaniam; Varsha, Prakash; Kandasamy, Kanagaraj; Gnana Prakash, Visvanathan; Sasikala, Keshavarao

    2010-08-01

    The focal aim of this study was to assess the frequency of chromosomal aberrations (CA) including chromatid type aberrations (CTA) and chromosomal type aberrations (CSA), micronucleus (MN) and XRCC1 399 Arg/Gln polymorphism in the peripheral blood lymphocytes of 27 petrol pump workers and same number of controls to explore the possible cytogenetic risk on occupational exposure to petrol vapors. The exposed subjects and controls were classified into two groups based on their age (group I < 40 years; group II > 40 years) apart from the classification of the exposed subjects based on their exposure duration (> 8 and < 8 years). CTA and MN frequency were significantly higher in petrol pump workers (p < 0.05) with longer work duration. CTA was found to increase with age in the exposed subjects as well as controls, with exposed subjects showing a statistically higher degree. This effect was not observed in MN. A significantly higher frequency of MN was observed in the smoking petrol pump workers than in control smokers (p < 0.05). No association was found between smoking and CA in both subjects. The study on XRCC1 399 Arg/gln polymorphism in petrol pump workers demonstrated very less difference in allele frequency compared to controls. In conclusion, these datas indicate that petrol pump workers under risk group should be monitored for any long-term adverse effects of the exposure. PMID:20652227

  9. Cytogenetic analysis in Rothmund-Thomson syndrome with osteosarcoma

    SciTech Connect

    Amar, M.; Sutphen, R.; Kousseff, B.G.

    1994-09-01

    Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive condition of poikiloderma, erythema, depigmentation, hyperpigmentation, musculoskeletal abnormalities and abnormalities of hair, teeth and nails. Osteogenic sacoma has been reported in 8 patients. Abnormal chromosome studies have been reported in only two patients. Chromosome analysis of tumor or bone marrow has not been reported. We performed cytogenetic studies on a patient with Rothmund-Thomson syndrome and osteogenic sarcoma. Analysis of peripheral lymphocytes revealed 46, XX karyotype by GTW banding. Both spontaneous and chemically-induced chromosome breakage (0.35 and 0.8 breaks/cell) were increased but not significantly different from the age-matched control levels (0.05 and 0.25 breaks/cell). Analysis of mitogen-stimulated bone marrow by Giemsa banding showed slightly increased aneuploidy (20% of cells with random loss of 1 to 5 chromosomes each) and non-specific chromatid despiralization. All 34 cells analyzed from the tumor had normal diploid karyotype, 46.XX. Five of 40 cells derived from skin of the amputated right leg were hyperdiploid with karyotype 47, XX, +7. Skin from the right forearm showed normal karyotype, 46,XX. These results suggest that RTS is associated with chromosomal rearrangement causing acquired somatic mosaicism, including trisomy 7 anomalies. These abnormalities may aid in the diagnosis of RTS and provide clues to the location of the causative gene(s).

  10. Cytogenetic abnormalities in Tunisian women with premature ovarian failure.

    PubMed

    Ayed, Wiem; Amouri, Ahlem; Hammami, Wajih; Kilani, Olfa; Turki, Zinet; Harzallah, Fatma; Bouayed-Abdelmoula, Nouha; Chemkhi, Imen; Zhioua, Fethi; Slama, Claude Ben

    2014-12-01

    To identify the distribution of chromosome abnormalities among Tunisian women with premature ovarian failure (POF) referred to the department of Cytogenetic at the Pasteur Institute of Tunis (Tunisia), standard cytogenetic analysis was carried out in a total of 100 women younger than 40 affected with premature ovarian failure. We identified 18 chromosomal abnormalities, including seven X-numerical anomalies in mosaic and non-mosaic state (45,X; 47,XXX), four sex reversal, three X-structural abnormalities (terminal deletion and isochromosomes), one autosomal translocation and one supernumerary marker. The overall prevalence of chromosomal abnormalities was 18% in our cohort. X chromosome aneuploidy was the most frequent aberration. This finding confirms the essential role of X chromosome in ovarian function and underlies the importance of cytogenetic investigations in the routine management of POF. PMID:25433561

  11. The impact of additional cytogenetic abnormalities at diagnosis and during therapy with tyrosine kinase inhibitors in Chronic Myeloid Leukaemia

    PubMed Central

    Crisan, AM; Coriu, D; Arion, C; Colita, A; Jardan, C

    2015-01-01

    Background: Chronic Myeloid Leukemia’s (CML) treatment was optimized since the development of tyrosine kinase inhibitors (TKI) and an increased overall survival during TKI was noticed. During the TKI era, protocols for assessing response and resistance to treatment were developed. Additional chromosomal abnormalities (ACAs) are strongly associated with disease progression but their prognostic impact and influence on treatment response are yet to be defined. The aim of this study was to analyze the impact of ACAs on time to achieve complete cytogenetic response (CCyR), treatment and overall survival. Materials and methods: Since 2005 until 2013, the data from the Hematology and Bone Marrow Transplantation Department of Fundeni Clinical Institute was collected. In this observational retrospective single centre study, 28 CML patients with ACAs at diagnosis and during TKI treatment were included. Results: From ACAs at diagnosis group, the most frequent major route ACAs were trisomy 8, trisomy 19 and second Philadelphia (Ph) chromosome and the most frequent minor route ACAs were monosomies and structural abnormalities (inversions and translocations). From the ACAs during the TKI group, the most frequent major route cytogenetic abnormalities in Ph positive and negative cells were trisomy 8, trisomy 19 and second Ph chromosome and the most frequent minor route cytogenetic abnormalities in Ph positive and negative cells were marker chromosomes and structural abnormalities (inversions, translocations and dicentric chromosomes). Conclusions: In both groups, the time to CCyR was longer and long-term results were inferior in comparison with standard patients but the differences were not significant and in accordance to published data. The 12 months follow-up after the study’s end showed that 26 patients were alive and in long-term CCyR and 2 deaths were reported. Abbreviations: CML = Chronic Myeloid Leukemia, BCR-ABL1 = Break Cluster Region - Abelson gene, TKI = tyrosine

  12. Lipomatous Change in Uveal Melanoma: Histopathological, Immunohistochemical and Cytogenetic Analysis

    PubMed Central

    Yavuzyigitoglu, Serdar; Kilic, Emine; Vaarwater, Jolanda; de Klein, Annelies; Paridaens, Dion; Verdijk, Robert M.

    2016-01-01

    Purpose The aim of this study was to describe a case of lipomatous change in uveal melanoma. Procedures The patient presented with a 2-year history of blurry vision. A full examination of the right eye revealed a dome-shaped pigmented subretinal mass in the choroid with a thickness of 9 mm and a diameter of 15 mm. The eye was enucleated and prepared for histopathologic, genetic and molecular investigation. Results Histopathology revealed a small circumscribed area consisting of mature adipocytic appearing cells with abundant clear cytoplasm and small peripheral flattened nuclei within a spindle-cell melanoma of the uvea. The cytoplasm of the adipocytic cells stained negative for periodic acid-Schiff and Alcian blue and positive for Melan-A, HMB-45 and tyrosinase, confirming melanocytic lineage. Fluorescence in situ hybridization analysis confirmed trisomy of chromosome 6p22 and disomy of chromosome 3p13 in the nuclei of both the tumor spindle type B cells and in the nuclei of lipomatous tumor cells. Conclusions Lipomatous change can be added to the many histopathologic faces of uveal melanoma. To our knowledge, this is the first report of lipomatous change in uveal melanoma performed with cytogenetic investigations. PMID:27239451

  13. Comparative Cytogenetics of the Congo African Grey Parrot (Psittacus erithacus).

    PubMed

    Seibold-Torres, Cassandra; Owens, Elaine; Chowdhary, Renuka; Ferguson-Smith, Malcolm A; Tizard, Ian; Raudsepp, Terje

    2015-01-01

    The Congo African grey parrot (Psittacus erithacus, PER) is an endemic species of Central Africa, valued for its intelligence and listed as vulnerable due to poaching and habitat destruction. Improved knowledge about the P. erithacus genome is needed to address key biological questions and conservation of this species. The P. erithacus genome was studied using conventional and molecular cytogenetic approaches including Zoo-FISH. P. erithacus has a 'typical' parrot karyotype with 2n = 62-64 and 8 pairs of macrochromosomes. A distinct feature was a sharp macro-microchromosome boundary. Telomeric sequences were present at all chromosome ends and interstitially in PER2q, the latter coinciding with a C-band. NORs mapped to 4 pairs of microchromosomes which is in contrast to a single NOR in ancestral type avian karyotypes. Zoo-FISH with chicken macrochromosomes GGA1-9 and Z revealed patterns of conserved synteny similar to many other avian groups, though neighboring synteny combinations of GGA6/7, 8/9, and 1/4 were distinctive only to parrots. Overall, P. erithacus shared more Zoo-FISH patterns with neotropical macaws than Australian species such as cockatiel and budgerigar. The observations suggest that Psittaciformes karyotypes have undergone more extensive evolutionary rearrangements compared to the majority of other avian genomes. PMID:26894300

  14. Cytogenetic damage and occupational exposure. I. Exposure to stone dust.

    PubMed

    Sobti, R C; Bhardwaj, D K

    1991-10-01

    Cytogenetic investigations were carried out on 50 workers exposed to stone dust in a stone crusher industry and on 25 control subjects never exposed to such dust. The frequency of chromosomal aberrations and sister chromatid exchanges in exposed individuals was significantly higher than that in controls (P less than 0.01). The cytogenetic indices demonstrated a clear dependence on the working environment. The effect of smoking and/or alcoholic habits coupled with exposure to stone dust has also been investigated. The results indicate that the mutagenic risk in the working environment is probably associated with silica dust in the area. PMID:1655400

  15. Cytogenetic findings in persons living near the Love Canal

    SciTech Connect

    Heath, C.W. Jr.; Nadel, M.R.; Zack, M.M. Jr.; Chen, A.T.L.; Bender, M.A.; Preston, R.J.

    1984-03-16

    Cytogenetic analyses were performed on peripheral blood from 46 present or past residents of the areas surrounding Love Canal, a former dump site for chemical wastes in Niagara Falls, NY. Participants included 17 persons in whom cytogenetic analyses had been performed in 1980 and 29 persons who had been living in 1978 in seven homes that directly adjoined the canal and in which environmental tests showed elevated levels of chemicals spreading from the canal. Frequencies of chromosomal aberrations and of sister chromatid exchange (SCE) did not differ significantly from control levels. For all participants, cigarette smoking was associated with an increase in sister chromatid exchange frequency.

  16. Cytogenetic findings in persons living near the Love Canal.

    PubMed

    Heath, C W; Nadel, M R; Zack, M M; Chen, A T; Bender, M A; Preston, R J

    1984-03-16

    Cytogenetic analyses were performed on peripheral blood from 46 present or past residents of the area surrounding Love Canal, a former dump site for chemical wastes in Niagara Falls, NY. Participants included 17 persons in whom cytogenetic analyses had been performed in 1980 and 29 persons who had been living in 1978 in seven homes that directly adjoined the canal and in which environmental tests showed elevated levels of chemicals spreading from the canal. Frequencies of chromosomal aberrations and of sister chromatid exchange (SCE) did not differ significantly from control levels. For all participants, cigarette smoking was associated with an increase in sister chromatid exchange frequency. PMID:6700040

  17. Interphase Molecular Cytogenetic Detection Rates of Chronic Lymphocytic Leukemia-Specific Aberrations Are Higher in Cultivated Cells Than in Blood or Bone Marrow Smears.

    PubMed

    Alhourani, Eyad; Aroutiounian, Rouben; Harutyunyan, Tigran; Glaser, Anita; Schlie, Cordula; Pohle, Beate; Liehr, Thomas

    2016-08-01

    Banding cytogenetics is still the gold standard in many fields of leukemia diagnostics. However, in chronic lymphocytic leukemia (CLL), GTG-banding results are hampered by a low mitotic rate of the corresponding malignant lymphatic cells. Thus, interphase fluorescence in situ hybridization (iFISH) for the detection of specific cytogenetic aberrations is done nowadays as a supplement to or even instead of banding cytogenetics in many diagnostic laboratories. These iFISH studies can be performed on native blood or bone marrow smears or in nuclei after cultivation and stimulation by a suitable mitogen. As there are only few comparative studies with partially conflicting results for the detection rates of aberrations in cultivated and native cells, this question was studied in 38 CLL cases with known aberrations in 11q22.2, 11q22.3, 12, 13q14.3, 14q32.33, 17p13.1, or 18q21.32. The obtained results implicate that iFISH directly applied on smears is in general less efficient for the detection of CLL-specific genetic abnormalities than for cultivated cells. This also shows that applied cell culture conditions are well suited for malignant CLL cells. Thus, to detect malignant aberrant cells in CLL, cell cultivation and cytogenetic workup should be performed and the obtained material should be subjected to banding cytogenetics and iFISH. PMID:27315825

  18. Development of new techniques of using irradiation in the genetic improvement of warm season grasses, the assessment of their genetic and cytogenetic effects and biomass production from grass. Annual progress report, November 1, 1979 to October 31, 1980

    SciTech Connect

    Burton, G W; Hanna, W W

    1980-01-01

    New techniques are described for using irradiation and chemical mutagens in the genetic improvement of several warm season grasses. Genetic and cytogenetic effects of these treatments are also being studied. (ACR)

  19. Cytogenetic abnormalities and genomic copy number variations in EPO (7q22) and SEC-61(7p11) genes in primary myelodysplastic syndromes.

    PubMed

    Mohanty, Purvi; Korgaonkar, Seema; Shanmukhaiah, Chandrakala; Ghosh, Kanjaksha; Vundinti, Babu Rao

    2016-07-01

    Myelodysplastic syndromes (MDSs) are heterogeneous clonal haematopoeitic stem cell disorders characterized by ineffective haematopoeisis, cytopenias and risk of progression to AML. We studied 150 MDS patients for cytogenetic aberrations and 60 patients with normal karyotype and 40 patients harboring cytogenetic abnormalities for copy number variations (CNVs). Cytogenetic abnormalities were detected in 46% of patients with a majority of patients harboring abnormalities of chromosome 7 and del (20q) at frequencies of 16% and 12% respectively. We explored the potential of quantitative multiplex PCR assay of short fluorescent fragments (QMPSF) to identify CNVs and correlated the findings with cytogenetic data and disease prognosis. CNVs (n=31) were detected in 28.3% of karyotypically normal and 23% patients with abnormal karyotype. Genetic losses or deletions (n=26) were more frequent than duplications (n=5). EPO (7q22) and SEC-61(7p11) emerged as new candidate genes susceptible to genetic losses with 57.7% deletions identified in regions on chromosome 7. The CNVs correlated with International Prognostic Scoring System (IPSS) intermediate disease risk group. Our integrative cytogenetic and copy number variation study suggests that abnormalities of chromosome 7 are predominant in Indian population and that they may play a secondary role in disease progression and should be evaluated further for asserting their clinical significance and influence on disease prognosis. PMID:27282568

  20. Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia

    PubMed Central

    Patnaik, M M; Tefferi, A

    2016-01-01

    Chronic myelomonocytic leukemia (CMML) is a clonal stem cell disorder associated with peripheral blood monocytosis and an inherent tendency to transform to acute myeloid leukemia. CMML has overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms. Clonal cytogenetic changes are seen in ~30%, whereas gene mutations are seen in >90% of patients. Common cytogenetic abnormalities include; trisomy 8, -Y, -7/del(7q), trisomy 21 and del(20q), with the Mayo–French risk stratification effectively risk stratifying patients based on cytogenetic abnormalities. Gene mutations frequently involve epigenetic regulators (TET2 ~60%), modulators of chromatin (ASXL1 ~40%), spliceosome components (SRSF2 ~50%), transcription factors (RUNX1 ~15%) and signal pathways (RAS ~30%, CBL ~15%). Of these, thus far, only nonsense and frameshift ASXL1 mutations have been shown to negatively impact overall survival. This has resulted in the development of contemporary, molecularly integrated (inclusive of ASXL1 mutations) CMML prognostic models, including Molecular Mayo Model and the Groupe Français des Myélodysplasies model. Better understanding of the prevalent genetic and epigenetic dysregulation has resulted in emerging targeted treatment options for some patients. The development of an integrated (cytogenetic and molecular) prognostic model along with CMML-specific response assessment criteria are much needed future goals. PMID:26849014

  1. Practical Instruction in Tissue Culture and Cytogenetics for Sandwich Students.

    ERIC Educational Resources Information Center

    Williams, D. C.; Bishun, N. P.

    1973-01-01

    Describes the training and practical techniques taught to students involved in a sandwich course at the Tissue Culture and Cytogenetics Unit of the Marie Curie Memorial Foundation, Surrey, England. Students spend a minimum of six months involved in the sandwich course before returning to university for a final academic year. (JR)

  2. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 42 Public Health 5 2010-10-01 2010-10-01 false Standard: Clinical cytogenetics. 493.1276 Section 493.1276 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) STANDARDS AND CERTIFICATION LABORATORY REQUIREMENTS Quality System for...

  3. CYTOGENETIC INVESTIGATIONS OF NON-DORMANT ALFALFA GERMPLASM SOURCES

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The combined techniques of chromosome C-banding, image analysis, and cluster analysis were utilized to compare the four historically distinct non-dormant alfalfa germplasm sources of tetraploid alfalfa (Medicago sativa ssp. sativa). Cytogenetic analyses revealed polymorphisms for heterochromatic DN...

  4. Constructing a Cytogenetic Map of the Maize Genome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We are developing a pachytene cytogenetic FISH (Fluorescence in situ Hybridization) map of the maize (Zea mays L.) genome using maize marker-selected sorghum BACs (Bacterial Artificial Chromosome) as described by Koumbaris and Bass (2003, Plant J. 35:647). The two main projects are the production of...

  5. Cytogenetic and molecular findings in patients with Turner's syndrome stigmata.

    PubMed Central

    Kuznetzova, T; Baranov, A; Schwed, N; Ivaschenko, T; Malet, P; Giollant, M; Savitsky, G A; Baranov, V

    1995-01-01

    Cytogenetic and DNA analysis in 12 people with stigmata of Turner's syndrome was carried out. Cytogenetic analysis of these patients showed two subjects with 46,X, i(Xq) karyotypes, one with 45,X/46,X, i(Xq), one with 46,X,t(X;Y), and eight with 45,X/46,X,mar. Molecular analysis of DNA samples was performed in nine out of 12 patients with marker chromosomes. PCR analysis with oligoprimers specific for SRY, DYZ1, or DYZ3 loci identified Y chromosome material in five patients in the latter group. The X chromosome origin of the marker chromosome was proved by FISH technique with biotin labelled pericentromeric X chromosome specific probe in four other patients. These results show that patients with a number of Turner's syndrome stigmata usually do not have a typical XO karyotype but have some structural chromosomal aberrations involving the X or Y chromosomes. Combined application of cytogenetic, molecular cytogenetic (FISH), and PCR techniques significantly improves the precision of marker chromosome identification and thus might be of practical importance for the proper management and treatment of affected patients. Peculiarities of pathological manifestations of different karyotypes bearing structural abnormalities of the X or Y chromosomes in patients with Turner's syndrome stigmata, as well as feasible genetic mechanisms of sex determination and differentiation abnormalities in these subjects, are briefly discussed. Images PMID:8825925

  6. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Code of Federal Regulations, 2012 CFR

    2012-10-01

    ... 493.1276 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN... and procedures for ensuring accurate and reliable patient specimen identification during the process... of cells counted and analyzed, and use the International System for Human Cytogenetic...

  7. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Code of Federal Regulations, 2014 CFR

    2014-10-01

    ... 493.1276 Public Health CENTERS FOR MEDICARE & MEDICAID SERVICES, DEPARTMENT OF HEALTH AND HUMAN... and procedures for ensuring accurate and reliable patient specimen identification during the process... of cells counted and analyzed, and use the International System for Human Cytogenetic...

  8. Cytogenetic and clinical features of a 13 year old male with trisomy 8

    PubMed Central

    Balkan, Mahmut; Fidanboy, Mehmet; Özmen, Cihan; Özbek, M. Nuri; Otçu, Selçuk; Kapı, Emin; Budak, Turgay

    2012-01-01

    Trisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with “trisomy 8 mosaicism” are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems. Our results are in agreement with those of previous studies for trisomy 8.

  9. International Working Group on MDS cytogenetics: October 2007 meeting report.

    PubMed

    Slovak, Marilyn L; Dewald, Gordon W

    2008-09-01

    The inaugural meeting of the International Working Group on MDS cytogenetics convened 22-23 October 2007 in Chicago, IL. Under the sponsorship of the Myelodysplastic Syndromes Foundation, the group was organized to address the substantial need for worldwide standardized cytogenetic testing for MDS in clinical practice and research. Eighteen cytogeneticists from 10 countries attended the first working group meeting. Representatives from France and Austria were unable to attend the Chicago meeting. Marilyn L. Slovak, PhD (City of Hope, USA) served as Working Group Chair and Gordon Dewald, PhD (Mayo Clinic, USA), served as Working Group Advisor and Co-Chair. Other members in attendance included: Mette Andersen, Rigshospitalet, Denmark; Lynda Campbell, St. Vincent's Hospital Melbourne, Australia; Athena Cherry, Stanford University, USA; Kathy Chun, North York General Hospital, Canada; Mike Griffiths, West Midlands Regional Genetics Lab, UK; Detlef Haase, Georg-August-Universität, Germany; Claudia Haferlach, MLL Münchner Leukämielabor GmbH, Germany; Anne Hagemeijer, University of Leuven, Belgium; Barbara Hildebrandt, Institut für Humangenetik & Anthropologie Dupsilonsseldorf, Germany; Douglas Horsman, BC Cancer Agency, Canada; M. Anwar Iqbal, University of Rochester, USA; Suresh Jhanwar, Memorial Sloan-Kettering Cancer Center, USA; Bertil Johansson, University Hospital, Sweden; Michelle LeBeau, University of Chicago, USA; Kazuma Ohyashiki, Tokyo Medical University, Japan; Francesc Solé, Hospital del Mar, Spain. The focus of the working group was to establish the natural history and clinical significance of cytogenetic anomalies associated with the myelodysplastic syndromes (MDS), and to incorporate cytogenetic testing into the development of new treatments to cure MDS. Three specific goals were discussed in an effort to rapidly improve the care of patients with MDS. The first goal was how to educate physicians on the appropriate use of cost effective cytogenetic

  10. [Cytogenetic and other cariological parameters of exfoliative buccal cells in Vietnamese children from areas where dioxin-containing herbicides were applied].

    PubMed

    Sycheva, L P; Mozhaeva, T E; Umnova, N V; Zhuchenko, N A; Diep, Vu Hong; Tuyet, Hoang Anh

    2008-01-01

    In a cohort of 69 South Vietnam children, full cariological analysis of buccal epithelial cells was performed. In order to evaluate the significance of cariological changes, all the parameters under study were divided into three groups: cytogenetic indices, apoptotic indices, and indirect indices of proliferation; integral indexes in each group were determined and the relations between them were found while assessing the effects of environment pollution on public health. The number of cells with cytogenetic alterations (micronuclei and protrusions) was increased, the process of tissue proliferation was intensified, and the apoptotic process was decelerated in children li-ing in areas polluted with Agent Orange/dioxins, which evidenced that the complex of environmental factors these superecotoxicants were part of had a harmful effect on the population. The parameters studied did not depend on age and sex of the children; the number of congenital morphogenetic variants per one child significantly correlated with the sum of cells with cytogenetic alterations. PMID:18318151

  11. Cytogenetic and molecular characterization of 57 individuals with the Parder-Willi syndrome

    SciTech Connect

    Butler, M.G.; Forrest, K.B.; Miller, L.K.

    1994-09-01

    Prader-Willi syndrome (PWS) is characterized by hypotonia, early childhood obesity, mental deficiency, hypogonadism and an interstitial deletion of 15q11q13 of paternal origin in 50-70% of patients. The remaining patients have either submicroscopic deletions, maternal disomy or other anomalies of chromosome 15. We have undertaken cytogenetic and molecular genetic studies of 57 individuals presenting with features consistent with PWS (28 males and 29 females; age range of 3 months to 38 years), 25 with recognizable 15q11q13 deletions (44%), 28 with normal appearing chromosomes (49%), and four patients with other chromosome 15 anomalies (7%). High resolution chromosome analysis and PCR amplification were performed utilizing 17 STRs from 15q11q13 region, quantitative Southern hybridization using seven 15q11q13 probes, and fluorescence in situ hybridization (FISH) using four 15q11q13 probes (4-3R, SNRPN, 3-21, and GABRB3). The cytogenetic deletion was paternal in all PWS families studied but the deletion varied in size in 10 patients. Parental DNA studies from 20 of 28 non-deletion patients showed maternal disomy in 7 patients and biparental inheritance in 13 non-deletion patients. In order to evaluate for submicroscopic deletions, PCR amplification with several loci in the area of the PWS minimal critical region, FISH using SNRPN and quantitative hybridization using a PCR product generated from primers of exons E and H of the SNRPN gene were undertaken on the non-deletion patients. Quantitative hybridization and FISH using SNRPN from 3 of 11 non-deletion patients (excluding maternal disomy cases) showed a submicroscopic deletion. One of these patients also showed a paternal deletion of D15S128 and MN1. We furthur support the use of both cytogenetic and molecular genetic methods for determining the genetic status of PWS patients.

  12. Cytogenetic analysis of the pathology of frozen shoulder

    PubMed Central

    Kabbabe, Benjamin; Ramkumar, Satish; Richardson, Martin

    2010-01-01

    Background: Frozen shoulder (FS) is a debilitating musculoskeletal condition with an uncertain etiology and pathogenic mechanism. The aim of this study was to investigate the hypothesis that an alteration in the level of cytokines may disrupt the normal inflammatory and tissue healing process in the shoulder, leading to the development of FS. Materials and Methods: A prospective case–control study was undertaken, analyzing patients undergoing arthroscopic treatment of FS and control patients being treated for subacromial bursitis. Synovial biopsies were taken from all subjects. Synovial RNA levels were analyzed using quantitative polymerase chain reaction (qPCR) Results: Thirteen patients with FS were recruited, four of whom were diagnosed with diabetes mellitus, along with 10 control patients. Cytogenetic analysis using qPCR revealed both fibrogenic cytokine matrix metalloproteinase 3 (MMP 3) (1.98×10 5 vs. 755.0, P=0.068) and inflammatory cytokine interleukin 6 (IL 6) (1679.2 vs. 372.8, P=0.062) to be elevated in FS cases as compared to controls. Comparison between diabetic and non-diabetic patients revealed a decrease in the level of expression of inflammatory cytokine, monocyte colony stimulating factor (M-CSF) (12,496 vs. 305.1, P=0.04) in diabetic FS patients. Conclusions: The results demonstrate that levels of inflammatory and fibrogenic cytokines are elevated in the synovium of patients with FS compared with controls. This indicates that altered levels of inflammatory cytokines may be associated with the pathogenesis of inflammation evolving into fibrosis, which is the characteristic feature of FS. We have also shown the opposite to be the case in patients with diabetic FS. PMID:21472067

  13. [Cytogenetic effects of 1,4-dihydropyridine in various test systems].

    PubMed

    Kuzhir, T D; Goncharova, R I; Zolotareva, G N

    1984-01-01

    Cytogenetic effect of 1,4-dihydropyridine was studied in different test-systems. The preparation is shown to decrease the level of complete sex-chromosome losses in Drosophila and chromosome aberration frequency in Allium fistulosum seedlings. The preparation does not affect spontaneous mutability of bone marrow cells in mice, high doses of the preparation have no mutagenic potential. Thus, 1,4-dihydropyridine shows antimutagenic activity reducing the chromosome mutation level in sex and somatic cells of eucaryotic organisms. Absence of the effect on mice chromosomes may testify to the specificity of 1,4-dihydropyridine action. PMID:6506216

  14. Cytogenetic analysis of lymphocytes from fiberglass-reinforced plastics workers occupationally exposed to styrene.

    PubMed

    Van Hummelen, P; Severi, M; Pauwels, W; Roosels, D; Veulemans, H; Kirsch-Volders, M

    1994-10-01

    In this study a group of 52 workers employed in a plant manufacturing fiberglass-reinforced plastic (FRP) pipes and cisterns, and therefore daily exposed to styrene, were monitored. As a control group 24 non-exposed workers from another factory producing and repairing pallets volunteered to participate. The airborne styrene during the monitoring ranged from 2.2 to 110.1 mg/m3. As a metabolic marker for styrene exposure mandelic acid was measured in the urine and ranged from 11 to 649 mg/g creatinine. From 43 exposed and 15 control workers sister-chromatid exchanges (SCE) and high frequency cell (HFC) data and from 49 exposed and 23 control workers micronucleus (MN) data from peripheral lymphocytes are reported. Although the two groups of workers could clearly be distinguished on the basis of the airborne styrene concentrations and urinary mandelic acid concentrations no differences in any of the cytogenetic markers were found. Correlations between the cytogenetic data and the level of airborne styrene concentrations or urinary mandelic acid levels could also not be demonstrated. Otherwise, smoking increased the SCE frequency. Grouping the workers according to smoking habits showed a statistically significant difference in SCE. Moreover, levels of urinary thiocyanate (SCN), which can be used as a metabolic marker for smoking, showed a significant positive correlation with the number of SCE. This indicates that SCE is a sensitive biomarker and might still be useful in biomonitoring. However, only chronic exposures over a long period would probably be detectable. In this study, where exposure was rather low and the number of working years was small (mean of 2.9 years), cytogenetic effects are probably too low or rare to be detectable with any assay. PMID:7523881

  15. Ozone Inhalation Leads to a Dose-Dependent Increase of Cytogenetic Damage in Human Lymphocytes

    PubMed Central

    Holland, Nina; Davé, Veronica; Venkat, Subha; Wong, Hofer; Donde, Aneesh; Balmes, John R; Arjomandi, Mehrdad

    2014-01-01

    Ozone is an important constituent of ambient air pollution and represents a major public health concern. Oxidative injury due to ozone inhalation causes the generation of reactive oxygen species and can be genotoxic. To determine whether ozone exposure causes genetic damage in peripheral blood lymphocytes, we employed a well-validated cytokinesis-block micronucleus Cytome assay. Frequencies of micronuclei (MN) and nucleoplasmic bridges (NB) were used as indicators of cytogenetic damage. Samples were obtained from 22 non-smoking healthy subjects immediately before and 24-hr after controlled 4-hr exposures to filtered air, 100 ppb, and 200 ppb ozone while exercising in a repeated-measure study design. Inhalation of ozone at different exposure levels was associated with a significant dose-dependent increase in MN frequency (P < 0.0001) and in the number of cells with more than 1 MN per cell (P < 0.0005). Inhalation of ozone also caused an increase in the number of apoptotic cells (P = 0.002). Airway neutrophilia was associated with an increase in MN frequency (P = 0.033) independent of the direct effects of ozone exposure (P < 0.0001). We also observed significant increases in both MN and NB frequencies after exercise in filtered air, suggesting that physical activity is also an important inducer of oxidative stress. These results corroborate our previous findings that cytogenetic damage is associated with ozone exposure, and show that damage is dose-dependent. Further study of ozone-induced cytogenetic damage in airway epithelial cells could provide evidence for the role of oxidative injury in lung carcinogenesis, and help to address the potential public health implications of exposures to oxidant environments. PMID:25451016

  16. Molecular cytogenetic map of the central bearded dragon, Pogona vitticeps (Squamata: Agamidae).

    PubMed

    Young, M J; O'Meally, D; Sarre, S D; Georges, A; Ezaz, T

    2013-07-01

    Reptiles, as the sister group to birds and mammals, are particularly valuable for comparative genomic studies among amniotes. The Australian central bearded dragon (Pogona vitticeps) is being developed as a reptilian model for such comparisons, with whole-genome sequencing near completion. The karyotype consists of 6 pairs of macrochromosomes and 10 pairs microchromosomes (2n = 32), including a female heterogametic ZW sex microchromosome pair. Here, we present a molecular cytogenetic map for P. vitticeps comprising 87 anchor bacterial artificial chromosome clones that together span each macro- and microchromosome. It is the first comprehensive cytogenetic map for any non-avian reptile. We identified an active nucleolus organizer region (NOR) on the sub-telomeric region of 2q by mapping 18S rDNA and Ag-NOR staining. We identified interstitial telomeric sequences in two microchromosome pairs and the W chromosome, indicating that microchromosome fusion has been a mechanism of karyotypic evolution in Australian agamids within the last 21 to 19 million years. Orthology searches against the chicken genome revealed an intrachromosomal rearrangement of P. vitticeps 1q, identified regions orthologous to chicken Z on P. vitticeps 2q, snake Z on P. vitticeps 6q and the autosomal microchromosome pair in P. vitticeps orthologous to turtle Pelodiscus sinensis ZW and lizard Anolis carolinensis XY. This cytogenetic map will be a valuable reference tool for future gene mapping studies and will provide the framework for the work currently underway to physically anchor genome sequences to chromosomes for this model Australian squamate. PMID:23703235

  17. The First Cytogenetic Data on Strumigenys louisianae Roger, 1863 (Formicidae: Myrmicinae: Dacetini): The Lowest Chromosome Number in the Hymenoptera of the Neotropical Region

    PubMed Central

    Alves-Silva, Ana Paula; Barros, Luísa Antônia Campos; Chaul, Júlio Cézar Mário; Pompolo, Silvia das Graças

    2014-01-01

    In the present study, the first cytogenetic data was obtained for the ant species Strumigenys louisianae, from a genus possessing no previous cytogenetic data for the Neotropical region. The chromosome number observed was 2n = 4, all possessing metacentric morphology. Blocks rich in GC base pairs were observed in the interstitial region of the short arm of the largest chromosome pair, which may indicate that this region corresponds to the NORs. The referred species presented the lowest chromosome number observed for the subfamily Myrmicinae and for the Hymenoptera found in the Neotropical region. Observation of a low chromosome number karyotype has been described in Myrmecia croslandi, in which the occurrence of tandem fusions accounts for the most probable rearrangement for its formation. The accumulation of cytogenetic data may carry crucial information to ensure deeper understanding of the systematics of the tribe Dacetini. PMID:25379715

  18. A first generation cytogenetic ideogram for the Florida manatee (Trichechus manatus latirostris) based on multiple chromosome banding techniques

    USGS Publications Warehouse

    Gray, B.A.; Zori, Roberto T.; McGuire, P.M.; Bonde, R.K.

    2002-01-01

    Detailed chromosome studies were conducted for the Florida manatee (Trichechus manatus latirostris) utilizing primary chromosome banding techniques (G- and Q-banding). Digital microscopic imaging methods were employed and a standard G-banded karyotype was constructed for both sexes. Based on chromosome banding patterns and measurements obtained in these studies, a standard karyotype and ideogram are proposed. Characterization of additional cytogenetic features of this species by supplemental chromosome banding techniques, C-banding (constitutive heterochromatin), Ag-NOR staining (nucleolar organizer regions), and DA/DAPI staining, was also performed. These studies provide detailed cytogenetic data for T. manatus latirostris, which could enhance future genetic mapping projects and interspecific and intraspecific genomic comparisons by techniques such as zoo-FISH.

  19. Consolidation of the genetic and cytogenetic maps of turbot (Scophthalmus maximus) using FISH with BAC clones.

    PubMed

    Taboada, Xoana; Pansonato-Alves, Jose C; Foresti, Fausto; Martínez, Paulino; Viñas, Ana; Pardo, Belén G; Bouza, Carmen

    2014-06-01

    Bacterial artificial chromosomes (BAC) have been widely used for fluorescence in situ hybridization (FISH) mapping of chromosome landmarks in different organisms, including a few in teleosts. In this study, we used BAC-FISH to consolidate the previous genetic and cytogenetic maps of the turbot (Scophthalmus maximus), a commercially important pleuronectiform. The maps consisted of 24 linkage groups (LGs) but only 22 chromosomes. All turbot LGs were assigned to specific chromosomes using BAC probes obtained from a turbot 5× genomic BAC library. It consisted of 46,080 clones with inserts of at least 100 kb and <5 % empty vectors. These BAC probes contained gene-derived or anonymous markers, most of them linked to quantitative trait loci (QTL) related to productive traits. BAC clones were mapped by FISH to unique marker-specific chromosomal positions, which showed a notable concordance with previous genetic mapping data. The two metacentric pairs were cytogenetically assigned to LG2 and LG16, and the nucleolar organizer region (NOR)-bearing pair was assigned to LG15. Double-color FISH assays enabled the consolidation of the turbot genetic map into 22 linkage groups by merging LG8 with LG18 and LG21 with LG24. In this work, a first-generation probe panel of BAC clones anchored to the turbot linkage and cytogenetical map was developed. It is a useful tool for chromosome traceability in turbot, but also relevant in the context of pleuronectiform karyotypes, which often show small hardly identifiable chromosomes. This panel will also be valuable for further integrative genomics of turbot within Pleuronectiformes and teleosts, especially for fine QTL mapping for aquaculture traits, comparative genomics, and whole-genome assembly. PMID:24473579

  20. Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

    PubMed Central

    2013-01-01

    Background One of the frequent reasons for unsuccessful conception is premature ovarian failure/primary ovarian insufficiency (POF/POI) that is defined as the loss of functional follicles below the age of 40 years. Among the genetic causes the most common one involves the X chromosome, as in Turner syndrome, partial X deletion and X-autosome translocations. Here we report a case of a 27-year-old female patient referred to genetic counselling because of premature ovarian failure. The aim of this case study to perform molecular genetic and cytogenetic analyses in order to identify the exact genetic background of the pathogenic phenotype. Results For premature ovarian failure disease diagnostics we performed the Fragile mental retardation 1 gene analysis using Southern blot technique and Repeat Primed PCR in order to identify the relationship between the Fragile mental retardation 1 gene premutation status and the premature ovarion failure disease. At this early onset, the premature ovarian failure affected patient we detected one normal allele of Fragile mental retardation 1 gene and we couldn’t verify the methylated allele, therefore we performed the cytogenetic analyses using G-banding and fluorescent in situ hybridization methods and a high resolution molecular cytogenetic method, the array comparative genomic hybridization technique. For this patient applying the G-banding, we identified a large deletion on the X chromosome at the critical region (ChrX q21.31-q28) which is associated with the premature ovarian failure phenotype. In order to detect the exact breakpoints, we used a special cytogenetic array ISCA plus CGH array and we verified a 67.355 Mb size loss at the critical region which include total 795 genes. Conclusions We conclude for this case study that the karyotyping is definitely helpful in the evaluation of premature ovarian failure patients, to identify the non submicroscopic chromosomal rearrangement, and using the array CGH technique we can

  1. Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

    PubMed Central

    Upma; Kumar, Parvinder; Raina, T. R.; Sharma, Kuldeep; Gupta, Subash

    2010-01-01

    Background: Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocytes of the anemic patients. Aims: The aims of the study were to find out the commonest type of anemia occurring in the population of Jammu, India and to find out the chromosomal changes involved in the disorder. Material and Methods: Present study has been carried out on the bone marrow samples from 53 clinically diagnosed anemic patients. Cytogenetic study was carried out on slides prepared from these samples. Noncytogenetic factors like age, sex, religion, blood groups, family history of anemia, socioeconomic status, etc. have also been included in the study. Results: Megaloblastic anemia was found to be the commonest type of anemia. Centromere stretching, chromatid breaks, gaps, and elongation of chromosomes were recorded in patients with megaloblastic anemia and combined deficiency anemia. However, structural changes and numerical changes were totally absent. Conclusion: The commonest anemia among the people of Jammu region is megaloblastic anemia and its prevalence is increasing every year. Also, megaloblastic anemia is always associated with reversible cytogenetic changes. PMID:20859508

  2. No short-term cytogenetic consequences of Hungarian red mud catastrophe.

    PubMed

    Gundy, Sarolta; Farkas, Gyöngyi; Székely, Gábor; Kásler, Miklós

    2013-01-01

    Red mud is an industrial waste produced in the process of alumina extraction from bauxite with concentrated NaOH. When the red mud-containing reservoir collapsed in Ajka Alumina Plant Hungary in October 2010, the most serious immediate effects were caused by the high alkalinity (pH ≥ 13) of the flood. Many persons suffered burn-like damage to tissues and contact with caustic desiccated ultra-fine dust with traces of toxic metals also caused irritation of upper respiratory tract and eyes. This catastrophe was unique from the point of view of genotoxic effects as well. Therefore cytogenetic examinations were carried out on inhabitants, either with burns (17 persons) or on those inhaling desiccated caustic dust (42 persons). Chromosomal aberration (CA) analysis and bleomycin (BLM)-sensitivity assays, as possible markers of effects, were studied in peripheral blood lymphocytes of persons within 4-6 weeks following the catastrophe. Controls were matched for age, sex and smoking habits, and also places of residence with different constituents of air pollution either from rural (59 persons), or from urban environments (59 persons). Neither spontaneous rate of CAs (1.47% vs. 1.69%) nor BLM-induced in vitro chromosomal breakage (0.79 vs. 0.83 break/cell) showed elevated rates when cytogenetic biomarkers of genotoxicity were compared between controls and exposed persons. Time spent in cleaning did not affect cytogenetic changes either (R(2) = 0.04). BLM-induced mutagen sensitivity was similar in exposed and control persons (27.1% vs. 30.5%). It seems that the red mud exposure does not appear to pose an immediate genotoxic hazard on residents when measured with cytogenetic methods. We recommend, however, that those involved in clean-up activities should be followed closely not only for overall health, but also for further genotoxic risk assessment, because the long-term hazards of ultra-fine fugitive dust particles with alkalinity of residual NaOH in red mud are still

  3. Immunophenotypic, immunocytochemistry, ultrastructural, and cytogenetic characterization of mesenchymal stem cells from equine bone marrow.

    PubMed

    Maia, Leandro; Landim-Alvarenga, Fernanda C; Da Mota, Ligia S L Silveira; De Assis Golim, Marjorie; Laufer-Amorim, Reneé; De Vita, Bruna; Barberini, Danielle Jaqueta; Listoni, Amanda Jeronimo; De Moraes, Carolina Nogueira; Heckler, Marta Cristina Thomas; Amorim, Rogério Martins

    2013-06-01

    The aim of this study was to isolate, culture, and characterize mesenchymal stem cells (MSCs) from horse bone marrow (BM) using the techniques of flow cytometry, immunocytochemistry, cytogenetics, and electron microscopy. Immunophenotypic analysis revealed the presence of MSCs with high expression of the CD90 marker, lower expression of the CD44 marker, and absent expression of the CD34 marker. In assays of differentiation, the positive response to osteogenic (OST), chondrogenic (CDG), and adipogenic (ADP) differentiation signals was observed and characterized by deposition of calcium-rich extracellular matrix (OST), proteoglycans and collagen II (CDG) and intracellular deposition of fat drops (ADP). In immunocytochemical characterization, MSCs were immunopositive for CD44, vimentin, and PCNA, and they were negative for CD13. In the ultrastructural analysis of MSCs, the most outstanding characteristic was the presence of rough endoplasmic reticulum with very dilated cisterns filled with a low electrodensity material. Additionally, MSCs had normal karyotypes (2n = 64) as evidenced by cytogenetic analysis, and aneuploidy in metaphase was not observed. The protocols for isolating, culturing, and characterizing equine MSCs used in this study were shown to be appropriate for the production of a cell population with a good potential for differentiation and without aneuploidy that can be used to study future cellular therapies. PMID:23533133

  4. Cytogenetic characterization and genome size of the medicinal plant Catharanthus roseus (L.) G. Don

    PubMed Central

    Guimarães, Guilherme; Cardoso, Luísa; Oliveira, Helena; Santos, Conceição; Duarte, Patrícia; Sottomayor, Mariana

    2012-01-01

    Background and aims Catharanthus roseus is a highly valuable medicinal plant producing several terpenoid indole alkaloids (TIAs) with pharmaceutical applications, including the anticancer agents vinblastine and vincristine. Due to the interest in its TIAs, C. roseus is one of the most extensively studied medicinal plants and has become a model species for the study of plant secondary metabolism. However, very little is known about the cytogenetics and genome size of this species, in spite of their importance for breeding programmes, TIA genetics and emerging genomic research. Therefore, the present paper provides a karyotype description and fluorescence in situ hybridization (FISH) data for C. roseus, as well as a rigorous characterization of its genome size. Methodology The organization of C. roseus chromosomes was characterized using several DNA/chromatin staining techniques and FISH of rDNA. Genome size was investigated by flow cytometry using an optimized methodology. Principal results The C. roseus full chromosome complement of 2n = 16 includes two metacentric, four subtelocentric and two telocentric chromosome pairs, with the presence of a single nucleolus organizer region in chromosome 6. An easy and reliable flow cytometry protocol for nuclear genome analysis of C. roseus was optimized, and the C-value of this species was estimated to be 1C = 0.76 pg, corresponding to 738 Mbp. Conclusions The organization and size of the C. roseus genome were characterized, providing an important basis for future studies of this important medicinal species, including further cytogenetic mapping, genomics, TIA genetics and breeding programmes. PMID:22479673

  5. Cytogenetic findings on shoe workers exposed long-term to benzene.

    PubMed Central

    Tunca, B T; Egeli, U

    1996-01-01

    Cytogenetic analysis of peripheral blood lymphocytes was performed to detect cytogenetical alterations in 58 shoe workers (57 male and 1 female) who had been exposed to particular mutagenic or carcinogenic agents and in 20 subjects selected from the general population as a control group. Frequencies of damaged cells, including gaps, breaks, and rearrangements (acentric fragment, deletion, translocations) were scored for both groups. The incidence of chromosomal aberrations (particularly chromatid gaps and breaks) in the study group was significantly higher than in the control group. No effects of smoking were observed and breaks alone were found to be influenced by alcohol consumption. No significant correlation was detected between the working period in the group exposed to benzene and frequency of chromosomal aberrations. Benzene content was determined to be between 0 and 28.5% in eight kinds of glues studied by fractional distillation. Hexane content ranged between 0 and 68.35% using the same method. This study indicated that the content of benzene and hexane in the glues are above normal limits. PMID:9118912

  6. [Retrospective Cytogenetic Dose Evaluation. I. Chromosome Aberration Levels in Remote Periods after Acute External Exposure in Different Situations].

    PubMed

    Nugs, V Yu; Khvostunov, I K; Goloub, E V; Kozlova, M G; Nadejina, N M; Galstian, I A

    2015-01-01

    Cytogenetic analysis of peripheral blood lymphocyte cultures of 22 persons was performed in remote terms after acute external γ-, γ-β- or γ-neutron irradiation as a result of various accidents using the classical me- thod. The initial dose estimates were obtained using physical calculations, the method of measuring the EPR signal in tooth enamel, according to haematological and/or cytogenetic parameters. The purpose of this study was to obtain evidence about the state of the lymphocyte chromosome apparatus of people approxi- mately 17-50 years after an accidental radiation exposure. In general, elevated levels of chromosome aberra- tions were detected. An average correlation was observed between the atypical chromosome frequency and absorbed dose. It is proposed to use the obtained results in the future to explore the possibility of retrospective dose evaluation on the basis of a special computer program. PMID:26601536

  7. Cytogenetic and Molecular Analyses Reveal a Divergence between Acromyrmex striatus (Roger, 1863) and Other Congeneric Species: Taxonomic Implications

    PubMed Central

    Cristiano, Maykon Passos; Cardoso, Danon Clemes; Fernandes-Salomão, Tânia Maria

    2013-01-01

    The leafcutter ants, which consist of Acromyrmex and Atta genera, are restricted to the New World and they are considered the main herbivores in the neotropics. Cytogenetic studies of leafcutter ants are available for five species of Atta and 14 species of Acromyrmex, both including subspecies. These two ant genera have a constant karyotype with a diploid number of 22 and 38 chromosomes, respectively. The most distinct Acromyrmex species from Brazil is A. striatus, which is restricted to the southern states of Santa Catarina and Rio Grande do Sul. Several cytogenetic and phylogenetic studies have been conducted with ants, but the karyotypic characterization and phylogenetic position of this species relative to leafcutter ants remains unknown. In this study, we report a diploid number of 22 chromosomes for A. striatus. The phylogenetic relationship between A. striatus and other leafcutter ants was estimated based on the four nuclear genes. A. striatus shared the same chromosome number as Atta species and the majority of metacentric chromosomes. Nuclear data generated a phylogenetic tree with a well-supported cluster, where A. striatus formed a different clade from other Acromyrmex spp. This combination of cytogenetic and molecular approaches provided interesting insights into the phylogenetic position of A. striatus among the leafcutter ants and the tribe Attini. PMID:23527267

  8. Environmental genotoxicity evaluation using cytogenetic end points in wild rodents.

    PubMed Central

    de Souza Bueno, A M; de Bragança Pereira, C A; Rabello-Gay, M N

    2000-01-01

    We analyzed cytogenetic end points in three populations of two species of wild rodents--Akodon montensis and Oryzomys nigripes--living in an industrial, an agricultural, and a preservation area at the Itajaí Valley, state of Santa Catarina, Brazil. Our purpose was to evaluate the performance of the following end points in the establishment of a genotoxic profile of each area: the polychromatic/normochromatic cell ratio; the mitotic index; the frequency of micronucleated cells both in the bone marrow and peripheral blood; and the frequency of cells with chromosome aberrations in the bone marrow. Preparations were obtained using conventional cytogenetic techniques. The results showed a) the role of the end points used as biomarkers in the early detection of genotoxic agents and in the identification of species and populations at higher risk; b) the difference in sensitivity of the species selected as bioindicators in relation to the cytogenetic end points analyzed; c) the need to use at least two sympatric species to detect the presence of genotoxins in each locality; and d) the need to use several end points when trying to establish a genotoxic profile of an area. PMID:11133397

  9. Comparative cytogenetic analysis of eleven species of subfamilies Neoplecostominae and Hypostominae (Siluriformes: Loricariidae).

    PubMed

    Alves, Anderson Luís; Oliveira, Claudio; Foresti, Fausto

    2005-07-01

    The family Loricariidae with about 690 species divided into six subfamilies, is one of the world's largest fish families. Recent studies have shown the existence of several problems in the definition of natural groups in the family, which has made the characterization of the subfamilies and even of some genera quite difficult. With the main objective of contributing for a better understanding of the relationships between loricariids, cytogenetic analysis were conducted with two species of Neoplecostominae and nine species of Hypostominae that, according to morphological and molecular data, may belong to a new monophyletic unit. The results obtained showed a marked chromosomal conservation with the presence of 2n = 54 chromosomes and single interstitial Ag-NORs in all species analyzed. Considering that Neoplecostominae is the primitive sister-group of all other loricariids, with exception of Lithogeneinae, this karyotypic structure may represent the primitive condition for the family Loricariidae. The cytogenetic characteristics partaken by the species of Neoplecostominae and Hypostominae analyzed in the present study reinforce the hypothesis that the species of both these subfamilies might belong to a natural group. PMID:16134327

  10. Apigenin ameliorates gamma radiation-induced cytogenetic alterations in cultured human blood lymphocytes.

    PubMed

    Begum, Naziya; Prasad, N Rajendra; Kanimozhi, G; Hasan, Annie Q

    2012-08-30

    The aim of the present study was to assess the protective effect of apigenin, a dietary flavone, against cytogenetic alterations in human peripheral blood lymphocytes (HPBL) induced by Cobalt-60 radiation (3Gy). Results of MTT [3-(4, 5-dimethyl-2-thiaozolyl)-2,5-diphenyl-2H tetrazolium bromide] assay revealed that 37.2μM of apigenin was found to be non-toxic in HPBL. At this dose (37.2μM) of apigenin, the LD(50) radiation dose of HPBL increased from 2.9Gy to 3.4Gy, which resulted in a DMF of 1.17. Apigenin (37.2μM) treatment 1h before irradiation significantly (p<0.05) reduced DNA damage in irradiated HPBL as measured by comet assay (% tail DNA, tail length, tail moment, and olive tail moment). Moreover, apigenin treatment significantly decreased the frequencies of dicentric (DC), acentric fragments (AF), and acentric rings (AR) in irradiated HPBL. Apigenin pretreatment also reduced the radiation-induced CBMN (cytokinesis blocked micronuclei) anomalies such as micronuclei (MNi), nucleoplasmic bridges (NPB) and nuclear buds (NBUD) in HPBL. These results also showed that there was a significant correlation between NPB and DC frequencies and MNi and AF+AR. Treatment with apigenin alone had no significant effect on DNA damage and chromosomal aberrations in HPBL. Thus, the current studies indicate that apigenin protects HPBL from radiation-induced cytogenetic alterations. PMID:22516036

  11. Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations.

    PubMed Central

    Sullivan, B. A.; Jenkins, L. S.; Karson, E. M.; Leana-Cox, J.; Schwartz, S.

    1996-01-01

    Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian translocations retain ribosomal genes or beta-satellite DNA. Breakpoints in satellite III DNA, specifically between two chromosome 14-specific subfamilies, pTRS-47 and pTRS-63, have been indicated for most of the dicentric 14q21q and 13q14q translocations that have been studied. We have analyzed the structure of 36 dicentric translocations, using several repetitive DNA probes that localize to the acrocentric short arm. The majority of the translocations retained satellite III DNA, while others proved variable in structure. Of 10 14q21q translocations analyzed, satellite III DNA was undetected in 1; 6 retained one satellite III DNA subfamily, pTRS-47; and 3 appeared to contain two 14-specific satellite III DNA sub-families, pTRS-47 and pTRS-63. In 10/11 translocations involving chromosome 15, the presence of satellite III DNA was observed. Our results show that various regions of the acrocentric short arm, and, particularly, satellite III DNA sequences, are involved in the formation of Robertsonian translocations. Images Figure 1 Figure 2 Figure 4 Figure 5 Figure 6 PMID:8659523

  12. Cytogenetic damage in workers from a coal-fired power plant.

    PubMed

    Celik, Mustafa; Donbak, Lale; Unal, Fatma; Yüzbasioglu, Deniz; Aksoy, Hüseyin; Yilmaz, Serkan

    2007-03-01

    The aim of this study was to investigate the genotoxic risk to workers occupationally exposed to coal combustion products in Afsin-Elbistan A power plant, located in south-eastern Turkey. We analysed chromosomal aberrations (CAs), polyploidy, sister-chromatid exchanges (SCEs), and micronuclei (MN) in 48 male workers without a history of smoking, tobacco chewing, or alcohol consumption. The results were compared with a control group of 30 healthy male individuals without exposure to any known genotoxic agents. The mean frequencies of CA, polyploidy, SCEs (P<0.01), and MN (P<0.05) were significantly higher in workers than in the control group, by the Mann-Whitney U-test. Spearman's rho correlation analysis revealed a significant increase in the frequency of CA and MN with increasing years of exposure (P<0.05). However, there was no significant effect of age on the cytogenetic markers analysed in both groups (P>0.05). The data obtained from this study clearly showed chromosomal hazard in the peripheral lymphocytes of workers exposed to coal combustion products in Afsin-Elbistan A power plant for several years. This cytogenetic damage might be attributed to the cumulative effects of several substances due to chemical complexity of the coal ash and gaseous emissions rather than a specific substance. PMID:17178253

  13. Cytogenetic monitoring of coal workers and patients with coal workers' pneumoconiosis in Turkey

    SciTech Connect

    Ulker, O.C.; Ustundag, A.; Duydu, Y.; Yucesoy, B.; Karakaya, A.

    2008-04-15

    Occupational exposure to coal dust causes coal workers' pneumoconiosis (CWP), which is a chronic inflammatory and fibrotic lung disease. Recently, chronic inflammation has been accepted as a crucial factor in the pathogenesis of neoplasia. The chronic inflammation provides dynamic setting for oxidative stress and formation of free radicals. Interaction of reactive oxygen species (ROS) with DNA augments the likelihood of DNA structural and transcriptional errors. The purpose of this study was to investigate the genotoxic risk in pneumoconiotic patients and in those with occupational exposure to coal dust. Therefore, sister chromatid exchange (SCE) and micronucleus (MN) tests were performed in Turkish CWP patients, coal workers, and an unexposed control group. Both SCE and MN frequencies in CWP patients were found significantly higher than in coal worker and unexposed groups. There were no differences between SCE and MN frequencies of coal worker and unexposed groups. On the other hand, no correlation between SCE frequency, duration of exposure, and age was observed in all three groups. There was also no effect of smoking on the frequencies of SCE and MN in the groups. Based on these results, it might be suggested that development of CWP leads to a significant induction of cytogenetic damage in peripheral lymphocytes of CWP patients. This is the first report on CWP patients with elevated cytogenetic endpoints. Further, a larger follow-up study is warranted.

  14. Highly distinct chromosomal structures in cowpea (Vigna unguiculata), as revealed by molecular cytogenetic analysis.

    PubMed

    Iwata-Otsubo, Aiko; Lin, Jer-Young; Gill, Navdeep; Jackson, Scott A

    2016-05-01

    Cowpea (Vigna unguiculata (L.) Walp) is an important legume, particularly in developing countries. However, little is known about its genome or chromosome structure. We used molecular cytogenetics to characterize the structure of pachytene chromosomes to advance our knowledge of chromosome and genome organization of cowpea. Our data showed that cowpea has highly distinct chromosomal structures that are cytologically visible as brightly DAPI-stained heterochromatic regions. Analysis of the repetitive fraction of the cowpea genome present at centromeric and pericentromeric regions confirmed that two retrotransposons are major components of pericentromeric regions and that a 455-bp tandem repeat is found at seven out of 11 centromere pairs in cowpea. These repeats likely evolved after the divergence of cowpea from common bean and form chromosomal structure unique to cowpea. The integration of cowpea genetic and physical chromosome maps reveals potential regions of suppressed recombination due to condensed heterochromatin and a lack of pairing in a few chromosomal termini. This study provides fundamental knowledge on cowpea chromosome structure and molecular cytogenetics tools for further chromosome studies. PMID:26758200

  15. Detection of cryptic Y chromosome mosaicism by coamplification PCR with archived cytogenetic slides of suspected Turner syndrome.

    PubMed

    Kim, J W; Cho, E H; Kim, Y M; Kim, J M; Han, J Y; Park, S Y

    2000-03-31

    Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined. Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients. PMID:10762060

  16. Ultraviolet Radiation-Induced Cytogenetic Damage in White, Hispanic and Black Skin Melanocytes: A Risk for Cutaneous Melanoma

    PubMed Central

    Dasgupta, Amrita; Katdare, Meena

    2015-01-01

    Cutaneous Melanoma (CM) is a leading cause of cancer deaths, with reports indicating a rising trend in the incidence rate of melanoma among Hispanics in certain U.S. states. The level of melanin pigmentation in the skin is suggested to render photoprotection from the DNA-damaging effects of Ultraviolet Radiation (UVR). UVR-induced DNA damage leads to cytogenetic defects visualized as the formation of micronuclei, multinuclei and polymorphic nuclei in cells, and a hallmark of cancer risk. The causative relationship between Sun exposure and CM is controversial, especially in Hispanics and needs further evaluation. This study was initiated with melanocytes from White, Hispanic and Black neonatal foreskins which were exposed to UVR to assess their susceptibility to UVR-induced modulation of cellular growth, cytogenetic damage, intracellular and released melanin. Our results show that White and Hispanic skin melanocytes with similar levels of constitutive melanin are susceptible to UVR-induced cytogenetic damage, whereas Black skin melanocytes are not. Our data suggest that the risk of developing UVR-induced CM in a skin type is correlated with the level of cutaneous pigmentation and its ethnic background. This study provides a benchmark for further investigation on the damaging effects of UVR as risk for CM in Hispanics. PMID:26287245

  17. Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

    PubMed Central

    Kumar, Manoj; Kumar, Rakesh; Tanwar, Mukesh; Ghose, Supriyo; Kaur, Jasbir; Dada, Rima

    2011-01-01

    Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution. PMID:21765846

  18. [Cytogenetic analysis of alloplasmic recombinant lines (H. vulgare)-T. aestivum with unstable fertility and viability].

    PubMed

    Badaeva, E D; Pershina, L A; Bil'danova, L L

    2006-02-01

    Comparative cytogenetic analysis was performed with four alloplasmic recombinant (Hordeum vulgare)-Triticum aestivum lines differing in morphological traits, number of seeds per spike, and seed plumpness. None of the lines displayed introgression of the barley genetic material: the karyotypes included only common wheat chromosomes. Two lines, 79(B) and 79(D), were cytogenetically stable. Plants of lines 79(A) and 79(C) displayed a high frequency of unbalanced chromosome aberrations, including dicentric and polycentric chromosomes, terminal deletions varying in size, acentric fragments, and multiple unidentifiable translocations. Previous studies of the mitochondrial genome showed that the two cytologically unstable lines, which were also unstable in fertility and viability, are characterized by heteroplasmy at the mitochondrial 18S-5S locus (simultaneous presence of barley and wheat fragments). Stable lines 79(B) and 79(D) with normal fertility contained only wheat mitochondrial markers. It was assumed that the substantial instability of the nuclear genome in lines 79(C) and 79(A) was a result of nuclear-cytoplasmic incompatibility and was associated with heteroplasmy, while elimination or considerable reduction of barley material in the mitochondrial genome stabilized the nuclear genome of lines 79(B) and 79(D). In turn, the instability of the nuclear genome was responsible for a decrease in viability and fertility of plants. PMID:16583704

  19. Contributions to cytogenetics of Plectranthus barbatus Andr. (Lamiaceae): a medicinal plant

    PubMed Central

    Reis, Aryane Campos; Viccini, Lyderson Facio; de Sousa, Saulo Marçal

    2015-01-01

    Abstract Accessions of Plectranthus barbatus (Lamiaceae), a medicinal plant, were investigated using a cytogenetic approach and flow cytometry (FCM). Here, we describe for the first time details of the karyotype including chromosome morphology, physical mapping of GC rich bands (CMA3 banding), as well as the mapping of 45S and 5S rDNA sites. All accessions studied showed karyotypes with 2n = 30 small metacentric and submetacentric chromosomes. The CMA3 banding and fluorescent in situ hybridization techniques revealed coincidence between CMA3 bands and 45S rDNA sites (6 terminal marks) while for the 5S rDNA were observed 4 subterminal marks no coincident with CMA3 marks. For nuclear genome size measurement, the FCM procedure provided histograms with G0/G1 peaks exhibiting CV between 2.0–4.9 and the mean values obtained for the species was 2C = 2.78 pg, with AT% = 61.08 and GC% = 38.92. The cytogenetic data obtained here present new and important information which enables the characterization of Plectranthus barbatus. PMID:26312133

  20. Cytogenetic Diversity of Simple Sequences Repeats in Morphotypes of Brassica rapa ssp. chinensis

    PubMed Central

    Zheng, Jin-shuang; Sun, Cheng-zhen; Zhang, Shu-ning; Hou, Xi-lin; Bonnema, Guusje

    2016-01-01

    A significant fraction of the nuclear DNA of all eukaryotes is comprised of simple sequence repeats (SSRs). Although these sequences are widely used for studying genetic variation, linkage mapping and evolution, little attention had been paid to the chromosomal distribution and cytogenetic diversity of these sequences. In this paper, we report the distribution characterization of mono-, di-, and tri-nucleotide SSRs in Brassica rapa ssp. chinensis. Fluorescence in situ hybridization was used to characterize the cytogenetic diversity of SSRs among morphotypes of B. rapa ssp. chinensis. The proportion of different SSR motifs varied among morphotypes of B. rapa ssp. chinensis, with tri-nucleotide SSRs being more prevalent in the genome of B. rapa ssp. chinensis. We determined the chromosomal locations of mono-, di-, and tri-nucleotide repeat loci. The results showed that the chromosomal distribution of SSRs in the different morphotypes is non-random and motif-dependent, and allowed us to characterize the relative variability in terms of SSR numbers and similar chromosomal distributions in centromeric/peri-centromeric heterochromatin. The differences between SSR repeats with respect to abundance and distribution indicate that SSRs are a driving force in the genomic evolution of B. rapa species. Our results provide a comprehensive view of the SSR sequence distribution and evolution for comparison among morphotypes B. rapa ssp. chinensis. PMID:27507974

  1. Cytogenetic Diversity of Simple Sequences Repeats in Morphotypes of Brassica rapa ssp. chinensis.

    PubMed

    Zheng, Jin-Shuang; Sun, Cheng-Zhen; Zhang, Shu-Ning; Hou, Xi-Lin; Bonnema, Guusje

    2016-01-01

    A significant fraction of the nuclear DNA of all eukaryotes is comprised of simple sequence repeats (SSRs). Although these sequences are widely used for studying genetic variation, linkage mapping and evolution, little attention had been paid to the chromosomal distribution and cytogenetic diversity of these sequences. In this paper, we report the distribution characterization of mono-, di-, and tri-nucleotide SSRs in Brassica rapa ssp. chinensis. Fluorescence in situ hybridization was used to characterize the cytogenetic diversity of SSRs among morphotypes of B. rapa ssp. chinensis. The proportion of different SSR motifs varied among morphotypes of B. rapa ssp. chinensis, with tri-nucleotide SSRs being more prevalent in the genome of B. rapa ssp. chinensis. We determined the chromosomal locations of mono-, di-, and tri-nucleotide repeat loci. The results showed that the chromosomal distribution of SSRs in the different morphotypes is non-random and motif-dependent, and allowed us to characterize the relative variability in terms of SSR numbers and similar chromosomal distributions in centromeric/peri-centromeric heterochromatin. The differences between SSR repeats with respect to abundance and distribution indicate that SSRs are a driving force in the genomic evolution of B. rapa species. Our results provide a comprehensive view of the SSR sequence distribution and evolution for comparison among morphotypes B. rapa ssp. chinensis. PMID:27507974

  2. Karyotypic conservatism in five species of Prochilodus (Characiformes, Prochilodontidae) disclosed by cytogenetic markers

    PubMed Central

    Voltolin, Tatiana Aparecida; Penitente, Manolo; Mendonça, Bruna Bueno; Senhorini, José Augusto; Foresti, Fausto; Porto-Foresti, Fábio

    2013-01-01

    The family Prochilodontidae is considered a group with well conserved chromosomes characterized by their number, morphology and banding patterns. Thence, our study aimed at accomplishing a cytogenetic analysis with conventional methods (Giemsa staining, silver staining of the nucleolus organizer regions-AgNOR, and C-banding) and fluorescence in situ hybridization (FISH) with 18S and 5S ribosomal DNA probes in five species of the Prochilodus genus (Prochilodus argenteus, Prochilodus brevis, Prochilodus costatus, Prochilodus lineatus and Prochilodus nigricans) collected from different Brazilian hydrographic basins. The results revealed conservatism in chromosome number, morphology, AgNORs 18S and 5S rDNAs location and constitutive heterochromatin distribution patterns. The minor differences observed in this work, such as an Ag-NOR on a P. argenteus chromosome and a distinct C-banding pattern in P. lineatus, are not sufficient to question the conservatism described for this group. Future work using repetitive DNA sequences as probes for FISH will be interesting to further test the cytogenetic conservatism in Prochilodus. PMID:24130441

  3. A somatic cell hybrid panel for pig regional gene mapping characterized by molecular cytogenetics.

    PubMed

    Yerle, M; Echard, G; Robic, A; Mairal, A; Dubut-Fontana, C; Riquet, J; Pinton, P; Milan, D; Lahbib-Mansais, Y; Gellin, J

    1996-01-01

    A panel of 27 pig x rodent somatic cell hybrids was produced and characterized cytogenetically. The first step of this study consisted of hybridizing a SINE probe to GTG-banded metaphases of each hybrid clone in order to count and identify the normal pig chromosomes and to detect rearranged ones. The second step consisted of using the DNA of each clone as a probe after pIRS-PCR (porcine interspersed repetitive sequence-polymerase chain reaction) amplification to highly enrich it in pig sequences. These probes, hybridized to normal pig metaphase chromosomes, enabled the identification of the complete porcine complement in the hybrid lines. Whole chromosomes and fragments were characterized quickly and precisely, and results were compared. In addition to this cytogenetic characterization, molecular verification was also carried out by using primers specific to six microsatellites and to one gene previously mapped to pig chromosomes. The results obtained allow us to conclude that we have produced a panel that is informative for all porcine chromosomes. This panel constitutes a highly efficient tool to establish not only assignments of genes and markers but also regional localizations on pig chromosomes. PMID:8697807

  4. Detection of chromosomal changes in chronic lymphocytic leukemia using classical cytogenetic methods and FISH: application of rich mitogen mixtures for lymphocyte cultures.

    PubMed

    Koczkodaj, Dorota; Popek, Sylwia; Zmorzyński, Szymon; Wąsik-Szczepanek, Ewa; Filip, Agata A

    2016-04-01

    One of the research methods of prognostic value in chronic lymphocytic leukemia (CLL) is cytogenetic analysis. This method requires the presence of appropriate B-cell mitogens in cultures in order to obtain a high mitotic index. The aim of our research was to determine the most effective methods of in vitro B-cell stimulation to maximize the number of metaphases from peripheral blood cells of patients with CLL for classical cytogenetic examination, and then to correlate the results with those obtained using fluorescence in situ hybridization (FISH). The study group involved 50 consecutive patients with CLL. Cell cultures were maintained with the basic composition of culture medium and addition of respective stimulators. We used the following stimulators: Pokeweed Mitogen (PWM), 12-O-tetradecanoylphorbol 13-acetate (TPA), ionophore, lipopolysaccharide (LPS), and CpG-oligonucleotide DSP30. We received the highest mitotic index when using the mixture of PWM+TPA+I+DSP30. With classical cytogenetic tests using banding techniques, numerical and structural aberrations of chromosomes were detected in 46 patients, and no change was found in only four patients. Test results clearly confirmed the legitimacy of using cell cultures enriched with the mixture of cell stimulators and combining classical cytogenetic techniques with the FISH technique in later patient diagnosing. PMID:26956786

  5. High-Resolution Single-Copy Gene Fluorescence in Situ Hybridization and Its Use in the Construction of a Cytogenetic Map of Maize Chromosome 9[W

    PubMed Central

    Wang, Chung-Ju Rachel; Harper, Lisa; Cande, W. Zacheus

    2006-01-01

    High-resolution cytogenetic maps provide important biological information on genome organization and function, as they correlate genetic distance with cytological structures, and are an invaluable complement to physical sequence data. The most direct way to generate a cytogenetic map is to localize genetically mapped genes onto chromosomes by fluorescence in situ hybridization (FISH). Detection of single-copy genes on plant chromosomes has been difficult. In this study, we developed a squash FISH procedure allowing successful detection of single-copy genes on maize (Zea mays) pachytene chromosomes. Using this method, the shortest probe that can be detected is 3.1 kb, and two sequences separated by ∼100 kb can be resolved. To show the robust nature of this protocol, we localized nine genetically mapped single-copy genes on chromosome 9 in one FISH experiment. Integration of existing information from genetic maps and the BAC contig-based physical map with the cytological structure of chromosome 9 provides a comprehensive cross-referenced cytogenetic map and shows the dramatic reduction of recombination in the pericentromeric heterochromatic region. To establish a feasible mapping system for maize, we also developed a probe cocktail for unambiguous identification of the 10 maize pachytene chromosomes. These results provide a starting point toward constructing a high-resolution integrated cytogenetic map of maize. PMID:16461583

  6. Cytogenetic Profile of Down Syndrome Cases Seen by a General Genetics Outpatient Service in Brazil

    ERIC Educational Resources Information Center

    Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika

    2009-01-01

    Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

  7. Dysregulation of apoptotic death in the pathogenesis of virus-induced cytogenetic instability of blood lymphocytes.

    PubMed

    Ryazantseva, N V; Novitskii, V V; Zhukova, O B; Radzivil, T T; Mikheev, S L; Chechina, O E; Zima, A P; Shilov, B V

    2006-05-01

    The cytogenetic status and activity of regulatory systems for stability of the cell genome were evaluated in patients with chronic viral persistence. Hepatitis B and C viruses damage the chromosome apparatus of peripheral blood lymphocytes. Cytogenetic instability of immunocompetent cells during chronic viral infection was associated with inhibition of DNA excision repair system and dysregulation of apoptosis in target cells. PMID:17181065

  8. 40 CFR 798.5385 - In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... report. In addition to the reporting recommendations as specified under 40 CFR part 792, subpart J the... cytogenetics tests: Chromosomal analysis. 798.5385 Section 798.5385 Protection of Environment ENVIRONMENTAL... Genetic Toxicity § 798.5385 In vivo mammalian bone marrow cytogenetics tests: Chromosomal analysis....

  9. Methylphenidate and Amphetamine Do Not Induce Cytogenetic Damage in Lymphocytes of Children with ADHD

    ERIC Educational Resources Information Center

    Witt, Kristine L.; Shelby, Michael D.; Itchon-Ramos, Nilda; Faircloth, Melissa; Kissling, Grace E.; Chrisman, Allan K.; Ravi, Hima; Murli, Hemalatha; Mattison, Donald R.; Kollins, Scott H.

    2008-01-01

    The inducement of chromosomal damage in lymphocytes among children with attention deficit hyperactivity disorder receiving treatment with methylphenidate- or amphetamine-based drugs is investigated. Findings did not reveal significant increases in cytogenetic damage related to the treatment. The risk for cytogenetic damage posed by such products…

  10. Nanotechnology and molecular cytogenetics: the future has not yet arrived

    PubMed Central

    Ioannou, Dimitris; Griffin, Darren K.

    2010-01-01

    Quantum dots (QDs) are a novel class of inorganic fluorochromes composed of nanometer-scale crystals made of a semiconductor material. They are resistant to photo-bleaching, have narrow excitation and emission wavelengths that can be controlled by particle size and thus have the potential for multiplexing experiments. Given the remarkable optical properties that quantum dots possess, they have been proposed as an ideal material for use in molecular cytogenetics, specifically the technique of fluorescent in situ hybridisation (FISH). In this review, we provide an account of the current QD-FISH literature, and speculate as to why QDs are not yet optimised for FISH in their current form. PMID:22110858

  11. Cytogenetic changes induced by aqueous ferrofluids in agricultural plants

    NASA Astrophysics Data System (ADS)

    Răcuciu, Mihaela; Creangă, Dorina

    2007-04-01

    In this paper, the authors present their results regarding the cellular division rate and the percentage of chromosomal aberrations in the root meristematic cells of agricultural plants when cultivated in the presence of different concentrations of aqueous ferrofluid, ranging between 10 and 250 μL/L. The agricultural species ( Zea mays) with a major role in the life of people was chosen for the experimental project. The water-based ferrofluid was prepared following the chemical co-precipitation method, using tetramethylammonium hydroxide as magnetite core stabilizer. Microscopic investigations (cytogenetic tests) resulted in the evaluation of the mitotic and chromosomal aberration index. They appeared to increase following ferrofluid addition.

  12. New Comprehensive Cytogenetic Scoring System for Primary Myelodysplastic Syndromes (MDS) and Oligoblastic Acute Myeloid Leukemia After MDS Derived From an International Database Merge

    PubMed Central

    Schanz, Julie; Tüchler, Heinz; Solé, Francesc; Mallo, Mar; Luño, Elisa; Cervera, José; Granada, Isabel; Hildebrandt, Barbara; Slovak, Marilyn L.; Ohyashiki, Kazuma; Steidl, Christian; Fonatsch, Christa; Pfeilstöcker, Michael; Nösslinger, Thomas; Valent, Peter; Giagounidis, Aristoteles; Aul, Carlo; Lübbert, Michael; Stauder, Reinhard; Krieger, Otto; Garcia-Manero, Guillermo; Faderl, Stefan; Pierce, Sherry; Le Beau, Michelle M.; Bennett, John M.; Greenberg, Peter; Germing, Ulrich; Haase, Detlef

    2012-01-01

    Purpose The karyotype is a strong independent prognostic factor in myelodysplastic syndromes (MDS). Since the implementation of the International Prognostic Scoring System (IPSS) in 1997, knowledge concerning the prognostic impact of abnormalities has increased substantially. The present study proposes a new and comprehensive cytogenetic scoring system based on an international data collection of 2,902 patients. Patients and Methods Patients were included from the German-Austrian MDS Study Group (n = 1,193), the International MDS Risk Analysis Workshop (n = 816), the Spanish Hematological Cytogenetics Working Group (n = 849), and the International Working Group on MDS Cytogenetics (n = 44) databases. Patients with primary MDS and oligoblastic acute myeloid leukemia (AML) after MDS treated with supportive care only were evaluated for overall survival (OS) and AML evolution. Internal validation by bootstrap analysis and external validation in an independent patient cohort were performed to confirm the results. Results In total, 19 cytogenetic categories were defined, providing clear prognostic classification in 91% of all patients. The abnormalities were classified into five prognostic subgroups (P < .001): very good (median OS, 61 months; hazard ratio [HR], 0.5; n = 81); good (49 months; HR, 1.0 [reference category]; n = 1,809); intermediate (26 months; HR, 1.6; n = 529); poor (16 months; HR, 2.6; n = 148); and very poor (6 months; HR, 4.2; n = 187). The internal and external validations confirmed the results of the score. Conclusion In conclusion, these data should contribute to the ongoing efforts to update the IPSS by refining the cytogenetic risk categories. PMID:22331955

  13. CYTOGENETIC ANALYSES OF MICE EXPOSED TO DICHLOROMETHANE

    EPA Science Inventory

    Chromosome damage was studied in female B6C3F1 mice exposed to dichloromethane (DCM) by subcutaneous or inhalation treatments. o increase in either the frequencies of sister chromatid exchanges (SCEs) or chromosome aberrations (CAs) in bone marrow cells was observed after a singl...

  14. Progress in Cytogenetics: Implications for Child Psychopathology

    ERIC Educational Resources Information Center

    Hoffman, Ellen J.; State, Matthew W.

    2010-01-01

    Objective: This review considers the impact of chromosomal studies on the understanding of childhood neuropsychiatric syndromes, highlighting key discoveries, advances in technology, and new challenges faced by clinicians trying to interpret recent findings. Method: We review the literature on the genetics of child psychiatric disorders, including…

  15. [Cytogenetic indices for somatic mutagenesis in mammals exposed to chronic low-dose irradiation].

    PubMed

    Kostenko, S A; Ermakova, O V; Sushko, S N; Fyedorova, E V; Dzhus, P P; Baschlykova, L A; Kurylenko, Yu F; Raskosha, O V; Savin, A O; Shaforost, A S

    2015-01-01

    We used cytogenetic analysis in the studies of the biological effects of a radiation factor of natural and artificial origin (under conditions ofthe 30-km exclusion zone ofthe Chernobyl experimental landfills in Ukraine, Belarus and Russia). The studies have been performed on various types of mammals: domestic animals--cows, pigs, horses and rodents--root voles, the Af mouse line, and yellow necked field mouse, bank voles. We found significant changes in the level of MN and chromosomal aberrations in the animals that were exposed to the conditions of chronic low-dose radiation for a long time (bothin the habitat and upon exposure in the Chernobyl zone) regardless of the type of animal and nature of contamination. PMID:25962274

  16. Comparative cytogenetic analysis of four species of Dendropsophus (Hylinae) from the Brazilian Atlantic forest.

    PubMed

    De Oliveira, Igor Soares; Noleto, Rafael Bueno; Oliveira, Adriele Karlokoski Cunha De; Toled, Luís Felipe; Cestari, Marta Margarete

    2016-06-01

    We conducted a cytogenetic study of four hyline frog species (Dendropsophus elegans, D. microps, D. minutus and D. werneri) from southern Brazil. All species had 2n = 30 chromosomes, with interspecific and intraspecific variation in the numbers of metacentric, submetacentric, subtelocentric and telocentric chromosomes. C-banding and fluorochrome staining revealed conservative GC-rich heterochromatin localized in the pericentromeric regions of all species. The location of the nucleolus organizer regions, as confirmed by fluorescent in situ hybridization, differed between species. Telomeric probes detected sites that were restricted to the terminal regions of all chromosomes and no interstitial or centromeric signals were observed. Our study corroborates the generic synapomorphy of 2n = 30 chromosomes for Dendropsophus and adds data that may become useful for future taxonomic revisions and a broader understanding of chromosomal evolution among hylids. PMID:27350679

  17. Molecular Cytogenetics of Human Single Pronucleated Zygotes

    PubMed Central

    Azevedo, Ana Raquel; Pinho, Maria João; Silva, Joaquina; Sá, Rosália; Thorsteinsdóttir, Sólveig; Barros, Alberto

    2014-01-01

    The aim of the present study was to use fluorescence in situ hybridization to analyze the chromosome status of zygotes with a single pronucleus from in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) treatment cycles. In addition, we performed immunocytochemical detection of nuclear lamins and histone H3 trimethylated at lysine-9, Me(3)H3K9. Zygotes were processed 24 hours after insemination or injection to assure the absence of asynchrony. In opposition to previous results, we observed 2 pronuclei in 16 of 18 IVF zygotes and 40 of 64 ICSI zygotes, suggesting premature pronuclear breakdown. In IVF and ICSI zygotes, the rate of normal diploidy was only 6 of 16 and 27 of 56, respectively, suggesting that monopronucleated zygotes should not be used in assisted reproductive treatments. The possible mechanisms are discussed and compared to previous studies of monopronucleated zygotes. PMID:24717739

  18. The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes

    PubMed Central

    Cada, Michaela; Segbefia, Catherin I.; Klaassen, Robert; Fernandez, Conrad V.; Yanofsky, Rochelle A.; Wu, John; Pastore, Yves; Silva, Mariana; Lipton, Jeffrey H.; Brossard, Josee; Michon, Bruno; Abish, Sharon; Steele, MacGregor; Sinha, Roona; Belletrutti, Mark; Breakey, Vicky; Jardine, Lawrence; Goodyear, Lisa; Sung, Lillian; Shago, Mary; Beyene, Joseph; Sharma, Preeti; Zlateska, Bozana; Dror, Yigal

    2015-01-01

    Inherited bone marrow failure syndromes are a group of rare, heterogeneous genetic disorders with a risk of clonal and malignant myeloid transformation including clonal marrow cytogenetic abnormalities, myelodysplastic syndrome and acute myeloid leukemia. The clinical characteristics, risk classification, prognostic factors and outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure syndromes are largely unknown. The aims of this study were to determine the impact of category, cytopathology and cytogenetics, the three components of the “Category Cytology Cytogenetics” classification of pediatric myelodysplastic syndrome, on the outcome of clonal and malignant myeloid transformation associated with inherited bone marrow failure. We used data from the Canadian Inherited Marrow Failure Registry. Among 327 patients with inherited bone marrow failure syndrome enrolled in the registry, the estimated risk of clonal and malignant myeloid transformation by the age of 18 years was 37%. The risk of clonal and malignant myeloid transformation varied according to the type of inherited bone marrow failure syndrome but was highest in Fanconi anemia. The development of clonal and malignant myeloid transformation significantly affected overall survival. Mortality varied based on cytopathological group. The largest group of patients had refractory cytopenia. Clonal marrow cytogenetic abnormalities were identified in 87% of patients with clonal and malignant myeloid transformation, and different cytogenetic groups had different impacts on disease progression. We conclude that category, cytopathology and cytogenetics in cases of clonal and malignant myeloid transformation associated with inherited bone marrow failure syndromes have an important impact on outcome and that the classification of such cases should incorporate these factors. PMID:25682607

  19. Cytogenetic Biodosimetry Using the Blood Lymphocytes of Astronauts

    NASA Technical Reports Server (NTRS)

    George, Kerry; Rhone, J.; Chappell, L. J.; Cucinotta, F. A.

    2010-01-01

    Cytogenetic analysis of blood lymphocytes remains the most sensitive and reliable method available for in vivo assessment of the biological effects of exposure to radiation and provides the most informative measurement of radiation induced health risks. To date chromosome damage has been assessed in lymphocytes from more than 30 astronauts before and after they participated in long-duration space missions of three months or more on board the International Space Station. For all individuals, the frequency of chromosome damage measured within a month of return from space was higher than their prefight yield and biodosimetry estimates lie within the range expected from physical dosimetry. Biodosimetry data provides a direct measurement of space radiation damage, which takes into account individual radiosensitivity in the presence of confounding factors such as microgravity and other stress conditions. In contrast to physical measurements, which are external to body and require multiple devices to detect all radiation types all of which have poor sensitivity to neutrons, biodosimetry is internal and includes the effects of shielding provided by the body itself plus chromosome damage shows excellent sensitivity to protons, heavy ions, and neutrons. In addition, chromosome damage is reflective of cancer risk and biodosimetry values can therefore be used to validate and develop risk assessment models that can be used to characterize excess health risk incurred by crewmembers. A review of astronaut biodosimetry data will be presented along with recent findings on the persistence of space radiation induced chromosome damage and the cytogenetic effects of repeat long duration missions

  20. Cytogenetic map of common bean (Phaseolus vulgaris L.)

    PubMed Central

    Fonsêca, Artur; Ferreira, Joana; dos Santos, Tiago Ribeiro Barros; Mosiolek, Magdalena; Bellucci, Elisa; Kami, James; Gepts, Paul; Geffroy, Valérie; Schweizer, Dieter; dos Santos, Karla G. B.

    2010-01-01

    A cytogenetic map of common bean was built by in situ hybridization of 35 bacterial artificial chromosomes (BACs) selected with markers mapping to eight linkage groups, plus two plasmids for 5S and 45S ribosomal DNA and one bacteriophage. Together with three previously mapped chromosomes (chromosomes 3, 4, and 7), 43 anchoring points between the genetic map and the cytogenetic map of the species are now available. Furthermore, a subset of four BAC clones was proposed to identify the 11 chromosome pairs of the standard cultivar BAT93. Three of these BACs labelled more than a single chromosome pair, indicating the presence of repetitive DNA in their inserts. A repetitive distribution pattern was observed for most of the BACs; for 38% of them, highly repetitive pericentromeric or subtelomeric signals were observed. These distribution patterns corresponded to pericentromeric and subtelomeric heterochromatin blocks observed with other staining methods. Altogether, the results indicate that around half of the common bean genome is heterochromatic and that genes and repetitive sequences are intermingled in the euchromatin and heterochromatin of the species. Electronic supplementary material The online version of this article (doi:10.1007/s10577-010-9129-8) contains supplementary material, which is available to authorized users. PMID:20449646

  1. Molecular cytogenetic diagnosis of Williams syndrome

    SciTech Connect

    Hirota, Hamao; Matsuoka, Rumiko; Kimura, Misa

    1996-08-23

    Williams syndrome (WS) is characterized by distinct facial changes, growth deficiency, mental retardation, and congenital heart defect (particularly supravalvular aortic stenosis), associated at times with infantile hypercalcemia. Molecular genetic studies have indicated that hemizygosity at the elastin locus (7q11.23) causes WS. The purpose of this study was to confirm that this regional deletion, involving the elastin locus, is the cause of WS in Japan, and to clarify the correlation between the phenotype and the elastin locus. Thirty-two patients with WS and thirty of their relatives were examined by fluorescent in situ hybridization (FISH), using the WS chromosome region (WSCR) probe. All patients had cardiovascular disease (100%), 30 had typical WS facial changes (94%), 31 had mental retardation or developmental delay (97%), 16 were small-for-date at birth (50%), 14 had short stature (44%), and 13 had dental anomalies (41%). No relatives showed any manifestation of WS. Hemizygosity for a region of 7q11.23, involving the elastin locus, was found in all WS patients, but was not found in the 30 relatives. 22 refs., 4 figs., 1 tab.

  2. Cytogenetic characterization of three cell lines derived from primary cervical tumors of different histologic grade

    SciTech Connect

    Hann, E.; Beauregard, L.; Mikumo, R.

    1994-09-01

    Braum et al.(1993) established three cell lines from keratinizing and nonkeratinizing cervical carcinomas. These cell lines were subsequently analyzed for growth properties and the physical state of the human papillomavirus type 16 genome. TC140, derived from a keratinizing cervical tumor, contains human papillomavirus type 16 in the episomal state. TC-146A and TC-146B, derived from a nonkeratinizing large-cell cervical carcinoma, contain human papillomavirus type 16 in the integrated state. The goal of the present study was to cytogenetically characterize these cell lines, developed from cervical carcinoma with a defined histopathology, in order to shed additional light on the biological basis of the histological and clinical heterogeneity of cervical cancers. Information on solid tumors has been limited because they are often difficult to culture and the karyotypes on the available metaphases are often complex with unidentifiable markers. The chromosomes of these three cell lines were characterized in the present study using GTG-banding. For cell line 140, the most striking chromosomal abnormalities noted were the presence of an i(5p) or i(12p) marker, an isochromosome 8q marker and multiple copies of chromosome 9. For cell line 146A, the most notable chromosomal abnormalities noted were the presence of a marker chromosome 7 with additional materials present on the long arms, an isochomosome of the long arms of chromosome 8 and a question of chromosome 19 markers. For cell line 146B, the most notable chromosomal abnormalities were found to be a deleted X chromosome, a marker chromosome 7 with additional material on the long arm, an isochromosome 8q marker, and isochromosome 16q marker and one or more copies of an isochromosome 17q marker. Fluorescent in situ hybridization experiments performed using select probes further corroborate the results of the above-mentioned conventional cytogenetic studies.

  3. Cytogenetic analysis of human somatic cell haploidization.

    PubMed

    Galat, V; Ozen, S; Rechitsky, S; Kuliev, A; Verlinsky, Y

    2005-02-01

    Despite recent interest in the derivation of female and male gametes through somatic cell nuclear transfer, there is still insufficient data on chromosomal analysis of these gametes resulting from haploidization, especially involving a human nuclear donor and recipient oocytes. The objective of this study was to investigate the fidelity of chromosomal separation during haploidization of human cumulus cells by in-vitro matured human enucleated MII oocytes. A total of 129 oocytes were tested 4-7, 8-14, or 15-21 h after nuclear transfer (NT) followed by electro-stimulation, resulting in 71.3% activation efficiency on average. Haploidization was documented by the formation of two separate groups of chromosomes, originating from either polar body/pronucleus (PB/PN), or only 2PN, which were tested by 5-colour FISH, or DNA analysis for copy number of chromosomes 13, 16, 18, 21, 22 and X. Two PN were formed more frequently than PB/PN, irrespective of incubation time. In agreement with recent reports on mouse oocytes, as many as 90.2% of the resulting haploid sets tested showed abnormal chromosome segregation, suggesting unsuitability of the resulting artificial gametes for practical application at the present time. PMID:15823223

  4. [Influence of Acetylcysteine on Cytogenetic Effects of Etoposide in Mouse Oocytes].

    PubMed

    Pligina, K L; Zhanataev, A K; Kulakova, A V; Chaika, Z V; Durnev, A D

    2016-02-01

    The influence of N-acetylcysteine (ACC) on the cytogenetic effects of etoposide in F1 CBA x C57BL/6 mice was studied. Etoposide introduced intraperitoneally in doses of 10, 20, 40, and 60 mg/kg has a dose-dependent clastogenic activity and has an aneugenic effect with the induction of mainly hypohaploid oocytes. ACC significantly decreases the aneugenic and clastogenic activity of etoposide (20 mg/kg) in oocytes of 6-, 9-, and 12-week-old mice during triple introduction at a dose 200 mg/kg per os. The most pronounced anticlastogenic ACC activity (an 80% decrease) was registered in 9-week-old females; a 100% decrease in aneugenesis was detected in 6-week-old female mice. PMID:27215036

  5. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13. 3

    SciTech Connect

    Nesslinger, N.J.; McDermid, H.E. ); Gorski, J.L. ); Kurczynski, T.W.; French, B.N. ); Shapira, S.K. ); Siegel-Bartelt, J. ); Dumanski, J.P.; Cullen, R.F. Jr. )

    1994-03-01

    The authors have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage analysis using a series of genetically mapped probes showed that the proximal breakpoints of the deletions varied over [approximately]13.8 cM, between loci D22S92 and D22S94. The most distally mapped locus, arylsulfatase A (ARSA), was deleted in all seven patients. Therefore, the smallest region of overlap (critical region) extends between locus D22S94 and a region distal to ARSA a distance of >25.5 cM. 38 rfs., 4 figs., 4 tabs.

  6. [Cytogenetic effects in Allium schoenoprasum growing on the anthropogenically contaminated soil].

    PubMed

    Belykh, E S; Maystrenko, T A

    2015-01-01

    Cytogenetic effects in Allium schoenoprasum meristematic root tip cells grown for a year on the territory contaminated with 235U, 238U and 232Th decay series radionuclides, heavy metals and As were studied. The area is characterized with different concentrations of chemical compounds in soil affecting a toxic element migration in biocoenosis. Analysis of the chromosome aberration spectrum showed an ambiguous cell response to soil contamination. Within the weighted absorbed dose range up to 1.2 Gy the higher the dose the aberrant cell frequency increase was shown. But further increase in the dose resulted in a genotoxic effect decrease due to high toxic effects of heavy metals and radionuclides in soil. This was registered as a mitotic index decrease that can provoke a chromosome aberration frequency underestimation and result in erroneous conclusions about genotoxic effects in A. schoenoprasum used as a bioindicator. PMID:25962271

  7. Molecular cytogenetic definition of the chicken genome: the first complete avian karyotype.

    PubMed Central

    Masabanda, Julio S; Burt, Dave W; O'Brien, Patricia C M; Vignal, Alain; Fillon, Valerie; Walsh, Philippa S; Cox, Helen; Tempest, Helen G; Smith, Jacqueline; Habermann, Felix; Schmid, Michael; Matsuda, Yoichi; Ferguson-Smith, Malcolm A; Crooijmans, Richard P M A; Groenen, Martien A M; Griffin, Darren K

    2004-01-01

    Chicken genome mapping is important for a range of scientific disciplines. The ability to distinguish chromosomes of the chicken and other birds is thus a priority. Here we describe the molecular cytogenetic characterization of each chicken chromosome using chromosome painting and mapping of individual clones by FISH. Where possible, we have assigned the chromosomes to known linkage groups. We propose, on the basis of size, that the NOR chromosome is approximately the size of chromosome 22; however, we suggest that its original assignment of 16 should be retained. We also suggest a definitive chromosome classification system and propose that the probes developed here will find wide utility in the fields of developmental biology, DT40 studies, agriculture, vertebrate genome organization, and comparative mapping of avian species. PMID:15082555

  8. Lack of Bystander Effects From High LET Radiation For Early Cytogenetic Endpoints.

    SciTech Connect

    Groesser, Torsten; Cooper, Brian; Rydberg, Bjorn

    2008-05-07

    The aim of this work was to study radiation-induced bystander effects for early cytogenetic end points in various cell lines using the medium transfer technique after exposure to high- and low-LET radiation. Cells were exposed to 20 MeV/ nucleon nitrogen ions, 968 MeV/nucleon iron ions, or 575 MeV/nucleon iron ions followed by transfer of the conditioned medium from the irradiated cells to unirradiated test cells. The effects studied included DNA double-strand break induction, {gamma}-H2AX focus formation, induction of chromatid breaks in prematurely condensed chromosomes, and micronucleus formation using DNA repair-proficient and -deficient hamster and human cell lines (xrs6, V79, SW48, MO59K and MO59J). Cell survival was also measured in SW48 bystander cells using X rays. Although it was occasionally possible to detect an increase in chromatid break levels using nitrogen ions and to see a higher number of {gamma}-H2AX foci using nitrogen and iron ions in xrs6 bystander cells in single experiments, the results were not reproducible. After we pooled all the data, we could not verify a significant bystander effect for any of these end points. Also, we did not detect a significant bystander effect for DSB induction or micronucleus formation in these cell lines or for clonogenic survival in SW48 cells. The data suggest that DNA damage and cytogenetic changes are not induced in bystander cells. In contrast, data in the literature show pronounced bystander effects in a variety of cell lines, including clonogenic survival in SW48 cells and induction of chromatid breaks and micronuclei in hamster cells. To reconcile these conflicting data, it is possible that the epigenetic status of the specific cell line or the precise culture conditions and medium supplements, such as serum, may be critical for inducing bystander effects.

  9. Comprehensive molecular cytogenetic investigation of chromosomal abnormalities in human medulloblastoma cell lines and xenograft.

    PubMed Central

    Aldosari, Naji; Wiltshire, Rodney N.; Dutra, Amalia; Schrock, Evelin; McLendon, Roger E.; Friedman, Henry S.; Bigner, Darell D.; Bigner, Sandra H.

    2002-01-01

    Cell lines and xenografts derived from medulloblastomas are useful tools to investigate the chromosomal changes in these tumors. Here we used G-banding, fluorescence in situ hybridization (FISH), spectral karyotyping (SKY), and comparative genomic hybridization to study 4 medulloblastoma cell lines and 1 xenograft. Cell line D-425 Med had a relatively simple karyotype, with a terminal deletion of 10q and amplification of MYC in double-minutes (dmins). FISH demonstrated that an apparent isochromosome (17q) by routine karyotyping was actually an unbalanced translocation between 2 copies of chromosome 17. Cell line D-556 Med also had a simple near-diploid stemline with an unbalanced 1;13 translocation resulting in a gain of 1q, an isochromosome (17q), and dmins. These findings were initially described using routine G-banded preparations, and FISH showed that the dmins were an amplification of MYC and the i(17q) was an isodicentric 17q chromosome. The other finding was confirmed by FISH, SKY, and comparative genomic hybridization. Cell lines D-721 Med and D-581 Med had complex karyotypic patterns that could be completely characterized only when FISH and SKY were used. Xenograft D-690 Med also had a complex pattern that FISH and SKY were helpful in completely elucidating. Interestingly, balanced reciprocal translocations were seen as well as complicated unbalanced translocations and marker chromosomes. Comparative genomic hybridization demonstrated only a deletion of 10q22-10q24, supporting the idea that despite the complexity of the chromosomal rearrangements, minimal alterations in the overall chromosomal content had occurred. This study demonstrates that routine cytogenetic preparations are adequate to describe chromosomal abnormalities in occasional medulloblastoma samples, but a broader spectrum of molecular cytogenetic methods is required to completely analyze most of these tumor samples. PMID:11916498

  10. Cytogenetics of the true bug infraorder Cimicomorpha (Hemiptera, Heteroptera): a review

    PubMed Central

    Kuznetsova, Valentina G.; Grozeva, Snejana M.; Nokkala, Seppo; Nokkala, Christina

    2011-01-01

    Abstract The Cimicomorpha is one of the largest and highly diversified infraorders of the Heteroptera. This group is also highly diversified cytogenetically and demonstrates a number of unusual cytogenetic characters such as holokinetic chromosomes; m-chromosomes; multiple sex chromosome systems; post-reduction of sex chromosomes in meiosis; variation in the presence/absence of chiasmata in spermatogenesis; different types of achiasmate meiosis. We present here a review of essential cytogenetic characters of the Cimicomorpha and outline the chief objectives and goals of future investigations in the field. PMID:22287915

  11. Mesenchymal stromal cells derived from acute myeloid leukemia bone marrow exhibit aberrant cytogenetics and cytokine elaboration

    PubMed Central

    Huang, J C; Basu, S K; Zhao, X; Chien, S; Fang, M; Oehler, V G; Appelbaum, F R; Becker, P S

    2015-01-01

    Bone marrow-derived mesenchymal stromal cells (BM-MSCs) play a fundamental role in the BM microenvironment (BME) and abnormalities of these cells may contribute to acute myeloid leukemia (AML) pathogenesis. The aim of the study was to characterize the cytokine and gene expression profile, immunophenotype and cytogenetics of BM-MSCs from AML patients compared to normal BM-MSCs from healthy donors. AML BM-MSCs showed decreased monocyte chemoattractant protein-1 levels compared to normal BM-MSCs. AML BM-MSCs expressed similar β1 integrin, CD44, CD73, CD90 and E-cadherin compared to normal BM-MSCs. Cytogenetic analysis revealed chromosomal aberrations in AML BM-MSCs, some overlapping with and others distinct from their corresponding AML blasts. No significant difference in gene expression was detected between AML BM-MSCs compared to normal BM-MSCs; however, comparing the differences between AML and MSCs from AML patients with the differences between normal hematopoietic cells and normal MSCs by Ingenuity pathway analysis showed key distinctions of the AML setting: (1) upstream gene regulation by transforming growth factor beta 1, tumor necrosis factor, tissue transglutaminase 2, CCAAT/enhancer binding protein alpha and SWItch/Sucrose NonFermentable related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; (2) integrin and interleukin 8 signaling as overrepresented canonical pathways; and (3) upregulation of transcription factors FBJ murine osteosarcoma viral oncogene homolog and v-myb avian myeloblastosis viral oncogene homolog. Thus, phenotypic abnormalities of AML BM-MSCs highlight a dysfunctional BME that may impact AML survival and proliferation. PMID:25860293

  12. Combined Molecular and Clinical Prognostic Index for Relapse and Survival in Cytogenetically Normal Acute Myeloid Leukemia

    PubMed Central

    Pastore, Friederike; Dufour, Annika; Benthaus, Tobias; Metzeler, Klaus H.; Maharry, Kati S.; Schneider, Stephanie; Ksienzyk, Bianka; Mellert, Gudrun; Zellmeier, Evelyn; Kakadia, Purvi M.; Unterhalt, Michael; Feuring-Buske, Michaela; Buske, Christian; Braess, Jan; Sauerland, Maria Cristina; Heinecke, Achim; Krug, Utz; Berdel, Wolfgang E.; Buechner, Thomas; Woermann, Bernhard; Hiddemann, Wolfgang; Bohlander, Stefan K.; Marcucci, Guido; Spiekermann, Karsten; Bloomfield, Clara D.; Hoster, Eva

    2014-01-01

    Purpose Cytogenetically normal (CN) acute myeloid leukemia (AML) is the largest and most heterogeneous cytogenetic AML subgroup. For the practicing clinician, it is difficult to summarize the prognostic information of the growing number of clinical and molecular markers. Our purpose was to develop a widely applicable prognostic model by combining well-established pretreatment patient and disease characteristics. Patients and Methods Two prognostic indices for CN-AML (PINA), one regarding overall survival (OS; PINAOS) and the other regarding relapse-free survival (RFS; PINARFS), were derived from data of 572 patients with CN-AML treated within the AML Cooperative Group 99 study (www.aml-score.org). Results On the basis of age (median, 60 years; range, 17 to 85 years), performance status, WBC count, and mutation status of NPM1, CEBPA, and FLT3-internal tandem duplication, patients were classified into the following three risk groups according to PINAOS and PINARFS: 29% of all patients and 32% of 381 responding patients had low-risk disease (5-year OS, 74%; 5-year RFS, 55%); 56% of all patients and 39% of responding patients had intermediate-risk disease (5-year OS, 28%; 5-year RFS, 27%), and 15% of all patients and 29% of responding patients had high-risk disease (5-year OS, 3%; 5-year RFS, 5%), respectively. PINAOS and PINARFS stratified outcome within European LeukemiaNet genetic groups. Both indices were confirmed on independent data from Cancer and Leukemia Group B/Alliance trials. Conclusion We have developed and validated, to our knowledge, the first prognostic indices specifically designed for adult patients of all ages with CN-AML that combine well-established molecular and clinical variables and that are easily applicable in routine clinical care. The integration of both clinical and molecular markers could provide a basis for individualized patient care through risk-adapted therapy of CN-AML. PMID:24711548

  13. Molecular cytogenetic detection of chromosome 15 deletions in patients with Prader-Willi and Angelman syndromes

    SciTech Connect

    Chadwick, D.E.; Weksberg, R.; Shuman, C.

    1994-09-01

    Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct genetic disorders involving alterations of chromosome 15q11-q13. Approximately 75% of individuals with PWS and AS have deletions within 15q11-q13 by molecular analysis. We have evaluated fluorescence in situ hybridization (FISH) for the clinical laboratory detection of del(15)(q11q13) using the cosmid probes D15S11 and GABRB3 (ONCOR, Gaithersburg, NY). 4/4 PWS and 1/1 AS patients previously identified as having cytogenetic deletions were deleted for both probes. In a prospectively ascertained series of 54 patient samples referred to rule out either PWS or AS, 8 were deleted for D15S11 and GABRB3. In addition, an atypical deletion patient with PWS was also identified who was found to be deleted for GABRB3 but not D15S11. The SNRPN locus was also deleted in this patient. Only 4 of the 9 patient samples having molecular cytogenetic deletions were clearly deleted by high resolution banding (HRB) analysis. The microscopic and submicroscopic deletions have been confirmed by dinucleotide (CA) repeat analysis. Microsatellite polymorphism analysis was also used to demonstrate that five non-deletion patients in this series had biparental inheritance of chromosome 15, including region q11-q13. Deletions were not detected by either HRB, FISH or microsatellite polymorphism analysis in samples obtained from parents of the deletion patients. Methylation studies of chromosome 15q11-q13 are in progress for this series of PWS and AS families. FISH analysis of chromosome 15q11-q13 in patients with PWS and AS is a rapid, sensitive and reliable method for deletion detection.

  14. Chromosome damage and cancer risk in the workplace: the example of cytogenetic surveillance in Croatia.

    PubMed

    Fucić, Aleksandra; Znaor, Ariana; Strnad, Marija; van der Hel, Olga; Aleksandrov, Anastasija; Miskov, Snjezana; Grah, Josip; Sedlar, Miljenko; Jazbec, Ana Marija; Ceppi, Marcello; Vermeulen, Roel; Boffetta, Paolo; Norppa, Hannu; Bonassi, Stefano

    2007-07-30

    The use of cytogenetic assays in the surveillance of populations occupationally exposed to genotoxic carcinogens originates from the assumption that chromosomal alterations might be causally involved in early stages of carcinogenesis. Historical cohort studies have since 1990s consistently reported an association between the level of chromosomal aberrations (CA) in peripheral lymphocytes of healthy subjects and the risk of cancer. Only in few cases, have these results been transformed into a regulatory tool for improving occupational safety. The cytogenetic surveillance program adopted for more than two decades in the Republic of Croatia is one of these few examples. Croatian workers exposed to genotoxic agents were systematically screened for CA, to identify occupational settings needing a priority intervention. Significant increases of mean CA frequency were observed in groups exposed to ionizing radiation, chemical agents, and mixed exposures when compared with a group of unexposed referents. CA data on 736 men and 584 women, monitored between 1987 and 2000, have been associated with cancer incidence. Although the small size of the cohort did not allow for reaching statistical significance, the medium tertile of the CA frequency distribution was associated with a doubling of cancer incidence rate ratio (IRR=2.40; 95% CI 0.85-6.77) when compared with the lowest tertile. For chromosome-type CA, IRR was non-significantly increased for both the medium (IRR 1.53, 95% CI 0.58-3.99) and high categories (IRR 1.69; 95% CI 0.61-4.72). Recommendations for future strategies comprise the inclusion of predictive biomarkers in surveillance programs, the definition of a regulatory framework, and their possible use for the identification of individual risk profiles. PMID:17651925

  15. Morphologic and cytogenetic differences between post-polycythemic myelofibrosis and primary myelofibrosis in fibrotic stage.

    PubMed

    Boiocchi, Leonardo; Mathew, Susan; Gianelli, Umberto; Iurlo, Alessandra; Radice, Tommaso; Barouk-Fox, Sharon; Knowles, Daniel M; Orazi, Attilio

    2013-12-01

    Polycythemia vera and primary myelofibrosis share a propensity to progress toward a myelofibrotic late stage with overlapping clinical characteristics. Bone marrow features potentially useful for distinguishing the two entities have not been thoroughly investigated and, currently, clinical history is used for purposes of disease classification. This study describes in detail the morphologic features of 23 cases of post-polycythemic myelofibrosis and 15 cases of primary myelofibrosis with a similar degree of fibrosis, from two large medical centers. Cytogenetic results were available in 19 post-polycythemic myelofibrosis and in 13 primary myelofibrosis cases. JAK2 status and follow-up information was available in all cases. Cellularity was increased in both groups, but more so in post-polycythemic myelofibrosis than in primary myelofibrosis. In post-polycythemic myelofibrosis, most megakaryocytes retained polycythemia vera-like features including normally folded and/or hyperlobulated nuclei devoid of severe maturation defects; only in a few cases were rare tight clusters present. In primary myelofibrosis cases, megakaryocytes showed pronounced anomalies, including increased nuclear:cytoplasmic ratio, abnormal clumping of chromatin and frequent tight clustering. No differences in blast number (<1%) or in the myeloid:erythroid ratio were observed. Post-polycythemic myelofibrosis showed a higher degree of karyotypic alterations and higher percentage of cases with complex karyotype and/or two or more clones. Chromosome 1 defects were common in post-polycythemic myelofibrosis, whereas isolated del(20q) was the most common alteration in primary myelofibrosis. No survival differences were noted between the two groups. Post-polycythemic myelofibrosis cases retain a distinct megakaryocytic morphology that represents a useful clue for differential diagnosis. In addition, they more often display a complex karyotype than do primary myelofibrosis cases. These results suggest

  16. Mesenchymal stromal cells derived from acute myeloid leukemia bone marrow exhibit aberrant cytogenetics and cytokine elaboration.

    PubMed

    Huang, J C; Basu, S K; Zhao, X; Chien, S; Fang, M; Oehler, V G; Appelbaum, F R; Becker, P S

    2015-01-01

    Bone marrow-derived mesenchymal stromal cells (BM-MSCs) play a fundamental role in the BM microenvironment (BME) and abnormalities of these cells may contribute to acute myeloid leukemia (AML) pathogenesis. The aim of the study was to characterize the cytokine and gene expression profile, immunophenotype and cytogenetics of BM-MSCs from AML patients compared to normal BM-MSCs from healthy donors. AML BM-MSCs showed decreased monocyte chemoattractant protein-1 levels compared to normal BM-MSCs. AML BM-MSCs expressed similar β1 integrin, CD44, CD73, CD90 and E-cadherin compared to normal BM-MSCs. Cytogenetic analysis revealed chromosomal aberrations in AML BM-MSCs, some overlapping with and others distinct from their corresponding AML blasts. No significant difference in gene expression was detected between AML BM-MSCs compared to normal BM-MSCs; however, comparing the differences between AML and MSCs from AML patients with the differences between normal hematopoietic cells and normal MSCs by Ingenuity pathway analysis showed key distinctions of the AML setting: (1) upstream gene regulation by transforming growth factor beta 1, tumor necrosis factor, tissue transglutaminase 2, CCAAT/enhancer binding protein alpha and SWItch/Sucrose NonFermentable related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; (2) integrin and interleukin 8 signaling as overrepresented canonical pathways; and (3) upregulation of transcription factors FBJ murine osteosarcoma viral oncogene homolog and v-myb avian myeloblastosis viral oncogene homolog. Thus, phenotypic abnormalities of AML BM-MSCs highlight a dysfunctional BME that may impact AML survival and proliferation. PMID:25860293

  17. In vivo cytogenetic activity of diphenylhydantoin in mice.

    PubMed

    McFee, A F; Tice, R R; Shelby, M D

    1992-01-01

    Diphenylhydantoin was tested in vivo in mice using a variety of cytogenetic endpoints to evaluate its genotoxicity. Injected doses of 125, 250 and 500 mg/kg failed to increase the number of chromosome aberrations in marrow cells at 17 h post-treatment, and 37.5, 75 and 150 mg/kg doses were likewise ineffective at 36 h. SCEs were significantly increased by doses of 125 mg/kg (but not 250 mg) after 23 h and modestly, in relation to dose, at 42 h. No increase in the number of micronuclei among marrow PCEs was seen following single i.v. injections ranging from 0.1 to 20 mg/kg. Three daily i.p. injections of doses up to 70 mg/kg also failed to increase the number of micronuclei in either marrow or peripheral blood PCEs. Some cytotoxic effect was evident following relatively high doses. PMID:1370120

  18. Cytogenetic characterization of Partamona cupira (Hymenoptera, Apidae) by fluorochromes

    PubMed Central

    2010-01-01

    Four colonies of the stingless bee Partamona cupira (Hymenoptera: Apidae) were cytogenetically analyzed using conventional staining and the fluorochromes CMA3 e DAPI. The females have 2n = 34 chromosomes (2K = 32 M¯+2 A¯). Some females, however, presented an additional large B acrocentric chromosome, to a total of 2n = 35. Chromosome B and the chromosomal pairs 2, 9 and 10 showed CMA 3+ bands, indicating an excess of CG base-pairs. A clear association was verified between the P. helleri B chromosome SCAR marker and the presence of a B chromosome in P. cupira. The data obtained suggests that B chromosomes in P. helleri and P. cupira share a common origin. PMID:21637478

  19. radir package: an R implementation for cytogenetic biodosimetry dose estimation.

    PubMed

    Moriña, David; Higueras, Manuel; Puig, Pedro; Ainsbury, Elizabeth A; Rothkamm, Kai

    2015-09-01

    The Bayesian framework has been shown to be very useful in cytogenetic dose estimation. This approach allows description of the probability of an event in terms of previous knowledge, e.g. its expectation and/or its uncertainty. A new R package entitled radir (radiation inverse regression) has been implemented with the aim of reproducing a recent Bayesian-type dose estimation methodology. radir adopts the method of dose estimation under the Poisson assumption of the responses (the chromosomal aberrations counts) for the required dose-response curve (typically linear or quadratic). The individual commands are described in detail and relevant examples of the use of the methods and the corresponding radir software tools are given. The suitability of this methodology is highlighted and its application encouraged by providing a user-friendly command-type software interface within the R statistical software (version 3.1.1 or higher), which includes a complete manual. PMID:26160852

  20. Utility of array comparative genomic hybridization in cytogenetic analysis.

    PubMed

    Singh, Rashmi R; Cheung, K-John J; Horsman, Douglas E

    2011-01-01

    Conventional comparative genomic hybridization (CGH), high-resolution oligonucleotide, and BAC array CGH have modernized the field of cytogenetics to enable access to unbalanced genomic aberrations such as whole or partial chromosomal gains and losses. The basic principle of array CGH involves hybridizing differentially labeled proband/test (e.g., tumor) and normal reference DNA on an array of oligonucleotide or BAC clones instead of normal metaphases as in conventional CGH. The sub-megabase resolution tiling BAC arrays are extremely useful for the analysis of acquired aberrations in cancer genomes. Array CGH can be extremely useful to identify the chromosomal makeup of marker and ring chromosomes, to define/delineate the precise location/bands involved in structural aberrations and the accurate localization of translocation breakpoints in both simple and complex karyotypes either alone or in combination with standard karyotype analysis. PMID:21431645

  1. Testing hygrometers used in cytogenetics laboratories for metaphase preparation.

    PubMed

    Hartley, Thomas; Dun, Karen

    2011-07-01

    This protocol describes procedures for checking small laboratory hygrometers for accuracy at three relative humidity (rh) levels. The work arose out of the need to provide laboratory assessors with documentary evidence that the hygrometer used to monitor humidity in the vicinity of the laboratory where medical cytogenetics testing slides are prepared and dried in the ambient environment is reproducible and sufficiently accurate. The procedure is based upon the physicochemical principle that when water or certain saturated salt solutions are placed into a sealed environment, the humidity will equilibrate to well defined levels. We choose to check our hygrometers at three points: 95%, 75%, and 33% rh, using distilled water, saturated sodium chloride solution, and saturated magnesium chloride solution, respectively. Our results have demonstrated that the procedure is convenient and of sufficient accuracy to be fit for this annual hygrometer validation purpose. The procedure takes 24 hr per relative humidity point checked. PMID:21735375

  2. Unique mosaicism of tetraploidy and trisomy 8: Clinical, cytogenetic, and molecular findings in a live-born infant

    SciTech Connect

    Roberts, H.E.; Saxe, D.F.; Muralidharan, K.

    1996-03-29

    We report on a live-born infant with mosaicism of tetraploidy and trisomy 8 who had craniofacial abnormalities, cardiac and genitourinary defects, agenesis of the corpus callosum, and anomalies of limbs. The infant died at age 14 weeks. Molecular studies were done on peripheral blood lymphocytes and cultured amniocytes to determine the origin of the cytogenetic abnormalities. On the basis of the results, we describe a possible mechanism to explain these abnormalities. To our knowledge, this infant represents the first reported case of mosaic trisomy 8 with a tetraploid cell line. 14 refs., 4 figs., 2 tabs.

  3. Cytogenetic description of the earthworm Drawida ghilarovi Gates, 1969 (Oligochaeta, Moniligastridae) from the southern Russian Far East.

    PubMed

    Anisimov, Alim P; Roslik, Galina V; Ganin, Gennady N

    2015-01-01

    Sixty-six specimens of the earthworm Drawida ghilarovi Gates, 1969 (Oligochaeta, Moniligastridae) from 15 localities of the southern Russian Far East were studied cytogenetically. We examined chromosome sets during mitosis and diakinesis as well as DNA content in the spermatogenous and somatic cell nuclei. The populations and morphs displayed no differences in karyotype and ploidy levels estimated in terms of both chromosome number and DNA mass index: n = 10, 2n = 20; c = 1.1 pg, 2c = 2.2 pg. We conclude that polyploidy as a species- or race-forming factor is not typical of these earthworms. PMID:26753075

  4. Hyperferritinemia at diagnosis predicts relapse and overall survival in younger AML patients with intermediate-risk cytogenetics.

    PubMed

    Lebon, Delphine; Vergez, François; Bertoli, Sarah; Harrivel, Véronique; De Botton, Stéphane; Micol, Jean-Baptiste; Marolleau, Jean-Pierre; Récher, Christian

    2015-08-01

    The prognostic value of ferritin level at diagnosis in AML patients is unknown. We studied 162 younger AML patients with intermediate-risk cytogenetics who received intensive chemotherapy. The median ferritin level at diagnosis was 633 μg/L and 128 (79%) patients had a ferritin level above the upper normal limit. Hyperferritinemia was significantly associated with a higher cumulative incidence of relapse as well as poorer disease-free and overall survival. In multivariate analysis, hyperferritinemia remained an independent poor prognosis factor. The level of ferritin at diagnosis has a major impact on relapse suggesting a link between inflammation, oxidative stress and chemoresistance in AML. PMID:26002512

  5. [Cytogenetic peculiarities of cell genesis in apical meristems under gametophytic apomixis (using autonomous apomicts of the Asteraceae as an example)].

    PubMed

    Kashin, A S; Tsvetova, M I; Demochko, Iu A

    2011-01-01

    Cytogenetic peculiarities of cell genesis in apical meristems of apomicts has been analyzed using a series of the Asteraceae species as an example. The extent to which aneu- and mixoploids are spread among plants in the investigated populations of the Asteraceae species is so high (up to 30-60% of the studied plants and their offspring), that it seems reasonable to suppose that their rise is a natural phenomenon. It has been shown that in the aposporous facultative apomict Pilosella officinarum microgametophyte is a relatively stable element of the seed reproduction system from the point of view of caryotypical variation. PMID:21574427

  6. Cytogenetic description of the earthworm Drawida ghilarovi Gates, 1969 (Oligochaeta, Moniligastridae) from the southern Russian Far East

    PubMed Central

    Anisimov, Alim P.; Roslik, Galina V.; Ganin, Gennady N.

    2015-01-01

    Abstract Sixty-six specimens of the earthworm Drawida ghilarovi Gates, 1969 (Oligochaeta, Moniligastridae) from 15 localities of the southern Russian Far East were studied cytogenetically. We examined chromosome sets during mitosis and diakinesis as well as DNA content in the spermatogenous and somatic cell nuclei. The populations and morphs displayed no differences in karyotype and ploidy levels estimated in terms of both chromosome number and DNA mass index: n = 10, 2n = 20; c = 1.1 pg, 2c = 2.2 pg. We conclude that polyploidy as a species- or race-forming factor is not typical of these earthworms. PMID:26753075

  7. Interphase cytogenetic and AgNOR analyses of hydatidiform moles.

    PubMed Central

    Watanabe, M; Ghazizadeh, M; Konishi, H; Araki, T

    1998-01-01

    AIM: To determine the potential value of interphase cytogenetic and argyrophilic nucleolar organiser region (AgNOR) analyses in the diagnosis and classification of hydatidiform moles. METHODS: Serial tissue sections from 37 hydatidiform moles, histologically classified as 11 complete and 15 partial, and from 11 hydropic abortuses were examined by in situ hybridisation using digoxigenin labelled probes specific for chromosomes 1, X, and Y, and a one step silver staining method. The percentages of diploid and triploid nuclei, and the mean number of AgNORs for each tissue were determined. RESULTS: Interphase cytogenetics showed that eight of the 11 cases (73%) each of complete mole and hydropic abortus had diploid pattern and the three remaining cases (27%) of each group were triploid. Two of the triploid complete moles and one of the triploid hydropic abortuses were revised to partial moles and one remaining triploid complete mole was revised to hydropic abortus. Of the 15 partial moles, nine (60%) were triploid, and six (40%) were diploid. These diploid cases were revised to three complete moles and three hydropic abortuses. There was a significant difference (p < 0.0001) between the mean (SD) AgNOR count in partial mole (5.11 (0.91)) versus hydropic abortus (3.79 (0.90)) and complete mole (3.39 (0.97)). The total of 15 triploid cases showed a high mean AgNOR count of 5.24 (0.73). Also, after reclassification, eight of the nine partial moles (89%) had a mean AgNOR count of > or = 5. The results of analyses by the two methods were closely correlated. CONCLUSIONS: Interphasecytogeneticanalysis using chromosome specific probes and AgNOR count provides a valuable approach for ploidy analysis in histological sections of hydatidiform moles and helps to resolve difficult cases. Images PMID:9771442

  8. ABCG2, Cytogenetics, and Age Predict Relapse after Allogeneic Stem Cell Transplantation for Acute Myeloid Leukemia in Complete Remission.

    PubMed

    Damiani, Daniela; Tiribelli, Mario; Geromin, Antonella; Cerno, Michela; Zanini, Francesca; Michelutti, Angela; Fanin, Renato

    2016-09-01

    Recent studies have shown that ABGG2 protein overexpression in acute myeloid leukemia (AML) may be associated with poor response to therapy and increased relapse risk. Few data are available in patients with AML undergoing allogeneic stem cell transplantation (SCT), particularly when in complete remission (CR). We analyzed 105 patients with AML who underwent allogeneic SCT in CR evaluating the role of ABCG2 and other pretransplantation features on subsequent transplantation outcomes. Factors negatively associated with leukemia-free survival (LFS) were unfavorable cytogenetics (3-year LFS 48% versus 80%, P = .0035) and ABCG2 positivity (65% versus 80%, P = .045). Three-year cumulative incidence of relapse (CIR) in the whole population was 20%; a higher incidence of relapse was associated with adverse cytogenetics (41% versus 16%, P = .018), ABCG2 overexpression (29% versus 15%, P = .04), and, marginally, age > 50 years (30% versus 14%, P = .06). We grouped patients according to the combination of these 3 risk factors: no patient relapsed within 3 years from SCT in the group without risk factors, whereas the 3-year CIR was 12% (95% confidence interval [CI], 2% to 25%) in the group with 1 risk factor and 47% (95% CI, 31% to 70%) in patients with 2 or 3 risk factors (P = .00005). In conclusion, allogeneic SCT does not seem to abrogate the negative prognosis associated with ABCG2 overexpression at diagnosis, specifically in terms of a higher relapse risk. ABCG2, age, and cytogenetics can predict AML relapse after SCT in patients who undergo transplantation while in CR. PMID:27178373

  9. Toward a Molecular Cytogenetic Map for Cultivated Sunflower (Helianthus annuus L.) by Landed BAC/BIBAC Clones

    PubMed Central

    Feng, Jiuhuan; Liu, Zhao; Cai, Xiwen; Jan, Chao-Chien

    2013-01-01

    Conventional karyotypes and various genetic linkage maps have been established in sunflower (Helianthus annuus L., 2n = 34). However, the relationship between linkage groups and individual chromosomes of sunflower remains unknown and has considerable relevance for the sunflower research community. Recently, a set of linkage group-specific bacterial /binary bacterial artificial chromosome (BAC/BIBAC) clones was identified from two complementary BAC and BIBAC libraries constructed for cultivated sunflower cv. HA89. In the present study, we used these linkage group-specific clones (∼100 kb in size) as probes to in situ hybridize to HA89 mitotic chromosomes at metaphase using the BAC- fluorescence in situ hybridization (FISH) technique. Because a characteristic of the sunflower genome is the abundance of repetitive DNA sequences, a high ratio of blocking DNA to probe DNA was applied to hybridization reactions to minimize the background noise. As a result, all sunflower chromosomes were anchored by one or two BAC/BIBAC clones with specific FISH signals. FISH analysis based on tandem repetitive sequences, such as rRNA genes, has been previously reported; however, the BAC-FISH technique developed here using restriction fragment length polymorphism (RFLP)−derived BAC/BIBAC clones as probes to apply genome-wide analysis is new for sunflower. As chromosome-specific cytogenetic markers, the selected BAC/BIBAC clones that encompass the 17 linkage groups provide a valuable tool for identifying sunflower cytogenetic stocks (such as trisomics) and tracking alien chromosomes in interspecific crosses. This work also demonstrates the potential of using a large-insert DNA library for the development of molecular cytogenetic resources. PMID:23316437

  10. Low-grade central osteosarcoma of the metatarsal bone: a clinicopathological, immunohistochemical, cytogenetic and molecular cytogenetic analysis.

    PubMed

    Nishio, Jun; Iwasaki, Hiroshi; Takagi, Satoshi; Seo, Hajime; Aoki, Mikiko; Nabeshima, Kazuki; Naito, Masatoshi

    2012-12-01

    Low-grade central osteosarcoma (LGCOS) is a very rare low-grade malignant neoplasm that is often confused with a variety of benign fibro-osseous lesions. It rarely involves the small tubular bones of the feet. We present an unusual case of LGCOS arising in the third metatarsal bone of a 16-year-old boy. The radiographic appearance was suggestive of a benign lesion. An open biopsy was performed and the initial diagnosis was fibrous dysplasia. The patient underwent curettage of the lesion and packing of the bony defect with a synthetic bone substitute. Histologically, the curetted specimens consisted of spindle cells admixed with irregular bony trabeculae and osteoid. The spindle cells were fairly uniform with mild atypia, and cellularity varied from low to high. Immunohistochemistry showed that the tumor cells were focally-positive for cyclin-dependent kinase 4 and p53, but negative for murine double minute-2. The MIB-1 labeling index was 36.7% in the highest focus. Cytogenetic analysis exhibited the following clonal karyotypic abnormalities: 48,XY,del(6)(p11),add(8)(q24),add(12)(p11.2),+mar1,+mar-2. Spectral karyotyping demonstrated that marker chromosomes were composed mainly of chromosome 6. Metaphase-based comparative genomic hybridization analysis showed a high-level amplification of 6p12-p21 and gains of 8q21-q24, 10p15, 12q13-q15, and 16q23-q24. Based on these findings, the final diagnosis was revised to LGCOS and the patient was treated with an additional wide excision, followed by reconstruction with a free-vascularized osteocutaneous scapular flap. At 18 months of follow-up, the patient is well with no evidence of local recurrence or distant metastasis. Our case highlights the diagnostic difficulty of this tumor with limited tissue samples and the importance of immunohistochemical and molecular cytogenetic analyses in ambiguous cases. PMID:23225447

  11. Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review

    PubMed Central

    Dutta, Usha R.

    2014-01-01

    Chromosomal aberrations are a major cause of human genetic diseases. Conventional cytogenetic banding techniques are the method of identification for both numerical and structural chromosomal abnormalities but with limited resolution. However, precise identification and characterization of the chromosomal abnormalities can only be achieved by advanced molecular cytogenetic techniques. These techniques are based mainly on fluorescence in situ hybridization, which have become an invaluable tool in the field of diagnostics. The advent of these molecular cytogenetic techniques has helped in the identification of chromosomal abnormalities to its minutest level. Apparently, the leads in molecular cytogenetic techniques have paved way for advanced molecular diagnosis, which now plays a significant role in both diagnostics and clinical research. These advances have led to the increased knowledge of the possible molecular mechanism involved in the chromosomal rearrangements and the genotype-phenotype correlation thus helping the patients towards better diagnosis and genetic counseling. This article highlights the advances in molecular cytogenetic techniques emphasizing the precision in identification of chromosomal rearrangements, and also illustrates few chromosomal abnormalities pediatric cases identified using these molecular cytogenetic techniques.

  12. Impaired Cytogenetic Damage Repair and Cell Cycle Regulation in Response to Ionizing Radiation in Human Fibroblast Cells with Individual Knock-down of 25 Genes

    NASA Technical Reports Server (NTRS)

    Zhang, Ye; Rohde, Larry; Emami, Kamal; Hammond, Dianne; Casey, Rachael; Mehta, Satish; Jeevarajan, Antony; Pierson, Duane; Wu, Honglu

    2008-01-01

    Changes of gene expression profile are one of the most important biological responses in living cells after ionizing radiation (IR) exposure. Although some studies have demonstrated that genes with upregulated expression induced by IR may play important roles in DNA damage sensing, cell cycle checkpoint and chromosomal repair, the relationship between the regulation of gene expression by IR and its impact on cytogenetic responses to ionizing radiation has not been systematically studied. In our present study, the expression of 25 genes selected based on their transcriptional changes in response to IR or from their known DNA repair roles were individually knocked down by siRNA transfection in human fibroblast cells. Chromosome aberrations (CA) and micronuclei (MN) formation were measured as the cytogenetic endpoints. Our results showed that the yield of MN and/or CA formation were significantly increased by suppressed expression of 5 genes that included Ku70 in the DSB repair pathway; XPA in the NER pathway; RPA1 in the MMR pathway; RAD17 and RBBP8 in cell cycle control. Knocked-down expression of 4 genes including MRE11A, RAD51 in the DSB pathway, and SESN1 and SUMO1 showed significant inhibition of cell cycle progression, possibly because of severe impairment of DNA damage repair. Furthermore, loss of XPA, p21 and MLH1 expression resulted in both enhanced cell cycle progression and significantly higher yield of cytogenetic damage, indicating the involvement of these gene products in both cell cycle control and DNA damage repair. Of these 11 genes that affected the cytogenetic response, 9 were up-regulated in the cells exposed to gamma radiation, suggesting that genes transcriptionally modulated by IR were critical to regulating the biological consequences after IR. Failure to express these IR-responsive genes, such as by gene mutation, could seriously change the outcome of the post IR scenario and lead to carcinogenesis.

  13. Single nucleotide polymorphism array karyotyping: a diagnostic and prognostic tool in myelodysplastic syndromes with unsuccessful conventional cytogenetic testing.

    PubMed

    Arenillas, Leonor; Mallo, Mar; Ramos, Fernando; Guinta, Kathryn; Barragán, Eva; Lumbreras, Eva; Larráyoz, María-José; De Paz, Raquel; Tormo, Mar; Abáigar, María; Pedro, Carme; Cervera, José; Such, Esperanza; José Calasanz, María; Díez-Campelo, María; Sanz, Guillermo F; Hernández, Jesús María; Luño, Elisa; Saumell, Sílvia; Maciejewski, Jaroslaw; Florensa, Lourdes; Solé, Francesc

    2013-12-01

    Cytogenetic aberrations identified by metaphase cytogenetics (MC) have diagnostic, prognostic, and therapeutic implications in myelodysplastic syndromes (MDS). However, in some MDS patients MC study is unsuccesful. Single nucleotide polymorphism array (SNP-A) based karyotyping could be helpful in these cases. We performed SNP-A in 62 samples from bone marrow or peripheral blood of primary MDS with an unsuccessful MC study. SNP-A analysis enabled the detection of aberrations in 31 (50%) patients. We used the copy number alteration information to apply the International Prognostic Scoring System (IPSS) and we observed differences in survival between the low/intermediate-1 and intermediate-2/high risk patients. We also saw differences in survival between very low/low/intermediate and the high/very high patients when we applied the revised IPSS (IPSS-R). In conclusion, SNP-A can be used successfully in PB samples and the identification of CNA by SNP-A improve the diagnostic and prognostic evaluation of this group of MDS patients. PMID:24123380

  14. New record and cytogenetic analysis of Psammolestes tertius Lent & Jurberg, 1965 (Hemiptera, Reduviidae, Triatominae) from Bahia State, Brazil.

    PubMed

    Oliveira, J; Alevi, K C C; Fonseca, E O L; Souza, O M F; Santos, C G S; Azeredo-Oliveira, M T V; da Rosa, J A

    2016-01-01

    This paper reports on the first occurrence of Psammolestes tertius in the Chapada Diamantina region, located in the city of Seabra, Bahia State, in northeastern Brazil. Following an active search, 24 P. tertius specimens were collected from Phacellodomus rufifrons (rufous-fronted thornbird) nests. The insects did not present any symptoms of infection by Trypanosoma cruzi. P. tertius males were cytogenetically analyzed, and the results were compared with those of other specimens from the Brazilian State of Ceará. Triatomines from both locations presented the same cytogenetic characteristics: 22 chromosomes, little variation in the size of the autosomes, Y chromosomes that were larger than the X chromosomes, a chromocenter formed only by the sex chromosomes during prophase, and autosomes lacking constitutive heterochromatin. However, it is important to note that this species shows intraspecific chromosomal variation. In light of the results obtained, it is recommended that more studies be performed to characterize P. tertius. These studies will be particularly helpful in understanding this species in ecological, biological, biogeographical, and phylogenetic terms. PMID:27420943

  15. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

    SciTech Connect

    Flejter, W.L.; Bennett-Baker, P.E.; Gorski, J.L.

    1996-01-11

    A variety of distinct phenotypes has been associated with supernumerary inv dup(15) chromosomes. Although different cytogenetic rearrangements have been associated with distinguishable clinical syndromes, precise genotype-phenotype correlations have not been determined. However, the availability of chromosome 15 DNA markers provides a means to characterize inv dup(15) chromosomes in detail to facilitate the determination of specific genotype-phenotype associations. We describe 2 patients with an autistic disorder, mental retardation, developmental delay, seizures, and supernumerary inv dup(15) chromosomes. Conventional and molecular cytogenetic studies confirmed the chromosomal origin of the supernumerary chromosomes and showed that the duplicated region extended to at least band 15q13. An analysis of chromosome 15 microsatellite CA polymorphisms suggested a maternal origin of the inv dup(15) chromosomes and biparental inheritance of the two intact chromosome 15 homologs. The results of this study add to the existing literature which suggests that the clinical phenotype of patients with a supernumerary inv dup(15) chromosome is determined not only by the extent of the duplicated region, but by the dosage of genes located within band 15q13 and the origin of the normal chromosomes 15. 21 refs., 2 figs., 1 tab.

  16. Relevance of Stereotyped B-Cell Receptors in the Context of the Molecular, Cytogenetic and Clinical Features of Chronic Lymphocytic Leukemia

    PubMed Central

    Fabris, Sonia; Colombo, Monica; Tuana, Giacomo; Agnelli, Luca; Matis, Serena; Lionetti, Marta; Gentile, Massimo; Recchia, Anna Grazia; Di Raimondo, Francesco; Musolino, Caterina; Ilariucci, Fiorella; Di Renzo, Nicola; Pesce, Emanuela; Molica, Stefano; Federico, Massimo; Cortelezzi, Agostino; Morabito, Fortunato; Ferrarini, Manlio; Neri, Antonino

    2011-01-01

    Highly homologous B-cell receptors, characterized by non-random combinations of immunoglobulin heavy-chain variable (IGHV) genes and heavy-chain complementarity determining region-3 (HCDR3), are expressed in a recurrent fraction of patients affected by chronic lymphocytic leukemia (CLL). We investigated the IGHV status of 1131 productive IG rearrangements from a panel of 1126 CLL patients from a multicenter Italian study group, and correlated the presence and class of HCDR3 stereotyped subsets with the major cytogenetic alterations evaluated by FISH, molecular prognostic factors, and the time to first treatment (TTFT) of patients with early stage disease (Binet A). Stereotyped HCDR3 sequences were found in 357 cases (31.7%), 231 of which (64.7%) were unmutated. In addition to the previously described subsets, 31 new putative stereotypes subsets were identified. Significant associations between different stereotyped HCDR3 sequences and molecular prognostic factors, such as CD38 and ZAP-70 expression, IGHV mutational status and genomic abnormalities were found. In particular, deletion of 17p13 was significantly represented in stereotype subset #1. Notably, subset #1 was significantly correlated with a substantially reduced TTFT compared to other CLL groups showing unmutated IGHV, ZAP-70 or CD38 positivity and unfavorable cytogenetic lesions including del(17)(p13). Moreover, subset #2 was strongly associated with deletion of 13q14, subsets #8 and #10 with trisomy 12, whereas subset #4 was characterized by the prevalent absence of the common cytogenetic abnormalities. Our data from a large and representative panel of CLL patients indicate that particular stereotyped HCDR3 sequences are associated with specific cytogenetic lesions and a distinct clinical outcome. PMID:21897877

  17. Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

    PubMed Central

    Venegas-Vega, Carlos A.; Zepeda, Luis M.; Garduño-Zarazúa, Luz M.; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling. PMID:23484094

  18. [Long-term follow-up cytogenetic survey and biological dosimetry in persons evacuated from 30-km Chernobyl NPP zone].

    PubMed

    Maznik, N A

    2004-01-01

    The paper presents the results of the follow-up cytogenetic survey and biological dosimetry carried out in inhabitants of Pripiat' town and nearby villages, who were departured from the Chernobyl NPP 30-km exclusive zone during first days after the Chernobyl catastrophe. The unstable chromosome aberration level in inhabitants were significantly increased above control in terms up to 1 year after evacuation and declined gardually during next 14 years. In early period the cytogenetic damage frequency in evacuees showed no dependence on gender. The chromosome type aberration level appeared to be lower in young persons comparing with adults. The dicentrics plus centric rings yield had a positive correlation with duration of staying at Chernobyl zone. The average doses of protracted exposure were calculated from the dicentrics and centric rings yields; the dose estimations appeared to be 1.4 times higher in persons evacuated 3-11 days after the accident than that of in persons with shorter departure time. Uing the Bayesian analysis the probabilistic distribution of biological doses was constructed for the studied evacuees group. This distribution was characterized by a mean dose of 360 mGy, the modal doses of 200-450 mGy and 80% of probability density within the dose range 0-1000 mGy, that seems to be sufficient for considering the increased risk of late somatic radiation effects for this cohort. PMID:15571047

  19. Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation

    PubMed Central

    Bouhjar, Inesse Ben Abdallah; Gmidène, Abir; Soyah, Najla; Hanene, Hannachi; Mougou, Soumaya; Elghezal, Hatem; Saad, Ali

    2012-01-01

    In this study, we report two patients with the supernumerary marker chromosome (15)s. The first case is an 8.5-year-old girl with an inv dup (15) syndrome, mental retardation and dysmorphic features. The second case is a 13-year-old boy with a ring chromosome 15, who was referred to the Laboratory of Cytogenetic and Biology of Reproduction in Sousse, Tunisia for mental retardation, epilepsy, speech delay, hypotonia and other mild dysmorphic features. R banding showed the presence of a marker chromosome in both cases. Molecular cytogenetic investigation using fluorescence in situ hybridization method allowed us to characterize the markers including the Prader-Willi syndrome locus that contains the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene. Tetrasomy and trisomy for the 15q11-q13 chromosomal region were found in the first and the second patient, respectively. This observation reinforces the hypothesis that additional copies of proximal chromosome 15q11 segment may be causally related to mental retardation and dysmorphic features.

  20. Diagnosis of familial Wolf-Hirschhorn syndrome due to a paternal cryptic chromosomal rearrangement by conventional and molecular cytogenetic techniques.

    PubMed

    Venegas-Vega, Carlos A; Fernández-Ramírez, Fernando; Zepeda, Luis M; Nieto-Martínez, Karem; Gómez-Laguna, Laura; Garduño-Zarazúa, Luz M; Berumen, Jaime; Kofman, Susana; Cervantes, Alicia

    2013-01-01

    The use of conventional cytogenetic techniques in combination with fluorescent in situ hybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosomal syndromes. We report two siblings, a boy of 9 years and 9 months of age and his 7-years- and 5-month-old sister, with the classic Wolf-Hirschhorn syndrome (WHS) phenotype. Using high-resolution GTG- and NOR-banding karyotypes, as well as FISH analysis, we characterized a pure 4p deletion in both sibs and a balanced rearrangement in their father, consisting in an insertion of 4p material within a nucleolar organizing region of chromosome 15. Copy number variant (CNV) analysis using SNP arrays showed that both siblings have a similar size of 4p deletion (~6.5 Mb). Our results strongly support the need for conventional cytogenetic and FISH analysis, as well as high-density microarray mapping for the optimal characterization of the genetic imbalance in patients with WHS; parents must always be studied for recognizing cryptic balanced chromosomal rearrangements for an adequate genetic counseling. PMID:23484094

  1. Comparative genomic hybridization in childhood acute lymphoblastic leukemia: correlation with interphase cytogenetics and loss of heterozygosity analysis.

    PubMed

    Scholz, I; Popp, S; Granzow, M; Schoell, B; Holtgreve-Grez, H; Takeuchi, S; Schrappe, M; Harbott, J; Teigler-Schlegel, A; Zimmermann, M; Fischer, C; Koeffler, H P; Bartram, C R; Jauch, A

    2001-01-15

    We used comparative genomic hybridization (CGH) to study DNA copy number changes in 71 children with acute lymphoblastic leukemia (ALL) including 50 B-lineage and 21 T-ALLs. Forty-two patients (59%) showed genomic imbalances whereby gains were more frequently observed than losses (127 vs. 29). Gains most commonly affected the entire chromosomes 21 and 10 (19.7% each), 6, 14, 18, X (15.5% each), 17 (14.1%) and 4 (11.3%). Highly hyperdiploid karyotypes (chromosome number >50) occurred more frequently in B-lineage than in T-lineage ALL (24% vs. 4.8%). In both cell lineages deletions were mainly detected on 9p (14.1%) and 12p (8.4%), and on 6q in T-lineage ALL (4.2%). These findings were compared with loss of heterozygosity (LOH) of 6q, 9p, 11q, and 12p previously performed in 56 of the 71 patients. Among 54 sites of LOH, CGH revealed losses of the respective chromosome arms in 17 LOH-positive regions (31.5%). G-banding analysis and interphase cytogenetics with subregional probes for 14 loci confirmed the presence of genomic imbalances as detected by CGH. We, therefore, conclude that, in the absence of cytogenetic data, CGH represents a suitable method for identifying hyperdiploid karyotypes as well as prognostically relevant deletions in ALL patients. PMID:11172898

  2. Chromosome Painting in Three Species of Buteoninae: A Cytogenetic Signature Reinforces the Monophyly of South American Species

    PubMed Central

    de Oliveira, Edivaldo Herculano C.; Tagliarini, Marcella Mergulhão; dos Santos, Michelly S.; O'Brien, Patricia C. M.; Ferguson-Smith, Malcolm A.

    2013-01-01

    Buteoninae (Falconiformes, Accipitridae) consist of the widely distributed genus Buteo, and several closely related species in a group called “sub-buteonine hawks”, such as Buteogallus, Parabuteo, Asturina, Leucopternis and Busarellus, with unsolved phylogenetic relationships. Diploid number ranges between 2n = 66 and 2n = 68. Only one species, L. albicollis had its karyotype analyzed by molecular cytogenetics. The aim of this study was to present chromosomal analysis of three species of Buteoninae: Rupornis magnirostris, Asturina nitida and Buteogallus meridionallis using fluorescence in situ hybridization (FISH) experiments with telomeric and rDNA probes, as well as whole chromosome probes derived from Gallus gallus and Leucopternis albicollis. The three species analyzed herein showed similar karyotypes, with 2n = 68. Telomeric probes showed some interstitial telomeric sequences, which could be resulted by fusion processes occurred in the chromosomal evolution of the group, including the one found in the tassociation GGA1p/GGA6. In fact, this association was observed in all the three species analyzed in this paper, and also in L. albicollis, suggesting that it represents a cytogenetic signature which reinforces the monophyly of Neotropical buteoninae species. PMID:23922908

  3. A Cytogenetic Analysis of Chromosomal Region 31 of Drosophila Melanogaster

    PubMed Central

    Clegg, N. J.; Whitehead, I. P.; Brock, J. K.; Sinclair, D. A.; Mottus, R.; Stromotich, G.; Harrington, M. J.; Grigliatti, T. A.

    1993-01-01

    Cytogenetic region 31 of the second chromosome of Drosophila melanogaster was screened for recessive lethal mutations. One hundred and thirty nine new recessive lethal alleles were isolated that fail to complement Df(2L)J2 (31A-32A). These new alleles, combined with preexisting mutations in the region, define 52 complementation groups, 35 of which have not previously been described. Among the new mutations were alleles of the cdc2 and mfs(2)31 genes. Six new deficiencies were also isolated and characterized identifying 16 deficiency subintervals within region 31. The new deficiencies were used to further localize three loci believed to encode non-histone chromosomal proteins. Suvar(2)1/Su(var)214, a dominant suppressor of position-effect variegation (PEV), maps to 31A-B, while the recessive suppressors of PEV mfs(2)31 and wdl were localized to regions 31E and 31F-32A, respectively. In addition, the cytological position of several mutations that interact with heterochromatin were more precisely defined. PMID:8514131

  4. Extensive cytogenetic heterogeneity in a benign retroperitoneal schwannoma.

    PubMed

    Gorunova, L; Dawiskiba, S; Andrén-Sandberg, A; Höglund, M; Johansson, B

    2001-06-01

    A benign retroperitoneal schwannoma from a patient without prior exposure to radiotherapy or chemotherapy was analyzed by chromosome banding after short-term culture. An extensive intratumor heterogeneity in the form of 29 karyotypically related as well as unrelated clones was found. The aberrant clones were diploid or near-diploid and displayed both numerical and structural changes. All chromosomes, except 11, 16, and 20, were affected. Numerical changes included trisomies X, 7, 9, 17, and 18, and monosomies 13 and 18. No clonal loss of chromosome 22, the most characteristic abnormality in schwannomas of other locations, was, however, detected. The structural aberrations resulted in a total of 58 chromosomal breakpoints, with chromosomes 18, 1, and 15 participating in rearrangements most frequently, followed by chromosomes 14, 2, and 22. A striking finding was the clonal involvement of 18p11 in eight rearrangements affecting different chromosomes, suggesting alteration of telomeric function. The molecular mechanisms underlying the observed massive polyclonality in the schwannoma, particularly the presence of cytogenetically unrelated clones, are unknown and probably heterogeneous. PMID:11425455

  5. [Cytogenetic analysis of lymphoid blood cells in bovine leucosis].

    PubMed

    Staník, J; Izariková

    1979-11-01

    For the cytogenetic analysis lymphocytes of the peripheral blood were used that had been obtained from cows suffering from leucosis. The blood was taken from a diseased cow, from its 15 months old daughter suffering from leucosis, and from the healthy bull-father (NAT-47). The diagnosis of leucosis was determined by means of hematological examination. In the cow 139 metaphase plates were evaluated, in the daughter 118, and in the bull 132. On the one hand, normoploidy was determined and on the other hand, chromosome aberrations. In the cow 31.0 p. c. of chromosome aberrations were found, in the daughter 32.3 p. c., and in the bull 37.2 p. c. Breaks in X chromosomes were found in the cow (6.7 p. c.) and in the daughter (1.7 p. c.). Longitudinal diversion of arms in the centromere in X chromosomes in the vertical axis into two separate arms was found in the cow amounting to 6.5 p. c., in the daughter to 5.9 p. c., and in the bull to only 0.8 p. c. PMID:117595

  6. Molecular cytogenetic analysis of breast cancer cell lines

    PubMed Central

    Davidson, J M; Gorringe, K L; Chin, S-F; Orsetti, B; Besret, C; Courtay-Cahen, C; Roberts, I; Theillet, C; Caldas, C; Edwards, P A W

    2000-01-01

    The extensive chromosome rearrangements of breast carcinomas must contribute to tumour development, but have been largely intractable to classical cytogenetic banding. We report here the analysis by 24-colour karyotyping and comparative genomic hybridization (CGH) of 19 breast carcinoma cell lines and one normal breast epithelial cell line, which provide model examples of karyotype patterns and translocations present in breast carcinomas. The CGH was compared with CGH of 106 primary breast cancers. The lines varied from perfectly diploid to highly aneuploid. Translocations were very varied and over 98% were unbalanced. The most frequent in the carcinomas were 8;11 in five lines; and 8;17, 1;4 and 1;10 in four lines. The most frequently involved chromosome was 8. Several lines showed complex multiply-translocated chromosomes. The very aneuploid karyotypes appeared to fall into two groups that evolved by different routes: one that steadily lost chromosomes and at one point doubled their entire karyotype; and another that steadily gained chromosomes, together with abnormalities. All karyotypes fell within the range seen in fresh material and CGH confirmed that the lines were broadly representative of fresh tumours. The karyotypes provide a resource for the cataloguing and analysis of translocations in these tumours, accessible at http://www.path.cam.ac.uk/~pawefish. © 2000 Cancer Research Campaign PMID:11044355

  7. Cytogenetic toxicity and no-effect limit dose of pesticides.

    PubMed

    Kumar, D; Khan, P K; Sinha, S P

    1995-04-01

    The no-effect limit dose (NELD) of three commonly used pesticides with respect to their cytogenetic toxicity was determined in a number of test systems using a sufficient number of lower doses to characterize the dose-effect relationship. For lindane, malathion and metacid, this dose was 3.2, 7.0 and 3.0 mg/litre, respectively, for mitosis inhibition and 9.0, 55 and 60 mg/litre, respectively, for chromosome clastogeny in onion root-tip cells. For chromosome clastogeny in mice bone marrow cells, the NELDs of the three pesticides were 1.6, 1.5 and 2.0 mg/kg body weight/day, respectively. These values for dominant lethals and X-chromosome-linked recessive lethals in Drosophila were 20 and 5 micrograms lindane/litre, 2 and 3.5 micrograms malathion/litre and 4 and 5.5 micrograms metacid/litre, respectively. Thus, the NELDs are not only pesticide specific but also organism specific, tissue specific and even damage specific. Furthermore, the NELD values determined are so small that the real human exposure to pesticides cannot be reduced below these levels without compromising the effectiveness of pesticides in use. PMID:7537710

  8. Hyperspectral backscatter imaging: a label-free approach to cytogenetics.

    PubMed

    Rebner, Karsten; Ostertag, Edwin; Kessler, Rudolf W

    2016-08-01

    Current techniques for chromosome analysis need to be improved for rapid, economical identification of complex chromosomal defects by sensitive and selective visualisation. In this paper, we present a straightforward method for characterising unstained human metaphase chromosomes. Backscatter imaging in a dark-field setup combined with visible and short near-infrared spectroscopy is used to monitor morphological differences in the distribution of the chromosomal fine structure in human metaphase chromosomes. The reasons for the scattering centres in the fine structure are explained. Changes in the scattering centres during preparation of the metaphases are discussed. FDTD simulations are presented to substantiate the experimental findings. We show that local scattering features consisting of underlying spectral modulations of higher frequencies associated with a high variety of densely packed chromatin can be represented by their scatter profiles even on a sub-microscopic level. The result is independent of the chromosome preparation and structure size. This analytical method constitutes a rapid, cost-effective and label-free cytogenetic technique which can be used in a standard light microscope. Graphical abstract Hyperspectral backscatter imaging for label-free characterization. PMID:27277813

  9. Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

    PubMed Central

    Reddy, Kavita S

    2005-01-01

    Background Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5–10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been identified. We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory. Methods Data was analyzed from 433 patients with autistic traits tested using chromosome analysis and/or fluorescence in situ hybridization (FISH) and/or molecular testing for fragile X syndrome by Southern and PCR methods. Results The median age was 4 years. Sex ratio was 4.5 males to 1 female [354:79]. A chromosome (cs) abnormality was found in 14/421 [3.33 %] cases. The aberrations were: 4/14 [28%] supernumerary markers; 4/14 [28%] deletions; 1/14 [7%] duplication; 3/14 [21%] inversions; 2/14 [14%] translocations. FISH was performed on 23 cases for reasons other than to characterize a previously identified cytogenetic abnormality. All 23 cases were negative. Fragile-X testing by Southern blots and PCR analysis found 7/316 [2.2 %] with an abnormal result. The mutations detected were: a full mutation (fM) and abnormal methylation in 3 [43 %], mosaic mutations with partial methylation of variable clinical significance in 3 [43%] and a permutation carrier [14%]. The frequency of chromosome and fragile-X abnormalities appears to be within the range in reported surveys (cs 4.8-1.7%, FRAX 2–4%). Limitations of our retrospective study include paucity of behavioral diagnostic information, and a specific clinical criterion for testing. Conclusions Twenty-eight percent of chromosome abnormalities detected in our study were subtle; therefore a high resolution cytogenetic study with a scrutiny of 15q11.2q13, 2q37 and Xp23.3 region should be standard

  10. Cytogenetic analyses of five amazon lizard species of the subfamilies Teiinae and Tupinambinae and review of karyotyped diversity the family Teiidae

    PubMed Central

    Carvalho, Natália Dayane Moura; Arias, Federico José; da Silva, Francijara Araújo; Schneider, Carlos Henrique; Gross, Maria Claudia

    2015-01-01

    Abstract Lizards of the family Teiidae (infraorder Scincomorpha) were formerly known as Macroteiidae. There are 13 species of such lizards in the Amazon, in the genera Ameiva (Meyer, 1795), Cnemidophorus (Wagler, 1830), Crocodilurus (Spix, 1825), Dracaena (Daudin, 1801), Kentropyx (Spix, 1825) and Tupinambis (Daudin, 1802). Cytogenetic studies of this group are restricted to karyotype macrostructure. Here we give a compilation of cytogenetic data of the family Teiidae, including classic and molecular cytogenetic analysis of Ameiva ameiva (Linnaeus, 1758), Cnemidophorus sp.1, Kentropyx calcarata (Spix, 1825), Kentropyx pelviceps (Cope, 1868) and Tupinambis teguixin (Linnaeus, 1758) collected in the state of Amazonas, Brazil. Ameiva ameiva, Kentropyx calcarata and Kentropyx pelviceps have 2n=50 chromosomes classified by a gradual series of acrocentric chromosomes. Cnemidophorus sp.1 has 2n=48 chromosomes with 2 biarmed chromosomes, 24 uniarmed chromosomes and 22 microchromosomes. Tupinambis teguixin has 2n=36 chromosomes, including 12 macrochromosomes and 24 microchromosomes. Constitutive heterochromatin was distributed in the centromeric and terminal regions in most chromosomes. The nucleolus organizer region was simple, varying in its position among the species, as evidenced both by AgNO3 impregnation and by hybridization with 18S rDNA probes. The data reveal a karyotype variation with respect to the diploid number, fundamental number and karyotype formula, which reinforces the importance of increasing chromosomal analyses in the Teiidae. PMID:26753079

  11. Cytogenetic characterization of three Balistoidea fish species from the Atlantic with inferences on chromosomal evolution in the families Monacanthidae and Balistidae

    PubMed Central

    de Lima, Lorena Corina Bezerra; Martinez, Pablo Ariel; Molina, Wagner Franco

    2011-01-01

    Abstract The Tetraodontiformes are the most derived group of teleostean fish. Among other apomorphies, they are characterized by a high degree of fusions or significant bone loss in the head and body. In the early phylogenetic proposals presented for this order, the families Balistidae and Monacanthidae have been unanimously considered to be closely related. Although they have moderate species diversity, they are scarcely known in cytogenetic aspect and chromosomal pattern comparisons between these groups have yet to be established. The species Cantherhines macrocerus (Hollard,1853), Cantherhines pullus (Ranzani, 1842) (Monacanthidae) and Melichthys niger (Bloch, 1786) (Balistidae) were cytogenetically analyzed using conventional (Ag-impregnation, C-banding, CMA3- and DAPI-fluorescence) and molecular (FISH with an 18S rDNA probe) cytogenetic protocols. The karyotypes of all three species were very similar possessing diploid chromosome numbers 2n = 40 and composed exclusively of acrocentric chromosomes. Single NOR-bearing pair as well as positive heterochromatic blocks at pericentromeric regions were identified in the karyotypes of the three species studied. NOR-bearing sites were positively labeled after Ag-impregnation, C-banding, CMA3-fluorescence and FISH with an 18S rDNA probe but were negative after DAPI-fluorescence. Such remarkable shared conspicuous chromosomal characters corroborate either close phylogenetic relationship of these families, previously established by morphological and molecular data, or rather conservative nature of karyotype differentiation processes. The later hypothesis, however, appears less probable due to centric or in tandem fusions documented for another Balistoidea species. PMID:24260619

  12. Shared clonal cytogenetic abnormalities in aberrant mast cells and leukemic myeloid blasts detected by single nucleotide polymorphism microarray-based whole-genome scanning.

    PubMed

    Frederiksen, John K; Shao, Lina; Bixby, Dale L; Ross, Charles W

    2016-04-01

    Systemic mastocytosis (SM) is characterized by a clonal proliferation of aberrant mast cells within extracutaneous sites. In a subset of SM cases, a second associated hematologic non-mast cell disease (AHNMD) is also present, usually of myeloid origin. Polymerase chain reaction and targeted fluorescence in situ hybridization studies have provided evidence that, in at least some cases, the aberrant mast cells are related clonally to the neoplastic cells of the AHNMD. In this work, a single nucleotide polymorphism microarray (SNP-A) was used to characterize the cytogenetics of the aberrant mast cells from a patient with acute myeloid leukemia and concomitant mast cell leukemia associated with a KIT D816A mutation. The results demonstrate the presence of shared cytogenetic abnormalities between the mast cells and myeloid blasts, as well as additional abnormalities within mast cells (copy-neutral loss of heterozygosity) not detectable by routine karyotypic analysis. To our knowledge, this work represents the first application of SNP-A whole-genome scanning to the detection of shared cytogenetic abnormalities between the two components of a case of SM-AHNMD. The findings provide additional evidence of a frequent clonal link between aberrant mast cells and cells of myeloid AHNMDs, and also highlight the importance of direct sequencing for identifying uncommon activating KIT mutations. PMID:26865278

  13. Cytogenetics of Anodonta cygnea (Mollusca: Bivalvia) as possible indicator of environmental adversity

    NASA Astrophysics Data System (ADS)

    Carrilho, J.; Leitão, A.; Vicente, C.; Malheiro, I.

    2008-11-01

    Anodonta cygnea is a freshwater clam, belonging to the Unionidae family, which can be found in rivers and lagoons all over Europe and Northern America. As they appear as important case studies for ecological damage assessments, the various species of the Unionidae family have been submitted to a sort of recent studies on their chromosomal or cytogenetic status. In this study we confirmed the diploid chromosome number of 2 n = 38 for this species, and established for the first time the karyotype, which comprised six metacentric, 12 submetacentric and one subtelocentric chromosome pairs. We also found a high percentage of cells with an abnormal number of chromosomes. Considering that karyotype disturbances in Unionids have been previously related with exposure to chemicals, either natural or produced by human activity, we determined the aneuploidy index for our population. The aneuploidy index is an excellent marker for pollutant presence/effect. The animals acclimatized in tap water and in natural water from the lake where the individuals were collected showed different levels of aneuploidy. The higher values were found in tap water. Chromosome analysis techniques seem a suitable tool to study the impact of contaminants referred above, and making A. cygnea a suitable organism for assessment of an eugenic damage in aquatic systems. On the other hand, our results also point out to the importance of doing the acclimatizing process of the collected animals in their own natural water.

  14. Comparative cytogenetics of ten species of cichlid fishes (Teleostei, Cichlidae) from the Araguaia River system, Brazil, by conventional cytogenetic methods

    PubMed Central

    Valente, G. Targino; Vitorino, C. de Andrade; Cabral-de-Mello, D.C.; Oliveira, C.; Souza, I. Lima; Martins, C.; Venere, P.C.

    2012-01-01

    Abstract Cichlids represent one of the most species-rich families of fishes and have attracted the attention of evolutionary biologists due to the rapid radiation occurring in some groups and the importance of some species in the world aquaculture. Cytogenetic analysis was conducted in 10 cichlid species from the Araguaia River, Amazon Basin, Brazil. The chromosome number was 2n=48 for all analyzed species except for Laetacara araguaiae Ottoni et Costa, 2009 (2n=44). Chromosomal polymorphism was detected only in Geophagus proximus (Castelnau, 1855), which exhibits an extra large submetacentric and and a dot-like chromosomes. Moreover, the C-banding revealed a general pericentromeric heterochromatic pattern and some additional blocks for some species. The heterochromatic blocks corresponding to AgNOR bearing regions were observed in all species and also corresponded to CMA3 positive blocks, which were observed in terminal regions. Besides the general conserved chromosomal and heterochromatin patterns for South American cichlids, the presence of GC-rich heterochromatin was quite different in the species Biotodoma cupido (Heckel, 1840), Geophagus proximus, Retroculus lapidifer (Castelnau, 1855), Crenicichla strigata Günther, 1862 and Heros efasciatus Heckel, 1840. The results suggest that independent events of heterochromatin modification occurred during chromosome evolution in the group, regardless of the conservation of macro-chromosomal structure. PMID:24260660

  15. Standardization of DNA extraction from methanol acetic acid fixed cytogenetic cells of cattle and buffalo.

    PubMed

    Kotikalapudi, Rosaiah; Patel, Rajesh K; Katragadda, Sanghamitra

    2013-12-01

    The aim of the study is to standardize the simple method for extracting DNA from cells fixed in fixative (3:1 ratio of methanol and acetic acid glacial) mostly used for chromosomal studies in cattle and buffaloes. These fixed cells were stored for more than 6 months at refrigerated temperature. The fixed cells were washed 2-3 times by the ice cold 1x Phosphate Buffer Saline (PBS) with pH 7.4, so that effect of fixative may be eliminated. The genomic DNA was extracted by adding cell lysis and nucleus lysis buffers. The quality and quantity of DNA were estimated. The readings of nano drop and agarose gel electrophoresis indicate good quality DNA isolated with a rapid and simple protocol routinely using in our laboratory. The method enables us to study the DNA of a cattle and buffaloes after completing cytogenetic investigation or in cases where DNA samples are otherwise not available. This protocol may be useful for molecular analysis of DNA from fixed cells palettes. PMID:24506057

  16. DNA Methylation Profiles and Their Relationship with Cytogenetic Status in Adult Acute Myeloid Leukemia

    PubMed Central

    Alvarez, Sara; Suela, Javier; Valencia, Ana; Fernández, Agustín; Wunderlich, Mark; Agirre, Xabier; Prósper, Felipe; Martín-Subero, José Ignacio; Maiques, Alba; Acquadro, Francesco; Rodriguez Perales, Sandra; Calasanz, María José; Roman-Gómez, Jose; Siebert, Reiner; Mulloy, James C.; Cervera, José; Sanz, Miguel Angel; Esteller, Manel; Cigudosa, Juan C.

    2010-01-01

    Background Aberrant promoter DNA methylation has been shown to play a role in acute myeloid leukemia (AML) pathophysiology. However, further studies to discuss the prognostic value and the relationship of the epigenetic signatures with defined genomic rearrangements in acute myeloid leukemia are required. Methodology/Principal Findings We carried out high-throughput methylation profiling on 116 de novo AML cases and we validated the significant biomarkers in an independent cohort of 244 AML cases. Methylation signatures were associated with the presence of a specific cytogenetic status. In normal karyotype cases, aberrant methylation of the promoter of DBC1 was validated as a predictor of the disease-free and overall survival. Furthermore, DBC1 expression was significantly silenced in the aberrantly methylated samples. Patients with chromosome rearrangements showed distinct methylation signatures. To establish the role of fusion proteins in the epigenetic profiles, 20 additional samples of human hematopoietic stem/progenitor cells (HSPC) transduced with common fusion genes were studied and compared with patient samples carrying the same rearrangements. The presence of MLL rearrangements in HSPC induced the methylation profile observed in the MLL-positive primary samples. In contrast, fusion genes such as AML1/ETO or CBFB/MYH11 failed to reproduce the epigenetic signature observed in the patients. Conclusions/Significance Our study provides a comprehensive epigenetic profiling of AML, identifies new clinical markers for cases with a normal karyotype, and reveals relevant biological information related to the role of fusion proteins on the methylation signature. PMID:20808941

  17. Relationships of the Woody Medicago Species (Section Dendrotelis) Assessed by Molecular Cytogenetic Analyses

    PubMed Central

    Rosato, Marcela; Castro, Mercedes; Rosselló, Josep A.

    2008-01-01

    Background and Aims The organization of rDNA genes in the woody medic species from the agronomically important Medicago section Dendrotelis was analysed to gain insight into their taxonomic relationships, to assess the levels of infraspecific variation concerning ribosomal loci in a restricted and fragmented insular species (M. citrina) and to assess the nature of its polyploidy. Methods Fluorescence in situ hybridization (FISH) was used for physical mapping of 5S and 45S ribosomal DNA genes in the three species of section Dendrotelis (M. arborea, M. citrina, M. strasseri) and the related M. marina from section Medicago. Genomic in situ hybridization (GISH) was used to assess the genomic relationships of the polyploid M. citrina with the putatively related species from section Dendrotelis. Key Results The diploid (2n = 16) M. marina has a single 45S and two 5S rDNA loci, a pattern usually detected in previous studies of Medicago diploid species. However, polyploid species from section Dendrotelis depart from expectations. The tetraploid species (2n = 32) M. arborea and M. strasseri have one 45S rDNA locus and two 5S rDNA loci, whereas in the hexaploid (2n = 48) M. citrina four 45S rDNA and five 5S rDNA loci have been detected. No single chromosome of M. citrina was uniformly labelled after using genomic probes from M. arborea and M. strasseri. Instead, cross-hybridization signals in M. citrina were restricted to terminal chromosome arms and NOR regions. Conclusions FISH results support the close taxonomic interrelationship between M. arborea and M. strasseri. In these tetraploid species, NOR loci have experienced a diploidization event through physical loss of sequences, a cytogenetic feature so far not reported in other species of the genus. The high number of rDNA loci and GISH results support the specific status for the hexaploid M. citrina, and it is suggested that this species is not an autopolyploid derivative of M. arborea or M. strasseri. Further, molecular

  18. Molecular Cytogenetic Characterization of the Dioecious Cannabis sativa with an XY Chromosome Sex Determination System

    PubMed Central

    Divashuk, Mikhail G.; Alexandrov, Oleg S.; Razumova, Olga V.; Kirov, Ilya V.; Karlov, Gennady I.

    2014-01-01

    Hemp (Cannabis sativa L.) was karyotyped using by DAPI/C-banding staining to provide chromosome measurements, and by fluorescence in situ hybridization with probes for 45 rDNA (pTa71), 5S rDNA (pCT4.2), a subtelomeric repeat (CS-1) and the Arabidopsis telomere probes. The karyotype has 18 autosomes plus a sex chromosome pair (XX in female and XY in male plants). The autosomes are difficult to distinguish morphologically, but three pairs could be distinguished using the probes. The Y chromosome is larger than the autosomes, and carries a fully heterochromatic DAPI positive arm and CS-1 repeats only on the less intensely DAPI-stained, euchromatic arm. The X is the largest chromosome of all, and carries CS-1 subtelomeric repeats on both arms. The meiotic configuration of the sex bivalent locates a pseudoautosomal region of the Y chromosome at the end of the euchromatic CS-1-carrying arm. Our molecular cytogenetic study of the C. sativa sex chromosomes is a starting point for helping to make C. sativa a promising model to study sex chromosome evolution. PMID:24465491

  19. Cytogenetic analysis of two locariid species (Teleostei, Siluriformes) from Iguatemi River (Parana River drainage) in Brazil

    PubMed Central

    Fernandes, Carlos Alexandre; Alves, Diandra Soares; Guterres, Zaira da Rosa; Martins-Santos, Isabel Cristina

    2015-01-01

    Abstract Fishes of the Loricariidae family, known as “cascudos”, constitute an endemic group in Neotropical freshwaters. In this study, were cytogenetically examined two species of Loricariidae (Pterygoplichthys anisitsi Eigenmann & Kennedy, 1903 and Farlowella amazonum (Günther, 1864) belonging to Hypostominae and Loricariinae subfamilies respectively) from Iguatemi River. Our study provide the first description regarding C-band and fluorochromic analysis in Farlowella amazonum. In Farlowella amazonum, diploid number was 58 chromosomes, with single Ag-NOR and heterochromatic blocks in centromeric regions of some chromosomes and large subtelomeric blocks were evidenced on the long arm of the pair 27, being this region CMA3+/DAPI-. The Pterygoplichthys anisitsi showed diploid number equal 52 chromosomes, with single Ag-NOR and heterochromatic blocks in centromeric and telomeric regions of some chromosomes and conspicuous large telomeric blocks on the long arm of the pair 10, being this region CMA3+/DAPI-. The results show that karyotype formula is nonconservative in Pterygoplichthys anisitsi and Farlowella amazonum. PMID:25893075

  20. The importance of age and smoking in evaluating adverse cytogenetic effects of exposure to environmental agents

    SciTech Connect

    Tucker, J.D.; Moore, D.H. II

    1995-08-01

    Fluorescence in situ hybridization with chromosome-specific composite DNA probes (``chromosome painting``) is a reliable and efficient method for detecting structural chromosome aberrations. Painting is now being used to quantify chromosome damage in many human populations. In one such study we evaluated 91 unexposed people ranging in age from birth (cord bloods) to 79. We established a baseline frequency of stable aberrations that showed a highly significant curvi-linear increase with age (p < 0.00001) that accounted for 70% of the variance between donors. The magnitude of this effect illustrates the importance of understanding the cytogenetic changes that occur with age, which is particularly important for quantifying the effects of prior adverse environmental, occupational, or accidental exposure. In this paper we use the data obtained in our previous study to characterize the distribution of stable aberrations by age and pack-years of cigarette smoking. We also provide estimates of the number of cell equivalents that need to be scored to detect a given increase in aberrations above the background level surveyed in this population.

  1. Cytogenetic effects of space radiation in lymphocytes of MIR-18 crews

    NASA Technical Reports Server (NTRS)

    Yang, T. C.; George, K.; Johnson, A. S.; Tavakoli, A.; Durante, M.; Fedorenko, B. S.

    1997-01-01

    For assessing health risk, the measurement of physical dose received during a space mission, as well as the LETs, energies and charges of particles is important. It is also important to obtain quantitative information regarding the effectiveness of space radiation in causing damage to critical biological targets, e.g., chromosomes, since at present the estimated uncertainty of biological effects of space radiation is more than a factor of two. Such large uncertainty makes accurate health risk assessment very difficult. For this very reason, a study on cytogenetic effects of space radiation in human lymphocytes was proposed and done for MIR-18 mission. This study used FISH technique to score chromosomal translocations and C-banding method to determine dicentrics. Growth kinetics of cells and SCE were examined to ensure that chromosomal aberrations were scored in first mitosis and were induced not by chemical mutagens. Our results showed that chromosomal aberration frequency of post-flight samples was significantly higher than that of pre-flight ones and that SCE frequency was similar between pre- and post-flight samples. Based on a dose-response curve of preflight samples exposed to gamma rays, the absorbed dose received by crews during the mission was estimated to be about 14.5 cSv. Because the absorbed dose measured by physical dosimeters is 4.16 cGy for the entire mission, the RBE is about 3.5.

  2. Cytogenetic findings in mouse multiple myeloma and Waldenström's macroglobulinemia.

    PubMed

    van den Akker, T W; Radl, J; Franken-Postma, E; Hagemeijer, A

    1996-02-01

    Multiple myeloma (MM) and Waldenstrom's macroglobulinemia-like lymphoma (MW) appear spontaneously in C57BL/KaLwRij mice at a frequency of 0.5% and 0.2%, respectively. They can readily be propagated by intravenous transfer of mainly bone marrow or spleen cells into syngeneic recipients. Previous studies demonstrated that these mouse malignant monoclonal gammopathies (MMG) show clinical and biologic features that closely resemble those of the corresponding human diseases and thus could be used as experimental models. We report on cytogenetic analysis of two mouse MW and five MM in vivo cell lines of the 5TMM series propagated in syngeneic mice. These studies demonstrated clonal abnormalities in all cell lines, hyperdiploid karyotype in both MW and one MM lines, and hypotriploidy, hypertriploidy, or hypotetraploidy in the other lines. Structural abnormalities of chromosome 15 were observed in all MM lines. In five MM lines, frequent rearrangements were also found for chromosome numbers 1, 2, 5, and 12. A single chromosomal abnormality, as found in induced mouse plasmacytomas and resembling Burkitt lymphoma, was not found in mouse MM and MW. It was concluded that spontaneously originating C57BL MM of the 5T series is a better model for human MM than pristane-induced BALB/c or NZB plasmacytoma. PMID:8603345

  3. High resolution comparative genomic hybridisation in clinical cytogenetics

    PubMed Central

    Kirchhoff, M.; Rose, H.; Lundsteen, C.

    2001-01-01

    High resolution comparative genomic hybridisation (HR-CGH) is a diagnostic tool in our clinical cytogenetics laboratory. The present survey reports the results of 253 clinical cases in which 47 abnormalities were detected. Among 144 dysmorphic and mentally retarded subjects with a normal conventional karyotype, 15 (10%) had small deletions or duplications, of which 11 were interstitial. In addition, a case of mosaic trisomy 9 was detected. Among 25 dysmorphic and mentally retarded subjects carrying apparently balanced de novo translocations, four had deletions at translocation breakpoints and two had deletions elsewhere in the genome. Seventeen of 19 complex rearrangements were clarified by HR-CGH. A small supernumerary marker chromosome occurring with low frequency and the breakpoint of a mosaic r(18) case could not be clarified. Three of 19 other abnormalities could not be confirmed by HR-CGH. One was a Williams syndrome deletion and two were DiGeorge syndrome deletions, which were apparently below the resolution of HR-CGH. However, we were able to confirm Angelman and Prader-Willi syndrome deletions, which are about 3-5 Mb. We conclude that HR-CGH should be used for the evaluation of (1) dysmorphic and mentally retarded subjects where normal karyotyping has failed to show abnormalities, (2) dysmorphic and mentally retarded subjects carrying apparently balanced de novo translocations, (3) apparently balanced de novo translocations detected prenatally, and (4) for clarification of complex structural rearrangements.


Keywords: comparative genomic hybridisation; chromosome analysis; chromosome aberrations; dysmorphism PMID:11694545

  4. Induction and repair of HZE induced cytogenetic damage

    NASA Technical Reports Server (NTRS)

    Brooks, A. L.; Bao, S.; Rithidech, K.; Chrisler, W. B.; Couch, L. A.; Braby, L. A.

    2001-01-01

    Wistar rats were exposed to high-mass, high energy (HZE) 56Fe particles (1000 GeV/AMU) using the Alternating Gradient Synchrotron (AGS). The animals were sacrificed at 1-5 hours or after a 30-day recovery period. The frequency of micronuclei in the tracheal and the deep lung epithelial cells were evaluated. The relative effectiveness of 56Fe, for the induction of initial chromosome damage in the form of micronuclei, was compared to damage produced in the same biological system exposed to other types of high and low-LET radiation. It was demonstrated that for animals sacrificed at short times after exposure, the tracheal and lung epithelial cells, the 56Fe particles were 3.3 and 1.3 times as effective as 60Co in production of micronuclei, respectively. The effectiveness was also compared to that for exposure to inhaled radon. With this comparison, the 56Fe exposure of the tracheal epithelial cells and the lung epithelial cells were only 0.18 and 0.20 times as effective as radon in the production of the initial cytogenetic damage. It was suggested that the low relative effectiveness was related to potential for 'wasted energy' from the core of the 56Fe particles. When the animals were sacrificed after 30 days, the slopes of the dose-response relationships, which reflect the remaining level of damage, decreased by a factor of 10 for both the tracheal and lung epithelial cells. In both cases, the slope of the dose-response lines were no longer significantly different from zero, and the r2 values were very high. Lung epithelial cells, isolated from the animals sacrificed hours after exposure, were maintained in culture, and the micronuclei frequency evaluated after 4 and 6 subcultures. These cells were harvested at 24 and 36 days after the exposure. There was no dose-response detected in these cultures and no signs of genomic instability at either sample time.

  5. Comparative cytogenetics between the species Passiflora edulis and Passiflora cacaoensis.

    PubMed

    Viana, A J C; Souza, M M

    2012-09-01

    Passiflora edulis Sims is the most economically important species of the genus Passiflora. A new species was described recently, Passiflora cacaoensis Bernacci & Souza, which displayed morphologic characteristics very similar to P. edulis. Due to the need for delimitation of the two species, karyomorphological and banding analyses were carried out. Both species have 2n = 18, with the same karyotype formula 16 m + 2sm. There was variation between the species regarding the location of satellites and the width of chromosome pairs 2, 4 and 8. C banding revealed the presence of constitutive heterochromatin in the centromeric and telomeric regions of all chromosomes in both species. However, only in P. cacaoensis did chromosomes 3 and 9 have a large quantity of heterochromatin. Fluorochrome banding revealed CMA(+) bands only in the satellites, but no DAPI(+) bands. Fluorescence in situ hybridisation (FISH) showed that in P. cacaoensis the rDNA 5S probe is located in a single site in the subterminal position of the long arm of chromosome 5. However, for the rDNA 45S probe, two sites were detected in terminal positions of the long arms of chromosome 7, with a bigger and stronger signal, and of chromosome 9. According to the asymmetry index and the quantity of heterochromatin, P. cacaoensis is a more basal species than P. edulis. The cytogenetic data indicate that P. cacaoensis is closely related to P. edulis, but is a different species. PMID:22404746

  6. Malignant granular cell tumor of the lateral femoral cutaneous nerve: report of a case with cytogenetic analysis.

    PubMed

    Di Tommaso, Luca; Magrini, Elisabetta; Consales, Alessandro; Poppi, Massimo; Pasquinelli, Gianandrea; Dorji, Tsering; Benedetti, Giovanni; Baccarini, Paola

    2002-12-01

    Malignant granular cell tumors (MGCTs) are rare neoplasms of uncertain histogenesis. We report a case of MGCT involving a peripheral nerve with peritoneal and omental dissemination in which cytogenetic findings are available. Our results show that MGCTs share some cytogenetic abnormalities with malignant peripheral nerve sheath tumors (MPNSTs), supporting the hypothesis that they may represent histogenetically related lesions. PMID:12514794

  7. Cytogenetic and molecular genetic demonstration of polyclonality in an acinic cell carcinoma.

    PubMed Central

    Jin, C.; Jin, Y.; Höglund, M.; Wennerberg, J.; Akervall, J.; Willén, R.; Dictor, M.; Mandahl, N.; Mitelman, F.; Mertens, F.

    1998-01-01

    The paradigm that human malignancies are monoclonal has been questioned during recent years by the finding of unrelated, cytogenetically aberrant clones in short-term cultures from certain tumour types, notably carcinomas of the breast, skin and upper aerodigestive tract. In order to analyse whether cytogenetically unrelated clones are also unrelated at the molecular level, we analysed the X-chromosome inactivation status in cell cultures from a cytogenetically highly polyclonal acinic cell carcinoma of the parotid gland. By using cell cultures dominated by a single abnormal clone, obtained through in vitro culturing for 3-5 passages, we showed that the different clones must indeed have originated from different cells. Images Figure 2 PMID:9703273

  8. ST1571 (imatinib mesylate) reduces bone marrow cellularity and normalizes morphologic features irrespective of cytogenetic response.

    PubMed

    Hasserjian, Robert P; Boecklin, Federica; Parker, Sally; Chase, Andy; Dhar, Sunanda; Zaiac, Michael; Olavarria, Eduardo; Lampert, Irvin; Henry, Kristin; Apperley, Jane F; Goldman, John M

    2002-03-01

    The tyrosine kinase inhibitor STI571 (imatinib mesylate, Gleevec) is an effective treatment for chronic myeloid leukemia (CML). We examined bone marrow samples from 53 patients with CML who were receiving STI571 in 3 multicenter phase 2 trials to assess morphologic changes and cytogenetic response to this drug. In most patients with initially increased blasts, the bone marrow blast count rapidly decreased during STI571 therapy. Reductions in cellularity, the myeloid/erythroid ratio (commonly with relative erythroid hyperplasia), and reticulin fibrosis (if present pretreatment) also were seen in most patients, resulting in an appearance resembling normal marrow in many cases. Eighteen patients (34%) had some degree of cytogenetic response. Surprisingly, these striking morphologic changes occurred irrespective of any cytogenetic response to STI571. Thus, STI571 seems to affect the differentiation of CML cells in vivo, causing even extensively Philadelphia chromosome-positive hematopoiesis to exhibitfeatures resembling normal hematopoiesis. PMID:11888075

  9. Cytogenetic Response to Ionizing Radiation Exposure in Human Fibroblasts with Suppressed Expression of Non-DSB Repair Genes

    NASA Technical Reports Server (NTRS)

    Zhang, Ye; Rohde, Larry H.; Emami, Kamal; Hammond, Dianne; Mehta, Satish K.; Jeevarajan, Antony S.; Pierson, Duane L.; Wu, Honglu

    2009-01-01

    Changes of gene expression profile are one of the most important biological responses in living cells after ionizing radiation (IR) exposure. Although some studies have shown that genes up-regulated by IR may play important roles in DNA damage repair, the relationship between the regulation of gene expression by IR, particularly genes not known for their roles in double-strand break (DSB) repair, and its impact on cytogenetic responses has not been well studied. The purpose of this study is to identify new roles of IR inducible genes in radiation-induced chromosome aberrations and micronuclei formation. In the study, the expression of 25 genes selected on the basis of their transcriptional changes in response to IR was individually knocked down by small interfering RNA in human fibroblast cells. Frequencies of micronuclei (MN) formation and chromosome aberrations were measured to determine the efficiency of cytogenetic repair, and the fraction of bi-nucleated cells in the MN analysis was used as a marker for cell cycle progression. In response to gamma radiation, the formation of MN was significantly increased by suppressed expression of five genes: Ku70 (DSB repair pathway), XPA (nucleotide excision repair pathway), RPA1 (mismatch repair pathway), RAD17 and RBBP8 (cell cycle control). Knocked-down expression of four genes (MRE11A, RAD51 in the DSB pathway, SESN1, and SUMO1) significantly inhibited cell cycle progression, possibly because of severe impairment of DNA damage repair. Moreover, decreased XPA, p21, or MLH1 expression resulted in both significantly enhanced cell cycle progression and increased yields of chromosome aberrations, indicating that these gene products modulate both cell cycle control and DNA damage repair. Nine of these eleven genes, whose knock-down expression affected cytogenetic repair, were up-regulated in cells exposed to gamma radiation, suggesting that genes transcriptionally modulated by IR were critical to regulate IR

  10. Quantum speciation in Aegilops: Molecular cytogenetic evidence from rDNA cluster variability in natural populations

    PubMed Central

    Raskina, Olga; Belyayev, Alexander; Nevo, Eviatar

    2004-01-01

    Data are presented on quantum speciation in the Sitopsis section of the genus Aegilops (Poaceae, Monocotyledones). Two small, peripheral, isolated, wild populations of annual cross-pollinated Ae. speltoides and annual self-pollinated Ae. sharonensis are located 30 m apart on different soil types. Despite the close proximity of the two species and their close relatedness, no mixed groups are known. Comparative molecular cytogenetic analysis based on the intrapopulation variability of rRNA-encoding DNA (rDNA) chromosomal patterns of individual Ae. speltoides geno-types revealed an ongoing dynamic process of permanent chromosomal rearrangements. Chromosomal mutations can arise de novo and can be eliminated. Analysis of the progeny of the investigated genotypes testifies that inheritance of de novo rDNA sites happens frequently. Heterologous recombination and/or transposable elements-mediated rDNA transfer seem to be the mechanisms for observed chromosomal repatterning. Consequently, several modified genomic forms, intermediate between Ae. speltoides and Ae. sharonensis, permanently arise in the studied wild population of Ae. speltoides, which make it possible to recognize Ae. sharonensis as a derivative species of Ae. speltoides, as well as to propose rapidness and canalization of quantum speciation in Sitopsis species. PMID:15466712

  11. DNA intercalative potential of marketed drugs testing positive in in vitro cytogenetics assays.

    PubMed

    Snyder, Ronald D; Ewing, Douglas; Hendry, Lawrence B

    2006-10-10

    We have previously noted that the Physicians' Desk Reference (PDR) contains over 80 instances in which a drug elicited a positive genotoxic response in one or more in vitro assays, despite having no obvious structural features predictive of covalent drug/DNA interactive potential or known mechanistic basis. Furthermore, in most cases, these drugs were "missed" by computational genotoxicity-predicting models such as DEREK, MCASE and TOPKAT. We have previously reported the application of a V79 cell-based model and a 3D DNA docking model for predicting non-covalent chemical/DNA interactions. Those studies suggested that molecules that are very widely structurally diverse may be capable of intercalating into DNA. To determine whether such non-covalent drug/DNA interactions might be involved in unexpected drug genotoxicity, we evaluated, using both models where possible, 56 marketed pharmaceuticals, 40 of which were reported as being clastogenic in in vitro cytogenetics assays (chromosome aberrations/mouse lymphoma assay). As seen before, the two approaches showed good concordance (62%) and 26 of the 40 (65%) drugs exhibiting in vitro clastogenicity were predicted as intercalators by one or both methods. This finding provides support for the hypothesis that non-covalent DNA interaction may be a common mechanism of clastogenicity for many drugs having no obvious structural alerts for covalent DNA interaction. PMID:16857419

  12. Polymorphism of cytogenetic markers in wild and farm red fox (Vulpes vulpes) populations.

    PubMed

    Bugno-Poniewierska, Monika; Sołek, Przemysław; Potocki, Leszek; Pawlina, Klaudia; Wnuk, Maciej; Jezewska-Witkowska, Grazyna; Słota, Ewa

    2013-01-01

    Analysis of the origin of domestic animals is of wide interest and has many practical applications in areas such as agriculture and evolutionary biology. Identification of an ancestor and comparison with the domesticated form allows for an analysis of genetic, physiological, morphological and behavioral effects of domestication. Because fox breeding has been an ongoing process for over a century, differences are expected between farm and wild populations at the chromosomal level. The aim of this work was to analyse polymorphisms at the chromosomal level in foxes raised on farms and those living in the wild. Blood samples and lung tissue served as the experimental material and were obtained after slaughter of 35 foxes, including 28 breeding animals and 7 wild animals. The classical cytogenetic method was used including AgNOR technique, as well as molecular methods such as fluorescence in situ hybridization (FISH), and primed in situ labeling (PRINS). Analysis of the number of B chromosomes showed the presence of polymorphisms in foxes from both studied populations, but there was no correlation between the number of B chromosomes and the origin and gender of particular animals. An analysis ofactive nucleolar organizers showed the presence of a large number of polymorphisms and a tendency towards reduction of the number of NORs in the captive-raised population. PMID:24279163

  13. Alternative lengthening of telomeres: recurrent cytogenetic aberrations and chromosome stability under extreme telomere dysfunction.

    PubMed

    Sakellariou, Despoina; Chiourea, Maria; Raftopoulou, Christina; Gagos, Sarantis

    2013-11-01

    Human tumors using the alternative lengthening of telomeres (ALT) exert high rates of telomere dysfunction. Numerical chromosomal aberrations are very frequent, and structural rearrangements are widely scattered among the genome. This challenging context allows the study of telomere dysfunction-driven chromosomal instability in neoplasia (CIN) in a massive scale. We used molecular cytogenetics to achieve detailed karyotyping in 10 human ALT neoplastic cell lines. We identified 518 clonal recombinant chromosomes affected by 649 structural rearrangements. While all human chromosomes were involved in random or clonal, terminal, or pericentromeric rearrangements and were capable to undergo telomere healing at broken ends, a differential recombinatorial propensity of specific genomic regions was noted. We show that ALT cells undergo epigenetic modifications rendering polycentric chromosomes functionally monocentric, and because of increased terminal recombinogenicity, they generate clonal recombinant chromosomes with interstitial telomeric repeats. Losses of chromosomes 13, X, and 22, gains of 2, 3, 5, and 20, and translocation/deletion events involving several common chromosomal fragile sites (CFSs) were recurrent. Long-term reconstitution of telomerase activity in ALT cells reduced significantly the rates of random ongoing telomeric and pericentromeric CIN. However, the contribution of CFS in overall CIN remained unaffected, suggesting that in ALT cells whole-genome replication stress is not suppressed by telomerase activation. Our results provide novel insights into ALT-driven CIN, unveiling in parallel specific genomic sites that may harbor genes critical for ALT cancerous cell growth. PMID:24339742

  14. Cytogenetic effects of leachates from tannery solid waste on the somatic cells of Vicia faba.

    PubMed

    Chandra, Saurabh; Chauhan, L K S; Pande, P N; Gupta, S K

    2004-04-01

    The contamination of surface- and groundwater by the leaching of solid wastes generated by industrial activities as a result of water runoff and rainfall is a matter of great concern. The leachates from tannery solid waste (TSW), a major environmental pollutant, were examined for their possible genotoxic effects on the somatic cells of Vicia faba. Leachates were prepared from solid wastes procured from leather-tanning industrial sites, and V. faba seedlings were exposed to three test concentrations, 2.5%, 5%, and 10%, through soil and aqueous media for 5 days. The root tips examined for cytogenetic damage revealed that leachate of TSW significantly inhibited the mitotic index and induced significantly frequent chromosomal and mitotic aberrations (CA/MA) in a dose-dependent manner. The chemical analysis of TSW samples revealed that the chief constituents were chromium and nickel, which may cause genetic abnormalities. The frequency of aberrations was found to be higher in the root meristematic cells of Vicia faba exposed through the aqueous medium than those exposed through the soil medium. The results of the present study indicated that contamination of potable water bodies by leachates of TSW may cause genotoxicity. For the biomonitoring of complex mixtures of toxicants with the V. faba bioassay, the use of the aqueous medium seems to be a more promising method than the use of the soil medium. PMID:15037999

  15. Molecular cytogenetic analysis of human blastocysts andcytotrophoblasts by multi-color FISH and Spectra Imaging analyses

    SciTech Connect

    Weier, Jingly F.; Ferlatte, Christy; Baumgartner, Adolf; Jung,Christine J.; Nguyen, Ha-Nam; Chu, Lisa W.; Pedersen, Roger A.; Fisher,Susan J.; Weier, Heinz-Ulrich G.

    2006-02-08

    Numerical chromosome aberrations in gametes typically lead to failed fertilization, spontaneous abortion or a chromosomally abnormal fetus. By means of preimplantation genetic diagnosis (PGD), we now can screen human embryos in vitro for aneuploidy before transferring the embryos to the uterus. PGD allows us to select unaffected embryos for transfer and increases the implantation rate in in vitro fertilization programs. Molecular cytogenetic analyses using multi-color fluorescence in situ hybridization (FISH) of blastomeres have become the major tool for preimplantation genetic screening of aneuploidy. However, current FISH technology can test for only a small number of chromosome abnormalities and hitherto failed to increase the pregnancy rates as expected. We are in the process of developing technologies to score all 24 chromosomes in single cells within a 3 day time limit, which we believe is vital to the clinical setting. Also, human placental cytotrophoblasts (CTBs) at the fetal-maternal interface acquire aneuploidies as they differentiate to an invasive phenotype. About 20-50% of invasive CTB cells from uncomplicated pregnancies were found aneuploidy, suggesting that the acquisition of aneuploidy is an important component of normal placentation, perhaps limiting the proliferative and invasive potential of CTBs. Since most invasive CTBs are interphase cells and possess extreme heterogeneity, we applied multi-color FISH and repeated hybridizations to investigate individual CTBs. In summary, this study demonstrates the strength of Spectral Imaging analysis and repeated hybridizations, which provides a basis for full karyotype analysis of single interphase cells.

  16. [Retrospective Cytogenetic Dose Evaluation. II. Computer Data Processing in Persons Irradiated in Different Radiation Accidents].

    PubMed

    Nugis, V Yu; Khvostunov, I K; Goloub, E V; Kozlova, M G; Nadejinal, N M; Galstian, I A

    2015-01-01

    The method for retrospective dose assessment based on the analysis of cell distribution by the number of dicentrics and unstable aberrations using a special computer program was earlier developed based on the data about the persons irradiated as a result of the accident at the Chernobyl nuclear power plant. This method was applied for the same purpose for data processing of repeated cytogenetic studies of the patients exposed to γ-, γ-β- or γ-neutron radiation in various situations. As a whole, this group was followed up in more distant periods (17-50 years) after exposure than Chernobyl patients (up to 25 years). The use for retrospective dose assessment of the multiple regression equations obtained for the Chernobyl cohort showed that the equation, which includes computer recovered estimate of the dose and the time elapsed after irradiation, was generally unsatisfactory (r = 0.069 at p = 0.599). Similar equations with recovered estimate of the dose and frequency of abnormal chromosomes in a distant period or with all three parameters as variables gave better results (r = 0.686 at p = 0.000000001 and r = 0.542 at p = 0.000008, respectively). PMID:26863777

  17. Cytogenetic characterization of HB2 epithelial cells from the human breast.

    PubMed

    Caradonna, Fabio; Luparello, Claudio

    2014-01-01

    HB2 is a cell line originated by subcloning of MTSV1-7 mammary luminal epithelial cells isolated from human milk and immortalization via introduction of the gene encoding simian virus 40 (SV40) large T antigen. Despite its wide utilization as non-neoplastic counterpart in assays aimed to elucidating various biochemical and genetical aspects of normal and tumoral breast cells, to our knowledge no literature data have so far appeared concerning the chromosomal characterization of the HB2 cells. Here, we report the cytogenetic characterization of the karyotype of HB2 cells, which puts in evidence the occurrence of changes in chromosomal number and structure and the presence of unidentified chromosomal markers in variable amount. Our results do not detract from the utility of HB2 cells in illustrating fundamental aspects of breast cell biology, but rather interject a note of caution into generalizing results obtained with this cell line to other non-immortalized epithelial cell populations from the human breast. Therefore, this work represents a useful resource for all who want to perform appropriate and focused future studies on this cell line and proposes precise indications for a knowledgeable use of HB2 cells. PMID:23982912

  18. Molecular Cytogenetics in Trough Shells (Mactridae, Bivalvia): Divergent GC-Rich Heterochromatin Content.

    PubMed

    García-Souto, Daniel; Pérez-García, Concepción; Kendall, Jack; Pasantes, Juan J

    2016-01-01

    The family Mactridae is composed of a diverse group of marine organisms, commonly known as trough shells or surf clams, which illustrate a global distribution. Although this family includes some of the most fished and cultured bivalve species, their chromosomes are poorly studied. In this work, we analyzed the chromosomes of Spisula solida, Spisula subtruncata and Mactra stultorum by means of fluorochrome staining, C-banding and fluorescent in situ hybridization using 28S ribosomal DNA (rDNA), 5S rDNA, H3 histone gene and telomeric probes. All three trough shells presented 2n = 38 chromosomes but different karyotype compositions. As happens in most bivalves, GC-rich regions were limited to the nucleolus organizing regions in Spisula solida. In contrast, many GC-rich heterochromatic bands were detected in both Spisula subtruncata and Mactra stultorum. Although the three trough shells presented single 5S rDNA and H3 histone gene clusters, their chromosomal locations differed. Regarding major rDNA clusters, while Spisula subtruncata presented a single cluster, both Spisula solida and Mactra stultorum showed two. No evidence of intercalary telomeric signals was detected in these species. The molecular cytogenetic characterization of these taxa will contribute to understanding the role played by chromosome changes in the evolution of trough shells. PMID:27537915

  19. Ameliorative effect of grapefruit juice on amiodarone-induced cytogenetic and testicular damage in albino rats

    PubMed Central

    Sakr, Saber Abdelruhman; Zoil, Mohamed El-said; El-shafey, Samraa Samy

    2013-01-01

    Objective To evaluate the ameliorative role of grapefruit juice on the cytogenetic and testicular damage induced by the antiarrythmic drug amiodarone in albino rats. Methods Animals were divided into four groups. Group I was considered as control. Group II was given grapefruit juice at a dose level of 27 mL/kg body weight. Group III was orally administered amiodarone (18 mg/kg body weight) daily for 5 weeks. Animals were sacrificed after 5 weeks of treatment. Bone marrow was collected from the femurs for analysis of chromosomal aberrations and mitotic indices. Testes were removed and stained with H&E for histological examination. Sperms were collected from epidedymis for detection of sperm head abnormalities. Comet assay was used to detect DNA damage. Results Amiodarone treatment caused a significant increase in the percentage of chromosomal aberrations, decreased the mitotic index and increased DNA damage. The testis showed many histopathological alterations, inhibition of spermatogenesis and morphometric changes. The number of sperm head abnormalities was increased. Treating animals with amiodarone and grapefruit juice caused a reduction in chromosomal aberrations, mitotic index, DNA damage and testicular alterations caused by amiodarone. Conclusions The results of this study indicated that grapefruit juice ameliorates the cytotoxicty and testicular alterations induced by amiodarone in albino rats and this is may be due to the potent antioxidant effects of its components. PMID:23836512

  20. Cytogenetic effects of cigarette smoke on pulmonary alveolar macrophages of the rat

    SciTech Connect

    Rithidech, K.; Chen, B.T.; Mauderly, J.L.; Whorton, E.B. Jr.; Brooks, A.L. )

    1989-01-01

    To determine accurately the potential genetic damage induced by toxic inhaled agents, the cells that receive a high concentration of such agents should be analyzed. Pulmonary alveolar macrophages (PAMs) represent such cells. The authors compared the cytogenetic effects of cigarette smoke on PAMs of rats exposed repeatedly by different methods. This study was part of a larger investigation of the health effects resulting from different methods of exposing rats to cigarette smoke. Fischer 344/N male rats were randomly selected from five different exposure groups. The rats were exposed 6 hr/day, 5 days/week for 22-24 days. All smoke-exposed rats received the same daily concentrations {times} time product of cigarette smoke. Rats were injected intraperitoneally with colchicine at the end of exposure. PAMs were obtained by lung lavage and chromosomal damage was measured. Highly significant smoke-induced differences in both structural and numerical aberrations were observed in continuously exposed rats vs. sham controls, regardless route of exposure. The structural aberrations observed were chromatid-type deletions. Both hypoploid and hyperploid cells were detected. The data suggest that cigarette smoke is clastogenic and may disrupt spindle-fiber formation. These activities may play a role in the induction of human carcinogenesis caused by cigarette smoke exposure.

  1. Cytogenetic methods for assessing human exposure to toluene in Coimbatore, South India.

    PubMed

    Manikantan, Pappuswamy; Balachanadar, Vellinggiri; Sasikala, Keshavarao; Mohanadevi, Subramanium; Arun, Meyyazhagan; Kumar, Alagamuthu Karthick; Khan Mustaq Ahamed, Shafi Ahammed; Krishnan, Balasubramanian Balamurali; Kumar, Shanmugam Suresh

    2010-01-01

    The aim of the present study was to identify genetic alterations occurring in rotograving workers chronically exposed to toluene. A total of 60 samples from 30 exposed subjects and 30 age-matched controls, selected based on the toluene level present in their urine, were recruited. Exposed subjects were categorized based on their duration of exposure and smoking habitats. Controls were normal and healthy and categorized based on their smoking habits. Cell cultures were established from blood samples collected from the control and experimental subjects after obtaining informed consent. G-banding and comet assays were used to identify genetic alterations. A higher degree of total chromosome aberration was identified in exposed subjects compared to controls. As expected, controls exhibited minimal number of alterations. The overall CA frequency due to toluene exposure was significantly different from that of the controls for both chromatid and chromosome type aberrations (P\\0.05 by ANOVA). . The habit of cigarette smoking among the workers had a synergistic effect on inducing DNA damage. In conclusion, this work shows a clear genotoxic effect associated with toluene exposure, our results also reinforcing the conclusion of higher sensitivity of cytogenetic assays for the biomonitoring of occupationally exposed populations. There is a strong need to educate those who work with potentially hazardous materials about adverse effects and highlight the importance of using protective measures. PMID:21338217

  2. Linking the human cytogenetic map with nucleotide sequence: the CCAP clone set.

    PubMed

    Jang, Wonhee; Yonescu, Raluca; Knutsen, Turid; Brown, Theresa; Reppert, Tricia; Sirotkin, Karl; Schuler, Gregory D; Ried, Thomas; Kirsch, Ilan R

    2006-07-15

    We present the completed dataset and clone repository of the Cancer Chromosome Aberration Project (CCAP), an initiative developed and funded through the intramural program of the U.S. National Cancer Institute, to provide seamless linkage of human cytogenetic markers with the primary nucleotide sequence of the human genome. Spaced at 1-2 Mb intervals across the human genome, 1,339 bacterial artificial chromosome (BAC) clones have been localized to chromosomal bands through high-resolution fluorescence in situ hybridization (FISH) mapping. Of these clones, 99.8% can be positioned on the primary human genome sequence and 95% are placed at or close to their precise nucleotide starts and stops. This dataset can be studied and manipulated within generally available public Web sites. The clones are available from a commercial repository. The CCAP BAC clone set provides anchors for the interrogation of gene and sequence involvement in oncogenic and developmental disorders when the starting point is the recognition of a structural, numerical, or interstitial chromosomal aberration. This dataset also provides a current view of the quality and coherence of the available genome sequence and insight into the nucleotide and three-dimensional structures that manifest as Giemsa light and dark chromosomal banding patterns. PMID:16843097

  3. A novel integrated cytogenetic and genomic classification refines risk stratification in pediatric acute lymphoblastic leukemia.

    PubMed

    Moorman, Anthony V; Enshaei, Amir; Schwab, Claire; Wade, Rachel; Chilton, Lucy; Elliott, Alannah; Richardson, Stacey; Hancock, Jeremy; Kinsey, Sally E; Mitchell, Christopher D; Goulden, Nicholas; Vora, Ajay; Harrison, Christine J

    2014-08-28

    Recent genomic studies have provided a refined genetic map of acute lymphoblastic leukemia (ALL) and increased the number of potential prognostic markers. Therefore, we integrated copy-number alteration data from the 8 most commonly deleted genes, subordinately, with established chromosomal abnormalities to derive a 2-tier genetic classification. The classification was developed using 809 ALL97/99 patients and validated using 742 United Kingdom (UK)ALL2003 patients. Good-risk (GR) genetic features included ETV6-RUNX1, high hyperdiploidy, normal copy-number status for all 8 genes, isolated deletions affecting ETV6/PAX5/BTG1, and ETV6 deletions with a single additional deletion of BTG1/PAX5/CDKN2A/B. All other genetic features were classified as poor risk (PR). Three-quarters of UKALL2003 patients had a GR genetic profile and a significantly improved event-free survival (EFS) (94%) compared with patients with a PR genetic profile (79%). This difference was driven by a lower relapse rate (4% vs 17%), was seen across all patient subgroups, and was independent of other risk factors. Even genetic GR patients with minimal residual disease (>0.01%) at day 29 had an EFS in excess of 90%. In conclusion, the integration of genomic and cytogenetic data defines 2 subgroups with distinct responses to treatment and identifies a large subset of children suitable for treatment deintensification. PMID:24957142

  4. Molecular Cytogenetics in Trough Shells (Mactridae, Bivalvia): Divergent GC-Rich Heterochromatin Content

    PubMed Central

    García-Souto, Daniel; Pérez-García, Concepción; Kendall, Jack; Pasantes, Juan J.

    2016-01-01

    The family Mactridae is composed of a diverse group of marine organisms, commonly known as trough shells or surf clams, which illustrate a global distribution. Although this family includes some of the most fished and cultured bivalve species, their chromosomes are poorly studied. In this work, we analyzed the chromosomes of Spisula solida, Spisula subtruncata and Mactra stultorum by means of fluorochrome staining, C-banding and fluorescent in situ hybridization using 28S ribosomal DNA (rDNA), 5S rDNA, H3 histone gene and telomeric probes. All three trough shells presented 2n = 38 chromosomes but different karyotype compositions. As happens in most bivalves, GC-rich regions were limited to the nucleolus organizing regions in Spisula solida. In contrast, many GC-rich heterochromatic bands were detected in both Spisula subtruncata and Mactra stultorum. Although the three trough shells presented single 5S rDNA and H3 histone gene clusters, their chromosomal locations differed. Regarding major rDNA clusters, while Spisula subtruncata presented a single cluster, both Spisula solida and Mactra stultorum showed two. No evidence of intercalary telomeric signals was detected in these species. The molecular cytogenetic characterization of these taxa will contribute to understanding the role played by chromosome changes in the evolution of trough shells. PMID:27537915

  5. [Anopheles mosquitoes (Diptera, Culicidae) of the Tien Shan: morphological, cytogenetic, and molecular genetic analysis].

    PubMed

    Gordeev, M I; Zvantsov, A B; Goriacheva, I I; Shaĭkevich, E V; Ezhov, M N; Usenbaev, N T; Shapieva, Zh Zh; Zhakhongirov, Sh M

    2008-01-01

    Morphological, cytogenetic, and molecular genetic studies of the Anopheles fauna in the valley and foothills of the Tien Shan identified 5 species of malaria mosquitoes: An. artemievi Gordeev et al., An. messeae Fall, An. claviger Meigen, An. hyrcanus Pallas, An. pulcherrimus Theobald, and superpictus Grassi. An. claviger, An. hyrcanus, and An. messeae were prevalent in the Northern Tien-Shan. An. artemievi, An. claviger, An. hyrcanus, An. messeae, and An. superpictus were detected in the Western Tien Shan. An. artemievi was first recorded in Kazakhstan. An. artemievi, An. claviger, and An. superpictus were noted in the Inferior Tien Shan. An. messeae was first observed in the Issyk Kul hollow. An. artemievi, An. claviger, and An. superpictus were habitants of the foothills of the South-Western Tien Shan. An. artemievi, An. hyrcanus, An. superpictus, and An. pulcherrimus were in the plain. An. pulcherrimus and An. superpicts mosquitoes are regarded as important vectors in the new malaria foci of the Fergana regions. The role of An. artemievi in the transmission of malaria is to be specified. PMID:18822504

  6. Cytogenetic genotoxic investigation in peripheral blood lymphocytes of subjects with dental composite restorative filling materials.

    PubMed

    Pettini, F; Savino, M; Corsalini, M; Cantore, S; Ballini, A

    2015-01-01

    Dental composite resins are biomaterials commonly used to aesthetically restore the structure and function of teeth impaired by caries, erosion, or fracture. Residual monomers released from resin restorations as a result of incomplete polymerization processes interact with living oral tissues. The objective of this study was to evaluate the genotoxicity of a common dental composite material (Enamel Plus-HFO), in subjects with average 13 filled teeth with the same material, compared to a control group (subjects having neither amalgam nor composite resin fillings). Genotoxicity assessment of composite materials was carried out in vitro in human peripheral blood leukocytes using sister-chromatid exchange (SCE) and chromosomal aberrations (CA) cytogenetic tests. The results of correlation and multiple regression analyses confirmed the absence of a relationship between SCE/cell, high frequency of SCE(HFC) or CA frequencies and exposure to dental composite materials. These results indicate that composite resins used for dental restorations differ extensively in vivo in their cytotoxic and genotoxic potential and in their ability to affect chromosomal integrity, cell-cycle progression, DNA replication and repair. PMID:25864763

  7. Cytogenetic and hematological alterations induced by acute oral exposure of imidacloprid in female mice.

    PubMed

    Kataria, Sudhir Kumar; Chhillar, Anil Kumar; Kumar, Ajay; Tomar, Monika; Malik, Vinay

    2016-01-01

    Imidacloprid (IMD), 1(6-chloro-3-pyridinyl)methyl)-N-nitro-2-imidazolidinimine, was administered in female mice to study in vivo cytogenetic (chromosomal aberrations (CAs) and micronucleus assay) and hematological effects. The acute oral LD50 was determined to be 150 mg/kg bw in mice following OECD guidelines using AOT StatPgm425 software. The mice were administered orally with distilled water (negative control); mitomycin C (MMC), 1 mg/kg (positive control) and sub-lethal doses of 37.5 (low), 75.0 (medium) and 112.5 (high) mg/kg bw (25%, 50% and 75% of LD50) of IMD to analyze CAs and hematological effects after 24 h, whereas micronucleus test (MT) after 48 h. The genotoxicity analysis revealed that selected test doses of IMD--medium and high doses--induced significantly mitotic inhibition (p < 0.01), CAs (p < 0.01) and at high dose micronucleus (MN) formation (p < 0.05). Significant changes in red blood cell (RBC; p < 0.01), hemoglobin (Hb; p < 0.01) and erythrocyte sedimentation rate (ESR; p < 0.001) were observed, except WBC in which significant increase (p < 0.001) was observed. Present observation substantiates overall significant dose dependent genotoxic potential (p < 0.05; r = 0.98) of IMD. Precautions should be taken to minimize possible risk to exposed farmers of the state of Haryana (India)--an agrarian economy. PMID:25826183

  8. Cytogenetic abnormality in patients with multiple myeloma analyzed by fluorescent in situ hybridization

    PubMed Central

    Hu, Ying; Chen, Wenming; Chen, Shilun; Huang, Zhongxia

    2016-01-01

    Objective To analyze the fluorescent in situ hybridization (FISH) data and the association with clinical characteristics, therapy response, and survival time in patients with multiple myeloma. Method We performed a retrospective review of patients with multiple myeloma from November 2010 to April 2014. Results Cytogenetic abnormalities by FISH were detectable in 66% of patients. One cytogenetic abnormality, two cytogenetic abnormalities, and complex abnormalities were detectable in 21.2%, 51.5%, and 27.3% of cases, respectively. 1q21 amplification, t(4p16.3/14q32), and 17p deletion were observed in 69.7%, 30.3%, and 21.2% of cases, respectively. Total response rates (complete response [CR] + near CR + partial response) were 93.8% and 82.1%, respectively, in cytogenetic normality group and abnormality group. CR rates were 50% and 32.1%, respectively. Median overall survival (OS) time was 51 months and 24 months, respectively, in cytogenetic normality group and abnormality group (P<0.05). Median OS time was not significantly different between 1q21 amplification group and no 1q21 amplification group in patients with FISH abnormalities (P>0.05). Median OS time was not significantly different between t(4;14) group and no t(4;14) group in patients with FISH abnormalities (P>0.05). Seven patients of 17p deletion died in 2 years. Conclusion Multiple myeloma is characterized by a high occurrence of chromosomal aberrations. 1q21 amplification and t(4;14) are the most common abnormalities. Multiple cytogenetic abnormalities are frequently observed in the same one patient. The total response rate, CR rate, and OS time are worse in cytogenetic abnormal patients compared with cytogenetic normal patients. Patients with 17p deletion have a very poor prognosis. Future goals of therapy will be to achieve minimal residual disease, biomarkers, and genomic data, which might provide a better estimate of the depth of response to therapy and OS. PMID:27042105

  9. Cytogenetic analysis in a large series of children with non-syndromic mental retardation

    PubMed Central

    Bouhjar, Inesse Ben Abdallah; Gmidène, Abir; Mougou-Zrelli, Soumaya; Hannachi, Hanene; Soyah, Najla; Gadour, Naoufel; Harrabi, Imed; Elghezal, Hatem; Saad, Ali

    2012-01-01

    Mental retardation affects 1–3% of the population. To evaluate the implication of chromosomal abnormalities in the etiology of mental retardation, 1420 patients with non-syndromic mental retardation recruited at the department of cytogenetics of Farhat Hached hospital (Sousse, Tunisia) between January 2005 and December 2009, were analyzed using standard cytogenetic techniques. Age ranged between 3 and 18 years with a median of 8 years. Chromosomal abnormalities were detected in 7.8% of patients and an increased prevalence of chromosome anomalies was observed in patients when the mental retardation is associated with a severe degree of intellectual disability, facial dysmorphic features and/or congenital malformations or epilepsy.

  10. [Non-radioactive in situ hybridization of alpha-satellite sequences in cytogenetic diagnosis].

    PubMed

    Perfumo, C; Arslanian, A; Zara, F; Piombo, G; Pierluigi, M

    1992-01-01

    Non isotopic in situ hybridization with alpha-satellite DNA probes in the cytogenetic diagnosis. Standard banding cytogenetic techniques do not always allow to define the structure and the origin of chromosome rearrangements involving the centromere region. Non-isotopic in situ hybridization of alphoid sequences has allowed to determine the origin of the centromeres in the metaphases of 5 patients referred to us for: 2 structural rearrangements involving chromosome 21, 2 structural rearrangements involving chromosome Y and 1 reciprocal translocation involving on chromosome 20 and one chromosome 15. PMID:1465321

  11. Cytogenetic divergence in two sympatric fish species of the genus Astyanax Baird and Girard, 1854 (Characiformes, Characidae) from northeastern Brazil.

    PubMed

    Medrado, Aline Souza; Ribeiro, Mavione Souza; Affonso, Paulo Roberto Antunes de Mello; Carneiro, Paulo Luíz Souza; Costa, Marco Antônio

    2012-12-01

    The fish genus Astyanax is widespread throughout the Neotropical region and is one of the most species-rich genera of the Characiformes. Cytogenetic studies of Astyanax have revealed marked intra- and interspecific diversity, with the identification of various species complexes. In this report, we describe the karyotypic structure of two sympatric species of Astyanax (Astyanax sp. and Astyanax aff. fasciatus) from the Middle Contas River basin in the northeastern Brazilian state of Bahia. Both species had 2n = 48 but differed in their karyotypic formulae. Small heterochromatic blocks and multiple nucleolar organizer regions (NORs) were identified in both species. Terminal CMA(3) (+)/DAPI(-) signals were observed in Astyanax sp. and A. aff. fasciatus, mostly coincident with NORs. These results show that chromosomal markers can be used to identify species in this fish complex. These markers can provide useful information for evolutionary studies and investigations on the mechanisms of chromosomal diversity in Astyanax. PMID:23271941

  12. Cytogenetic divergence in two sympatric fish species of the genus Astyanax Baird and Girard, 1854 (Characiformes, Characidae) from northeastern Brazil

    PubMed Central

    Medrado, Aline Souza; Ribeiro, Mavione Souza; Affonso, Paulo Roberto Antunes de Mello; Carneiro, Paulo Luíz Souza; Costa, Marco Antônio

    2012-01-01

    The fish genus Astyanax is widespread throughout the Neotropical region and is one of the most species-rich genera of the Characiformes. Cytogenetic studies of Astyanax have revealed marked intra- and interspecific diversity, with the identification of various species complexes. In this report, we describe the karyotypic structure of two sympatric species of Astyanax (Astyanax sp. and Astyanax aff. fasciatus) from the Middle Contas River basin in the northeastern Brazilian state of Bahia. Both species had 2n = 48 but differed in their karyotypic formulae. Small heterochromatic blocks and multiple nucleolar organizer regions (NORs) were identified in both species. Terminal CMA3+/DAPI− signals were observed in Astyanax sp. and A. aff. fasciatus, mostly coincident with NORs. These results show that chromosomal markers can be used to identify species in this fish complex. These markers can provide useful information for evolutionary studies and investigations on the mechanisms of chromosomal diversity in Astyanax. PMID:23271941

  13. Cytogenetics of Melitoma segmentaria (Fabricius, 1804) (Hymenoptera, Apidae) reveals differences in the characteristics of heterochromatin in bees

    PubMed Central

    Cristiano, Maykon Passos; Simões, Talitta Guimarães; Lopes, Denilce Meneses; Pompolo, Silvia das Graças

    2014-01-01

    Abstract To date, more than 65 species of Brazilian bees (of the superfamily Apoidea) have been cytogenetically studied, but only a few solitary species have been analyzed. One example is the genus Melitoma Lepeletier & Serville, 1828, for which there is no report in the literature with regard to cytogenetic studies. The objective of the present study is to analyze the chromosome number and morphology of the species Melitoma segmentaria (Fabricius, 1804), as well as to determine the pattern of heterochromatin distribution and identify the adenine–thymine (AT)- and guanine–cytosine (GC)-rich regions. Melitoma segmentaria presents chromosome numbers of 2n=30 (females) and n=15 (males). With C-banding, it is possible to classify the chromosomes into seven pseudo-acrocentric pairs (AM), seven pseudo-acrocentric pairs with interstitial heterochromatin (AMi), and one totally heterochromatic metacentric pair (Mh). Fluorochrome staining has revealed that heterochromatin present in the chromosomal arms is rich in GC base pairs (CMA3+) and the centromeric region is rich in AT base pairs (DAPI+). The composition found for Melitoma diverges from the pattern observed in other bees, in which the heterochromatin is usually rich in AT. In bees, few heterochromatic regions are rich in GC and these are usually associated with or localized close to the nucleolus organizer regions (NORs). Silver nitrate impregnation marks the heterochromatin present in the chromosome arms, which makes identification of the NOR in the chromosomes impossible. As this technique reveals proteins in the NOR, the observation that is made in the present study suggests that the proteins found in the heterochromatin are qualitatively similar to those in the NOR. PMID:25349673

  14. Non-DBS DNA Repair Genes Regulate Radiation-induced Cytogenetic Damage Repair and Cell Cycle Progression

    NASA Technical Reports Server (NTRS)

    Zhang, Ye; Rohde, Larry H.; Emami, Kamal; Casey, Rachael; Wu, Honglu

    2008-01-01

    Changes of gene expression profile are one of the most important biological responses in living cells after ionizing radiation (IR) exposure. Although some studies have shown that genes up-regulated by IR may play important roles in DNA damage repair, the relationship between the regulation of gene expression by IR, particularly genes not known for their roles in DSB repair, and its impact on cytogenetic responses has not been systematically studied. In the present study, the expression of 25 genes selected on the basis of their transcriptional changes in response to IR was individually knocked down by transfection with small interfering RNA in human fibroblast cells. The purpose of this study is to identify new roles of these selected genes on regulating DSB repair and cell cycle progression , as measured in the micronuclei formation and chromosome aberration. In response to IR, the formation of MN was significantly increased by suppressed expression of 5 genes: Ku70 in the DSB repair pathway, XPA in the NER pathway, RPA1 in the MMR pathway, and RAD17 and RBBP8 in cell cycle control. Knocked-down expression of 4 genes (MRE11A, RAD51 in the DSB pathway, SESN1, and SUMO1) significantly inhibited cell cycle progression, possibly because of severe impairment of DNA damage repair. Furthermore, loss of XPA, P21, or MLH1 expression resulted in both significantly enhanced cell cycle progression and increased yields of chromosome aberrations, indicating that these gene products modulate both cell cycle control and DNA damage repair. Most of the 11 genes that affected cytogenetic responses are not known to have clear roles influencing DBS repair. Nine of these 11 genes were up-regulated in cells exposed to gamma radiation, suggesting that genes transcriptionally modulated by IR were critical to regulate the biological consequences after IR.

  15. Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.

    PubMed

    Lonardo, Fortunato; Perone, Lucia; Maioli, Marianna; Ciavarella, Maria; Ciccone, Roberto; Monica, Matteo Della; Lombardi, Cinzia; Forino, Luisa; Cantalupo, Giuseppina; Masella, Lucia; Scarano, Francesca

    2011-04-01

    Partial trisomy 16 is rare and most of the reported cases are secondary to chromosome rearrangements resulting in concurrent monosomies or trisomies of a second chromosome. Only a few patients survive the neonatal period and the duplication of the long arm seems to be mainly responsible for the prenatal lethality of the full trisomy 16. The reported patients with a partial 16q trisomy have a wide spectrum of congenital anomalies that include dysmorphic features, central nervous system malformations, failure to thrive, and club feet. The patients with duplications of proximal 16q frequently have short stature, developmental delay, speech delay, learning difficulties, and mild to severe behavioral problems. Here we describe a patient with an inverted de novo tandem duplication of 16q with breakpoints evaluated in detail by molecular-cytogenetic techniques. Main clinical features include postural, motor and speech delay with severe learning difficulties and behavioral problems, obesity, microcephaly, and mild dysmorphic features. In the report we attempt to classify the few reported patients with pure partial duplications of 16q in more narrow and homogeneous groups: proximal, proximal-intermediate, intermediate, and intermediate-distal duplications. Moreover, we emphasize the importance of proper cytogenetic investigation and complete molecular cytogenetic refinement in all cases with a suspected chromosomal anomaly. PMID:21416588

  16. The prognostic impact of germline 46/1 haplotype of Janus kinase 2 in cytogenetically normal acute myeloid leukemia

    PubMed Central

    Nahajevszky, Sarolta; Andrikovics, Hajnalka; Batai, Arpad; Adam, Emma; Bors, Andras; Csomor, Judit; Gopcsa, Laszlo; Koszarska, Magdalena; Kozma, Andras; Lovas, Nora; Lueff, Sandor; Matrai, Zoltan; Meggyesi, Nora; Sinko, Janos; Sipos, Andrea; Varkonyi, Andrea; Fekete, Sandor; Tordai, Attila; Masszi, Tamas

    2011-01-01

    Background Prognostic risk stratification according to acquired or inherited genetic alterations has received increasing attention in acute myeloid leukemia in recent years. A germline Janus kinase 2 haplotype designated as the 46/1 haplotype has been reported to be associated with an inherited predisposition to myeloproliferative neoplasms, and also to acute myeloid leukemia with normal karyotype. The aim of this study was to assess the prognostic impact of the 46/1 haplotype on disease characteristics and treatment outcome in acute myeloid leukemia. Design and Methods Janus kinase 2 rs12343867 single nucleotide polymorphism tagging the 46/1 haplotype was genotyped by LightCycler technology applying melting curve analysis with the hybridization probe detection format in 176 patients with acute myeloid leukemia under 60 years diagnosed consecutively and treated with curative intent. Results The morphological subtype of acute myeloid leukemia with maturation was less frequent among 46/1 carriers than among non-carriers (5.6% versus 17.2%, P=0.018, cytogenetically normal subgroup: 4.3% versus 20.6%, P=0.031), while the morphological distribution shifted towards the myelomonocytoid form in 46/1 haplotype carriers (28.1% versus 14.9%, P=0.044, cytogenetically normal subgroup: 34.0% versus 11.8%, P=0.035). In cytogenetically normal cases of acute myeloid leukemia, the 46/1 carriers had a considerably lower remission rate (78.7% versus 94.1%, P=0.064) and more deaths in remission or in aplasia caused by infections (46.8% versus 23.5%, P=0.038), resulting in the 46/1 carriers having shorter disease-free survival and overall survival compared to the 46/1 non-carriers. In multivariate analysis, the 46/1 haplotype was an independent adverse prognostic factor for disease-free survival (P=0.024) and overall survival (P=0.024) in patients with a normal karyotype. Janus kinase 2 46/1 haplotype had no impact on prognosis in the subgroup with abnormal karyotype. Conclusions Janus

  17. Cytogenetic damage and genetic variants in the individuals susceptible to arsenic-induced cancer through drinking water.

    PubMed

    Ghosh, Pritha; Basu, Anamika; Mahata, Julie; Basu, Sreemanti; Sengupta, Mainak; Das, Jayanta K; Mukherjee, Angshuman; Sarkar, Ajoy K; Mondal, Lakshmikanta; Ray, Kunal; Giri, Ashok K

    2006-05-15

    In West Bengal, India, more than 300,000 arsenic-exposed people are showing symptoms of arsenic toxicity, which include cancers of skin and different internal organs. Since only 15-20% of the exposed population manifest arsenic-induced skin lesions, it is thought that genetic variation might play an important role in arsenic toxicity and carcinogenicity. A total of 422 unrelated arsenic-exposed subjects (244 skin-symptomatic and 178 asymptomatic) were recruited for this study. Cytogenetic damage, as measured by chromosomal aberrations in lymphocytes and micronuclei formation in oral mucosa cells, urothelial cells and binucleated lymphocytes, was studied in unexposed, skin-symptomatic and asymptomatic individuals with similar socioeconomic status. Identification of null mutations in GSTT1 and GSTM1 genes were carried out by PCR amplification. GSTP1 SNPs, implicated in susceptibility to various cancers, were assessed by PCR-RFLP method. Symptomatic individuals had higher level of cytogenetic damage compared to asymptomatic individuals and asymptomatic individuals had significantly higher genotoxicity than unexposed individuals. No difference in allelic variants in GSTT1 and GSTP1 was observed between these 2 groups. Incidence of GSTM1 null gene frequencies was significantly higher in the asymptomatic group. Individuals with GSTM1-positive (at least one allele) had significantly higher risk of arsenic-induced skin lesions (odds ratio, 1.73; 95% confidence interval, 1.24-2.22). These results show a protective role of GSTM1 null in arsenic toxicity. This study also indicates that asymptomatic individuals are sub clinically affected and are also significantly susceptible to arsenic-induced genotoxicity. PMID:16353154

  18. De novo tandem duplication of chromosome segement 22q11-q12: Clinical, cytogenetic, and molecular characterization

    SciTech Connect

    Lindsay, E.A.; Shaffer, L.G.; Carrozzo, R.

    1995-04-10

    We report on a case of duplication of the segment 22q11-q12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D22Z4, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker proximal to the Ewing sarcoma breakpoint. The segment includes the regions responsible for the {open_quotes}cat-eye{close_quotes}, Di George, and velo-cardio-facial syndromes and extends distal to the breakpoint cluster region (BCR). The clinical picture is dominated by the cardiac defects and includes findings reminiscent of {open_quotes}cat-eye{close_quotes} syndrome. These findings reinforce the hypothesis that the proximal 22q region contains dosage-sensitive genes involved in development. 20 refs., 3 figs.

  19. Isochromosome 1q as an early genetic event in a child with intracranial ependymoma characterized by molecular cytogenetics.

    PubMed

    Granzow, M; Popp, S; Weber, S; Schoell, B; Holtgreve-Grez, H; Senf, L; Hager, D; Boschert, J; Scheurlen, W; Jauch, A

    2001-10-01

    Data concerning cytogenetic features of childhood ependymoma are rare. In this article, a gain of 1q was identified as the sole alteration in a primary childhood infratentorial ependymoma by comparative genomic hybridization (CGH). A recurrence of this brain tumor was studied using multiplex-fluorescence in situ hybridization (M-FISH) in addition to CGH and G-banding analysis. In accordance with the primary tumor, a gain of 1q corresponding to an isochromosome 1q was observed indicating an early event in the tumor development. Furthermore, M-FISH classified several other rearranged chromosomes including 6q and 17p that have previously been found to be involved in the development and progression of childhood ependymoma. PMID:11672779

  20. Burden of cytogenetically abnormal plasma cells in light chain amyloidosis and their prognostic relevance.

    PubMed

    Kim, Seon Young; Im, Kyongok; Park, Si Nae; Kim, Jung-Ah; Yoon, Sung-Soo; Lee, Dong Soon

    2016-05-01

    We performed cytoplasmic fluorescence in situ hybridization assays of light chain amyloidosis (AL). In total, 234 patients were enrolled: 28 patients with AL, 24 with monoclonal gammopathy of undetermined significance (MGUS), and 182 with multiple myeloma (MM). Chromosomal abnormalities were detected in 13 of 22 (59%) AL patients without MM. All 13 patients demonstrated IGH rearrangement, and t(11;14)/IGH-CCND1 was most frequent (32%). Chromosome gain was not observed in AL patients without MM. These findings were dissimilar to findings in MGUS patients, in whom trisomy 9 was the most frequent abnormality. Of 6 AL patients with MM, 5 (83%) patients had cytogenetic abnormalities: 1q gain (4/6, 67%), gains of chromosome 9 (3/6, 50%), IGH rearrangement and RB1 (13q) deletions (2/6 each, 33%). The percentage of clonal plasma cells among total plasma cells was variable (median, 75%; range, 16-100%) for AL patients without MM, which was lower than the results for MM patients (median 100%). The overall survival of AL patients without MM was not significantly different according to the presence of cytogenetic abnormalities (P=0.510). In summary, among Korean AL patients, IGH rearrangement was the most frequent cytogenetic abnormality and cytogenetic aberration patterns differ compared with MGUS and MM patients. PMID:27015231

  1. Xp11.2 Translocation Renal Cell Carcinoma Diagnosed by Immunohistochemistry and Cytogenetics

    PubMed Central

    Dey, Biswajit; Badhe, Bhawana; Govindarajan, Krishna Kumar; Ramesh, Ranjith Arumbakkam

    2016-01-01

    Xp11.2 translocation renal cell carcinomas (TRCCs) are a group of neoplasms with distinct clinical, histopathological appearance, immunohistochemical, and cytogenetic profile. We report a case of Xp11.2 translocation TRCC in an 11-year-old male diagnosed based on immunohistochemistry and fluorescence in situ hybridization. PMID:27365924

  2. Cytogenetic Survey for Autistic Fragile X Carriers in a Mental Retardation Center.

    ERIC Educational Resources Information Center

    Cantu, Eduardo S.; And Others

    1990-01-01

    The cytogenetic survey of 67 individuals previously identified as having mental retardation and autistic behaviors revealed only 1.5 percent with the fragile X chromosome. The finding suggests that most persons with fragile X syndrome do not have autistic behaviors severe enough to be identified as a secondary psychiatric diagnosis. (Author/DB)

  3. Minimal residual disease evaluation by flow cytometry is a complementary tool to cytogenetics for treatment decisions in acute myeloid leukaemia.

    PubMed

    Vidriales, María-Belén; Pérez-López, Estefanía; Pegenaute, Carlota; Castellanos, Marta; Pérez, José-Juan; Chandía, Mauricio; Díaz-Mediavilla, Joaquín; Rayón, Consuelo; de Las Heras, Natalia; Fernández-Abellán, Pascual; Cabezudo, Miguel; de Coca, Alfonso García; Alonso, Jose M; Olivier, Carmen; Hernández-Rivas, Jesús M; Montesinos, Pau; Fernández, Rosa; García-Suárez, Julio; García, Magdalena; Sayas, María-José; Paiva, Bruno; González, Marcos; Orfao, Alberto; San Miguel, Jesús F

    2016-01-01

    The clinical utility of minimal residual disease (MRD) analysis in acute myeloid leukaemia (AML) is not yet defined. We analysed the prognostic impact of MRD level at complete remision after induction therapy using multiparameter flow cytometry in 306 non-APL AML patients. First, we validated the prognostic value of MRD-thresholds we have previously proposed (≥ 0.1%; ≥ 0.01-0.1%; and <0.01), with a 5-year RFS of 38%, 50% and 71%, respectively (p=0.002). Cytogenetics is the most relevant prognosis factor in AML, however intermediate risk cytogenetics represent a grey zone that require other biomarkers for risk stratification, and we show that MRD evaluation discriminate three prognostic subgroups (p=0.03). Also, MRD assessments yielded relevant information on favourable and adverse cytogenetics, since patients with favourable cytogenetics and high MRD levels have poor prognosis and patients with adverse cytogenetics but undetectable MRD overcomes the adverse prognosis. Interestingly, in patients with intermediate or high MRD levels, intensification with transplant improved the outcome as compared with chemotherapy, while the type of intensification therapy did not influenced the outcome of patients with low MRD levels. Multivariate analysis revealed age, MRD and cytogenetics as independent variables. Moreover, a scoring system, easy in clinical practice, was generated based on MRD level and cytogenetics. PMID:26598032

  4. Association Between the Cytogenetic Profile of Tumor Cells and Response to Preoperative Radiochemotherapy in Locally Advanced Rectal Cancer

    PubMed Central

    González-González, María; Garcia, Jacinto; Alcazar, José A.; Gutiérrez, María L.; Gónzalez, Luis M.; Bengoechea, Oscar; Abad, María M.; Santos-Briz, Angel; Blanco, Oscar; Martín, Manuela; Rodríguez, Ana; Fuentes, Manuel; Muñoz-Bellvis, Luis; Orfao, Alberto; Sayagues, Jose M.

    2014-01-01

    Abstract Neoadjuvant radiochemotherapy to locally advanced rectal carcinoma patients has proven efficient in a high percentage of cases. Despite this, some patients show nonresponse or even disease progression. Recent studies suggest that different genetic alterations may be associated with sensitivity versus resistance of rectal cancer tumor cells to neoadjuvant therapy. We investigated the relationship between intratumoral pathways of clonal evolution as assessed by interphase fluorescence in situ hybridization (51 different probes) and response to neoadjuvant radiochemotherapy, evaluated by Dworak criteria in 45 rectal cancer tumors before (n = 45) and after (n = 31) treatment. Losses of chromosomes 1p (44%), 8p (53%), 17p (47%), and 18q (38%) and gains of 1q (49%) and 13q (75%) as well as amplification of 8q (38%) and 20q (47%) chromosomal regions were those specific alterations found at higher frequencies. Significant association (P < 0.05) was found between alteration of 1p, 1q, 11p, 12p, and 17p chromosomal regions and degree of response to neoadjuvant therapy. A clear association was observed between cytogenetic profile of the ancestral tumor cell clone and response to radiochemotherapy; cases presenting with del(17p) showed a poor response to neoadjuvant treatment (P = 0.03), whereas presence of del(1p) was more frequently observed in responder patients (P = 0.0002). Moreover, a significantly higher number of copies of chromosomes 8q (P = 0.004), 13q (P = 0.003), and 20q (P = 0.002) were found after therapy versus paired pretreatment rectal cancer samples. Our results point out the existence of an association between tumor cytogenetics and response to neoadjuvant therapy in locally advanced rectal cancer. Further studies in larger series of patients are necessary to confirm our results. PMID:25474426

  5. Association between the cytogenetic profile of tumor cells and response to preoperative radiochemotherapy in locally advanced rectal cancer.

    PubMed

    González-González, María; Garcia, Jacinto; Alcazar, José A; Gutiérrez, María L; Gónzalez, Luis M; Bengoechea, Oscar; Abad, María M; Santos-Briz, Angel; Blanco, Oscar; Martín, Manuela; Rodríguez, Ana; Fuentes, Manuel; Muñoz-Bellvis, Luis; Orfao, Alberto; Sayagues, Jose M

    2014-11-01

    Neoadjuvant radiochemotherapy to locally advanced rectal carcinoma patients has proven efficient in a high percentage of cases. Despite this, some patients show nonresponse or even disease progression. Recent studies suggest that different genetic alterations may be associated with sensitivity versus resistance of rectal cancer tumor cells to neoadjuvant therapy. We investigated the relationship between intratumoral pathways of clonal evolution as assessed by interphase fluorescence in situ hybridization (51 different probes) and response to neoadjuvant radiochemotherapy, evaluated by Dworak criteria in 45 rectal cancer tumors before (n = 45) and after (n = 31) treatment. Losses of chromosomes 1p (44%), 8p (53%), 17p (47%), and 18q (38%) and gains of 1q (49%) and 13q (75%) as well as amplification of 8q (38%) and 20q (47%) chromosomal regions were those specific alterations found at higher frequencies. Significant association (P < 0.05) was found between alteration of 1p, 1q, 11p, 12p, and 17p chromosomal regions and degree of response to neoadjuvant therapy. A clear association was observed between cytogenetic profile of the ancestral tumor cell clone and response to radiochemotherapy; cases presenting with del(17p) showed a poor response to neoadjuvant treatment (P = 0.03), whereas presence of del(1p) was more frequently observed in responder patients (P = 0.0002). Moreover, a significantly higher number of copies of chromosomes 8q (P = 0.004), 13q (P = 0.003), and 20q (P = 0.002) were found after therapy versus paired pretreatment rectal cancer samples. Our results point out the existence of an association between tumor cytogenetics and response to neoadjuvant therapy in locally advanced rectal cancer. Further studies in larger series of patients are necessary to confirm our results. PMID:25474426

  6. The Bactrocera dorsalis species complex: comparative cytogenetic analysis in support of Sterile Insect Technique applications

    PubMed Central

    2014-01-01

    Background The Bactrocera dorsalis species complex currently harbors approximately 90 different members. The species complex has undergone many revisions in the past decades, and there is still an ongoing debate about the species limits. The availability of a variety of tools and approaches, such as molecular-genomic and cytogenetic analyses, are expected to shed light on the rather complicated issues of species complexes and incipient speciation. The clarification of genetic relationships among the different members of this complex is a prerequisite for the rational application of sterile insect technique (SIT) approaches for population control. Results Colonies established in the Insect Pest Control Laboratory (IPCL) (Seibersdorf, Vienna), representing five of the main economic important members of the Bactrocera dorsalis complex were cytologically characterized. The taxa under study were B. dorsalis s.s., B. philippinensis, B. papayae, B. invadens and B. carambolae. Mitotic and polytene chromosome analyses did not reveal any chromosomal characteristics that could be used to distinguish between the investigated members of the B. dorsalis complex. Therefore, their polytene chromosomes can be regarded as homosequential with the reference maps of B. dorsalis s.s.. In situ hybridization of six genes further supported the proposed homosequentiallity of the chromosomes of these specific members of the complex. Conclusions The present analysis supports that the polytene chromosomes of the five taxa under study are homosequential. Therefore, the use of the available polytene chromosome maps for B. dorsalis s.s. as reference maps for all these five biological entities is proposed. Present data provide important insight in the genetic relationships among the different members of the B. dorsalis complex, and, along with other studies in the field, can facilitate SIT applications targeting this complex. Moreover, the availability of 'universal' reference polytene chromosome

  7. Dioxins and cytogenetic status of villagers after 40 years of agent Orange application in Vietnam.

    PubMed

    Sycheva, Lyudmila P; Umnova, Nataliya V; Kovalenko, Maria A; Zhurkov, Vjacheslav S; Shelepchikov, Andrey A; Roumak, Vladimir S

    2016-02-01

    We have examined cytogenetic status of the rural population living on dioxin-contaminated territories (DCT, TCDD in soil 2.6 ng/kg) compared to the villagers of the control area (TCDD in soil 0.18 ng kg(-1)). The examination took place almost 40 years after the war. The consequences of some confounding factors (years of residence in the region, farming, and aging) has been examined. Karyological analysis of buccal and nasal epitheliocytes among healthy adult males living on DCT and control area (26 and 35 persons) was conducted. A wide range of cytogenetic (micronuclei, nuclear protrusions), proliferative (binucleated cells and cells with doubled nucleus) and endpoints of cell death (cells with perinuclear vacuoles, with damaged nucleus membrane, condensed chromatin, pyknosis, karyorrhexis, karyolysis) had been analyzed. The frequent amount of cells with nuclear protrusions in both epithelia was slightly decreased in the DСT group. Biomarkers of early and late stages of nuclear destruction in buccal epithelium (cells with damaged nuclear membrane, karyolysis) were elevated significantly in DCT. Higher level of the same parameters was also identified in nasal epithelium. The cytogenetic status of healthy adult males on DCT had got "normalization" by present moment in comparison with our early data. Nevertheless, in exposed group some alteration of the cytogenetic status was being registered (mostly biomarkers of apoptosis). Years of residence (and exposure to dioxins) affected the cytogenetic status of DCT inhabitants, whereas no influence of farming factors (pesticides, fertilizers, etc.) had been discovered. Some biomarkers of proliferation and cell death were affected by aging. PMID:26495825

  8. Molecular/cytogenetic alterations accompanying the development of multidrug resistance in the J774.2 murine cell line.

    PubMed

    Slovak, M L; Lothstein, L; Horwitz, S B; Trent, J M

    1988-07-01

    Mouse macrophage-like J774.2 cells were selected for resistance to colchicine and examined by molecular/cytogenetic analysis to determine whether the acquisition of the multidrug resistant (mdr) phenotype was associated with specific chromosomal rearrangements. Cytogenetic studies of the J774.2 parental and two colchicine-resistant (CLCR) sublines--J7.Cl-30 (770-fold CLCR) and J7.Cl-100 (2500-fold CLCR)--demonstrated specific numeric and structural karyotypic alterations accompanying the emergence of mdr. The parental cells demonstrated a modal chromosome number of 63, while the modal number of the J7.Cl-30 subline was 53. The most striking difference between the parental and J7.Cl-30 subline was the presence of an average of 60 double minutes (DMs) per cell in the CLCR cells. The 2500-fold resistant J7.Cl-100 subline displayed a modal number of 50, which included structural rearrangements involving chromosomes 2 and 7 and concomitant replacement of DMs by a homogeneously staining region (HSR). Southern blotting analysis demonstrated a approximately 35-fold amplification of P-glycoprotein homologous sequences in the J7.Cl-30 subline and approximately 70-fold amplification in the J7.Cl-100 subline. Chromosomal in situ hybridization localized the amplified P-glycoprotein sequences to DMs (J7.Cl-30) and the HSR (J7.Cl-100) in these CLCR sublines. Our results suggest that CLCR in J774.2 cells results from overexpression of P-glycoprotein via gene amplification which was accompanied by chromosomal evolution from DMs to an HSR. PMID:2899184

  9. Cytogenetic effects of commercial formulation of cypermethrin in root meristem cells of Allium sativum: spectroscopic basis of chromosome damage.

    PubMed

    Saxena, P N; Chauhan, L K S; Gupta, S K

    2005-12-15

    To validate the use of Allium sativum as a sensitive test model for genotoxicity, the cytogenetic effects of a commercial formulation of the pyrethroid insecticide, cypermethrin, were evaluated in the root meristem cells of A. sativum. Ultraviolet (UV) and Fourier transform infrared (FTIR) spectral measurements were also carried out to understand the interaction of cypermethrin with DNA. In a preliminary toxicity assay, the EC50 for Allium root growth was estimated to be 8 ppm. For the cytogenetic assay, root meristem cells were exposed to 1, 2, 4, 8 and 16 ppm of the test compound for 24 h, and either processed immediately for analysis or incubated in water for 24 h of recovery and then processed. Cells analyzed immediately after the exposure had a significant, dose-dependent inhibition of mitotic index (MI) and induction of mitotic and chromosomal aberrations (MAs and CAs). The 24 h recovery period reduced the effect of the test compound on the MI and percent aberrations; however, cells exposed to 8 and 16 ppm showed a significant frequency of aberrations despite the recovery period. One part per million cypermethrin was consistently negative in the assay. The data indicate that higher doses of cypermethrin produce toxicity, CAs and MAs in A. sativum. The present study indicates that A. sativum is a sensitive and reliable test system. A bathochromic shift observed in UV absorption spectra reveals that cypermethrin binds with DNA. Role of vibrational modes of the active site in the recognition and reaction of cypermethrin with DNA has been discussed. Based on spectroscopic data and structural properties, a possible mechanism has been proposed for the interaction of cypermethrin with DNA resulting in chromosomal aberrations. PMID:16168554

  10. Cytogenetically uninformative or Ph{sup 1} negative patients with CML should be evaluated by FISH with bcr/abl probes

    SciTech Connect

    Brothman, L.J.; Grover, A.; Issa, M.

    1994-09-01

    Identification of the Ph{sup 1} translocation in chronic myelogenous leukemia (CML) is both diagnostically and prognostically important. Our laboratory has established a policy for the use of fluorescence in situ hybridization (FISH) with the Mbcr/abl probe (Oncor) to ensure that the most complete information available is obtained. Bone marrow or unstimulated peripheral blood is cultured, harvested and analyzed according to routine laboratory protocol. If the patient is Ph{sup 1} positive, the case is completed and results given with no further study. If the patient is Ph{sup 1} negative or there are no discernible metaphase cells, the physician is contacted for authorization of FISH with the Mbcr/abl probe. Clinicians are told that FISH is an investigational procedure, if the patient fits a CML profile, this test is offered. In a group of 28 CML patients for which FISH was done, 9 (32%) cases were directly affected by FISH results. Four cases contained no metaphase cells, and interphase FISH showed two of them to be Ph{sup 1} positive and two to be Ph{sup 1} negative. Three other cases were cytogenetically Ph{sup 1} negative and were Ph{sup 1} positive by FISH. Another case with one metaphase cell which was cytogenetically Ph{sup 1} negative was also negative by FISH, and a case done post-bone marrow transplant was Ph{sup 1} negative by both methods. These data show that completing a FISH study with the Mbcr/abl probe in cytogenetically Ph{sup 1} negative CML patients can significantly affect interpretation. The results of this series indicate that FISH is an important component of a complete work-up for the patient with CML.

  11. Chromosome painting and the accumulation of stable cytogenetic damage with age in healthy controls

    SciTech Connect

    Tucker, J.D.; Ramsey, M.J.; Lee, D.A.

    1995-11-01

    Chromosome painting is now routinely used to identify induced stable chromosomal rearrangements, which are difficult and expensive to analyze with classical cytogenetic methods. Theoretically the inherent stability of translocations, in contrast to unstable dicentrics, enables their use as a biodosimeter for chronic and temporally-displaced exposure. To quantify the effects of adverse exposure, it is important that the baseline frequency of stable aberrations be well understood. Recently we have used chromosome painting to show that translocations accumulate with age. We have now extended this study to nearly 100 subjects ranging in age from newborns (umbilical cord bloods, n=14) to adults aged 19-79 years. All subjects were healthy, had not received chemo- or radiotherapy, and had not been occupationally or accidentally exposed to radiation or chemicals. We scored the equivalent of 1000 metaphase cells for each subject, and observed an overall average of 1.36 stable aberrations per 100 cells. Stable aberrations increased significantly with age, and were observed at frequencies of 0.19{plus_minus}0.04, 0.77{plus_minus}0.07, and 2.39{plus_minus}0.24 per 100 cells in cord blood, adults aged 19 to 49, and adults over age 50, respectively. To understand the extent that lifestyle factors influence the frequency of stable aberrations, each subject (or one parent of each newborn) completed a comprehensive questionnaire inquiring about lifestyle factors such as smoking, alcohol consumption, and dietary habits. No smoking effect is apparent in adults, however newborns whose mothers smoked during pregnancy had a 2.6-fold increase in stable aberration frequencies (p=0.033). Repeat samples from a subset of the adults suggest that individual translocation frequencies change little over a period of -3 years.

  12. Identification of MLL partner genes in 27 patients with acute leukemia from a single cytogenetic laboratory.

    PubMed

    De Braekeleer, Etienne; Meyer, Claus; Douet-Guilbert, Nathalie; Basinko, Audrey; Le Bris, Marie-Josée; Morel, Frédéric; Berthou, Christian; Marschalek, Rolf; Férec, Claude; De Braekeleer, Marc

    2011-12-01

    Chromosomal rearrangements involving the MLL gene have been associated with many different types of hematological malignancies. Fluorescent in situ hybridization with a panel of probes coupled with long distance inverse-PCR was used to identify chromosomal rearrangements involving the MLL gene. Between 1995 and 2010, 27 patients with an acute leukemia were found to have a fusion gene involving MLL. All seven ALL patients with B cell acute lymphoblastic leukemia were characterized by the MLL/AFF1 fusion gene resulting from a translocation (5 patients) or an insertion (2 patients). In the 19 AML patients with acute myeloblastic leukemia, 31.6% of all characterized MLL fusion genes were MLL/MLLT3, 21.1% MLL/ELL, 10.5% MLL/MLLT6 and 10.5% MLL/EPS15. Two patients had rare or undescribed fusion genes, MLL/KIAA0284 and MLL/FLNA. Seven patients (26%) had a complex chromosomal rearrangement (three-way translocations, insertions, deletions) involving the MLL gene. Splicing fusion genes were found in three patients, leading to a MLL/EPS15 fusion in two and a MLL/ELL fusion in a third patient. This study showed that fusion involving the MLL gene can be generated through various chromosomal rearrangements such as translocations, insertions and deletions, some being complex or cryptic. A systematic approach should be used in all cases of acute leukemia starting with FISH analyses using a commercially available MLL split signal probe. Then, the analysis has to be completed, if necessary, by further molecular cytogenetic and genomic PCR methods. PMID:21900057

  13. Cytogenetic components of reproductive isolation in Trimerotropis thalassica and T. occidentalis.

    PubMed

    John, B; Weissman, D B

    1977-03-16

    The grasshopper Trimerotropis thalassica (Bruner) has a diploid count of 2n=23 male (XO), 24 female (XX). The two largest autosomes pairs are regularly metacentric, a consequence of fixed pericentric inversions. The X-chromosome is also a fixed metacentric. The remaining nine pairs of autosmes are polymorphic for floating percentric inversions so that the complement consists of a mixture of telocentric and metacentric members. Trimerotropis occidentalis (Bruner) is polymorphic for comparable inversions in only two of its autosome pairs and has a telocentric X. It is however, unique among the species of the genus Trimerotropis in having only 21 chromosomes in its male diploid set in all the populations so far studied. A single male found in a mixed population of these two species at Jasper Ridge, Stanford University, was characterized by the count 2n=22 male. In both this respect of and in its phenotype it was intermediate in character, representing a natural F1 hybrid between the two species. Cytogenetic analysis of this hybrid male indicated that occidentalis is differentiated from thalassica only is respect of a single tandem translocation. This has involved two of the telocentric elements of thalassica which have fused into a single composite telocentric partly homologous with each of the smaller progenitors. Although potentially capable of forming a multiple of three, one or other of the progenitor chromosomes regularly fails to pair with the tandem product in the hybrid so that one or more univalents invariably occur. These, by lagging, prevent cytokinesis and subsequently lead to the formation of macrospermatids which inevitably produce a measure of sterility. It is argued that this sterility provides a basis of reproductive isolation. PMID:870293

  14. Cytogenetic evidence of mixed disomic and polysomic inheritance in an allotetraploid (AABB) Musa genotype

    PubMed Central

    Jeridi, Mouna; Perrier, Xavier; Rodier-Goud, Marguerite; Ferchichi, Ali; D'Hont, Angélique; Bakry, Frédéric

    2012-01-01

    Background and Aims Edible bananas originated mainly from two wild species, Musa acuminata Colla (AA) and Musa balbisiana Colla (BB), and triploid cultivars with an AAA, AAB or ABB genome are the most widely used. In the present study, chromosome pairing affinities are investigated in a sterile AB Indian variety and in its fertile colchicine-induced allotetraploid (AABB) derivative to determine the inheritance pattern of the tetraploid genotype. The potential implications of interspecific recombination and chromosomal composition of diploid gametes for Musa improvement are presented. Methods The pairing of different chromosome sets at diploid and tetraploid levels was investigated through a combination of conventional cytogenetic and genomic in-situ hybridization (GISH) analyses of meiotic chromosomes, leading to a likelihood model of the pairing behaviour. GISH analysis of mitotic chromosomes was also conducted to reveal the chromosome constitution of hybrids derived from crosses involving the allotetraploid genotype. Key Results Analysis of chromosome associations at both ploidy levels suggested that the newly formed allotetraploid behaves as a ‘segmental allotetraploid’ with three chromosome sets in a tetrasomic pattern, three sets in a likely disomic pattern and the five remaining sets in an intermediate pattern. Balanced and unbalanced diploid gametes were detected in progenies, with the chromosome constitution appearing to be more homogenous in pollen than in ovules. Conclusions Colchicine-induced allotetraploids in Musa provide access to the genetic background of natural AB varieties. The segmental inheritance pattern exhibited by the AABB allotetraploid genotype implies chromosome exchanges between M. acuminata and M. balbisiana species and opens new horizons for reciprocal transfer of valuable alleles. PMID:23087127

  15. Assessment of genotoxic potential of the insecticide Dichlorvos using cytogenetic assay

    PubMed Central

    Nazam, Nazia; Lone, Mohammad Iqbal; Shaikh, Sibhghatulla

    2013-01-01

    The possible genotoxic activity of Dichlorvos (2,2-Dichlorovinyl-O,O-dimethyl phosphate/DDVP, CAS No. 62-73-7), an organophosphorus insecticide was investigated employing three cytogenetic end points, i.e. micronucleus (MN) assay, mitotic indices (MI) and chromosome abberation (CA) analysis in vivo. The assays were carried out in hematopoietic bone marrow cells of Mus musculus at concentrations of 10, 20 and 30% of LD50 for intraperitoneal (ip) administration, corresponding to 0.06, 0.08 and 0.13 mg/kg Bwt, respectively. The normal control group received single ip dose of distilled water (2 ml/100 g Bwt), while animals of the positive group were injected with cyclophosphamide, a model mutagen (40 mg/kg Bwt) under identical conditions. The animals were sacrificed 24, 48 and 72 hrs post treatment. Under the present experimental conditions, there was no evidence of significant increase of MN frequencies at any dose or sampling time in polychromatic (PCE) and normochromatic (NCE) erythrocytes. The PCE/NCE ratio was not notably affected; however, a slight depression in prolonged exposure (48, 72 hr) intervals and a slight increase at the 24 hr interval were observed. Cells with various structural chromosome aberrations were noted but no significant (p<0.05; Man-Whitney U-test) differences in the frequencies of CA or mitotic indices (p<0.05; χ2 test) were observed between Dichlorvos treated groups and the normal control group at doses or time intervals used. The results of the present investigation reflects a negative in vivo genotoxic potential of Dichlorvos at sublethal doses in bone marrow cells. Further studies are underway to confirm the presence or absence of genotoxic activity since compounds negative in genotoxic evaluation are susceptible of being carcinogens triggering cancer by genotoxic or non–genotoxic mechanisms. PMID:24179433

  16. Micronuclei in sputum from uranium workers: Epidemiologic application of an evolving cytogenetic technique

    SciTech Connect

    Loomis, D.P.

    1989-01-01

    The exfoliated-cell micronucleus assay is a relatively new cytogenetic technique which can provide a measure of the genetic effect of exposure to carcinogens and mutagens in target tissues where tumors arise among exposed populations. It is responsive to the effects of ionizing radiation and tobacco smoke in some in vivo human cell systems, but has not been extensively field tested as an indicator of lung cancer-related effects, despite the public health importance of exposure to occupational and environmental lung carcinogens. In this study the exfoliated-cell micronucleus assay was used to assess effects of exposure to radon progeny and cigarette smoke in a population of uranium industry workers (including employees in underground and open-pit mines, mills, laboratories, and administrative offices); underground uranium miners experience markedly elevated lung cancer risk because of exposure to ionizing radiation from radon progeny. Ninety-nine workers were selected at random from among workers in Colorado Plateau uranium-related facilities who participated in a workplace sputum cytology screening program from 1964-1988. The prevalence of cells with micronuclei was determined by a manual assay of one sputum specimen for each worker under a light microscope. Occupational and smoking data obtained by interview during screening were used to classify exposure and smoking status at the time the sputum specimen was taken and to obtain information on potential confounders and effect modifiers; underground miners were classified as exposed to radon progeny, and others were considered unexposed. Neither radon progeny exposure nor cigarette smoking had any appreciable effect on the prevalence of micronucleated cells. Crude prevalence ratios were 1.0 (95% CI 0.7-1.4) and 0.9 (95% CI 0.6-1.3), respectively, for radon exposure and smoking.

  17. Comparative cytogenetic characterization of primary canine melanocytic lesions using array CGH and fluorescence in situ hybridization.

    PubMed

    Poorman, Kelsey; Borst, Luke; Moroff, Scott; Roy, Siddharth; Labelle, Philippe; Motsinger-Reif, Alison; Breen, Matthew

    2015-06-01

    Melanocytic lesions originating from the oral mucosa or cutaneous epithelium are common in the general dog population, with up to 100,000 diagnoses each year in the USA. Oral melanoma is the most frequent canine neoplasm of the oral cavity, exhibiting a highly aggressive course. Cutaneous melanocytomas occur frequently, but rarely develop into a malignant form. Despite the differential prognosis, it has been assumed that subtypes of melanocytic lesions represent the same disease. To address the relative paucity of information about their genomic status, molecular cytogenetic analysis was performed on the three recognized subtypes of canine melanocytic lesions. Using array comparative genomic hybridization (aCGH) analysis, highly aberrant distinct copy number status across the tumor genome for both of the malignant melanoma subtypes was revealed. The most frequent aberrations included gain of dog chromosome (CFA) 13 and 17 and loss of CFA 22. Melanocytomas possessed fewer genome wide aberrations, yet showed a recurrent gain of CFA 20q15.3-17. A distinctive copy number profile, evident only in oral melanomas, displayed a sigmoidal pattern of copy number loss followed immediately by a gain, around CFA 30q14. Moreover, when assessed by fluorescence in situ hybridization (FISH), copy number aberrations of targeted genes, such as gain of c-MYC (80 % of cases) and loss of CDKN2A (68 % of cases), were observed. This study suggests that in concordance with what is known for human melanomas, canine melanomas of the oral mucosa and cutaneous epithelium are discrete and initiated by different molecular pathways. PMID:25511566

  18. BAC-End Microsatellites from Intra and Inter-Genic Regions of the Common Bean Genome and Their Correlation with Cytogenetic Features

    PubMed Central

    Blair, Matthew Wohlgemuth; Córdoba, Juana Marcela; Muñóz, Claritza; Yuyó, Deissy K.

    2014-01-01

    Highly polymorphic markers such as simple sequence repeats (SSRs) or microsatellites are very useful for genetic mapping. In this study novel SSRs were identified in BAC-end sequences (BES) from non-contigged, non-overlapping bacterial artificial clones (BACs) in common bean (Phaseolus vulgaris L.). These so called “singleton” BACs were from the G19833 Andean gene pool physical map and the new BES-SSR markers were used for the saturation of the inter-gene pool, DOR364×G19833 genetic map. A total of 899 SSR loci were found among the singleton BES, but only 346 loci corresponded to the single di- or tri-nucleotide motifs that were likely to be polymorphic (ATT or AG motifs, principally) and useful for primer design and individual marker mapping. When these novel SSR markers were evaluated in the DOR364×G19833 population parents, 136 markers revealed polymorphism and 106 were mapped. Genetic mapping resulted in a map length of 2291 cM with an average distance between markers of 5.2 cM. The new genetic map was compared to the most recent cytogenetic analysis of common bean chromosomes. We found that the new singleton BES-SSR were helpful in filling peri-centromeric spaces on the cytogenetic map. Short genetic distances between some new singleton-derived BES-SSR markers was common showing suppressed recombination in these regions compared to other parts of the genome. The correlation of singleton-derived SSR marker distribution with other cytogenetic features of the bean genome is discussed. PMID:25254501

  19. An informative constitutional cytogenetic marker found in a patient post bone marrow transplantation

    SciTech Connect

    Zaslav, A.L.; Graziano, J.; Ebert, R.

    1994-09-01

    It is cytogenetically difficult to distinguish between host and donor cells in allogeneic bone marrow transplantation (BMT) individuals of the same sex. Here we describe a patient with a cytogenetic marker found after BMT. A 7-month-old male presented with leukemia which was CD7+, CD33+, HLADR+, and CD4-, CD8-, indicating a diagnosis of acute stem cell leukemia (ASCL). Cytogenetic analysis revealed an abnormal clone in all of the cells analyzed: 46,XY,t(2;8)(p11.2;q24),inv(9)(p13p24). This translocation is associated with B-cell acute lymphoblastic leukemia (ALL); thus, it was possible for this patient to develop B-cell ALL. The abnormal clone persisted along with normal 46,XY cells, and evolved in several of seven additional analyses. The patient was treated with two courses of chemotherapy and failed to attain cytogenetic remission. While in relapse, the patient received a BMT from his 3-year-old brother. Two weeks later, a different translocation was seen in all cells: 46,XY,t(3;12)(p21;q21). This result could be interpreted in two ways: (1) the structural abnormality was indicative of a newly evolved clone related to the patient`s disease; or (2) the donor was a balanced translocation carrier. Cytogenetic analysis of peripheral blood from the donor revealed the same translocation seen in the patient. Parental blood chromosomes were normal indicating that the donor carried a de novo balanced translocation. Subsequent chromosome analysis of both peripheral blood and BM from the patient revealed the presence of the translocation in all cells. De novo balanced translocations are rare and occur with a frequency of 1/2,000 live borns. The family received genetic counseling and was informed of the possible reproductive risks to translocation carriers. This unusual finding will serve as a useful cytogenetic marker to assist in monitoring the patient`s clinical course, i.e., chimerism and remission status.

  20. Chronic radioisotope effects on residents of the Techa River (Russia) region: cytogenetic analysis more than 50 years after onset of exposure.

    PubMed

    Vozilova, A V; Shagina, N B; Degteva, M O; Akleyev, A V

    2013-08-30

    This paper presents the results of a cytogenetic study conducted among residents of the Techa Riverside communities (Southern Urals, Russia) exposed in the early 1950s as a result of releases of liquid radioactive wastes from the Mayak plutonium-production facility. The study was performed 50-60 years after the beginning of the exposure for those individuals who were predominantly exposed to strontium radioisotopes ((89,90)Sr) through drinking contaminated river water and consumption of local foodstuff. Standard cytogenetic methods were used for evaluation of the frequency of unstable chromosome aberrations in exposed persons as well as in persons from the control group who were of similar age and sex, living in similar socio-economic conditions in non-contaminated territories of the Southern Urals. The exposure doses were reconstructed for the studied donors using the Techa River Dosimetry System developed in 2009. The doses of internal exposure from ingested radionuclides were evaluated using individual or family in vivo measurements of (90)Sr-body burden. Individual cumulative absorbed doses in red bone marrow (RBM) in the studied persons varied in the range of 0.01-4.4Gy. A significantly higher level of unstable chromosome aberrations (UCA) in T-cells was observed in the group of exposed individuals as compared to control group. The highest UCA level was detected in the individuals who were suspected of having chronic radiation syndrome. PMID:23751212

  1. Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group

    PubMed Central

    Avet-Loiseau, Hervé; Lonial, Sagar; Usmani, Saad; Siegel, David; Anderson, Kenneth C.; Chng, Wee-Joo; Moreau, Philippe; Attal, Michel; Kyle, Robert A.; Caers, Jo; Hillengass, Jens; San Miguel, Jesús; van de Donk, Niels W. C. J.; Einsele, Hermann; Bladé, Joan; Durie, Brian G. M.; Goldschmidt, Hartmut; Mateos, María-Victoria; Palumbo, Antonio; Orlowski, Robert

    2016-01-01

    The International Myeloma Working Group consensus updates the definition for high-risk (HR) multiple myeloma based on cytogenetics Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16), t(14;20), nonhyperdiploidy, and gain(1q) were identified that confer poor prognosis. The prognosis of patients showing these abnormalities may vary with the choice of therapy. Treatment strategies have shown promise for HR cytogenetic diseases, such as proteasome inhibition in combination with lenalidomide/pomalidomide, double autologous stem cell transplant plus bortezomib, or combination of immunotherapy with lenalidomide or pomalidomide. Careful analysis of cytogenetic subgroups in trials comparing different treatments remains an important goal. Cross-trial comparisons may provide insight into the effect of new drugs in patients with cytogenetic abnormalities. However, to achieve this, consensus on definitions of analytical techniques, proportion of abnormal cells, and treatment regimens is needed. Based on data available today, bortezomib and carfilzomib treatment appear to improve complete response, progression-free survival, and overall survival in t(4;14) and del(17/17p), whereas lenalidomide may be associated with improved progression-free survival in t(4;14) and del(17/17p). Patients with multiple adverse cytogenetic abnormalities do not benefit from these agents. FISH data are implemented in the revised International Staging System for risk stratification. PMID:27002115

  2. Treatment of multiple myeloma with high-risk cytogenetics: a consensus of the International Myeloma Working Group.

    PubMed

    Sonneveld, Pieter; Avet-Loiseau, Hervé; Lonial, Sagar; Usmani, Saad; Siegel, David; Anderson, Kenneth C; Chng, Wee-Joo; Moreau, Philippe; Attal, Michel; Kyle, Robert A; Caers, Jo; Hillengass, Jens; San Miguel, Jesús; van de Donk, Niels W C J; Einsele, Hermann; Bladé, Joan; Durie, Brian G M; Goldschmidt, Hartmut; Mateos, María-Victoria; Palumbo, Antonio; Orlowski, Robert

    2016-06-16

    The International Myeloma Working Group consensus updates the definition for high-risk (HR) multiple myeloma based on cytogenetics Several cytogenetic abnormalities such as t(4;14), del(17/17p), t(14;16), t(14;20), nonhyperdiploidy, and gain(1q) were identified that confer poor prognosis. The prognosis of patients showing these abnormalities may vary with the choice of therapy. Treatment strategies have shown promise for HR cytogenetic diseases, such as proteasome inhibition in combination with lenalidomide/pomalidomide, double autologous stem cell transplant plus bortezomib, or combination of immunotherapy with lenalidomide or pomalidomide. Careful analysis of cytogenetic subgroups in trials comparing different treatments remains an important goal. Cross-trial comparisons may provide insight into the effect of new drugs in patients with cytogenetic abnormalities. However, to achieve this, consensus on definitions of analytical techniques, proportion of abnormal cells, and treatment regimens is needed. Based on data available today, bortezomib and carfilzomib treatment appear to improve complete response, progression-free survival, and overall survival in t(4;14) and del(17/17p), whereas lenalidomide may be associated with improved progression-free survival in t(4;14) and del(17/17p). Patients with multiple adverse cytogenetic abnormalities do not benefit from these agents. FISH data are implemented in the revised International Staging System for risk stratification. PMID:27002115

  3. Evaluating the effects of genetic variants of DNA repair genes using cytogenetic mutagen sensitivity approaches

    PubMed Central

    Abdel-Rahman, Sherif Z.; El-Zein, Randa A.

    2011-01-01

    Mutagen sensitivity, measured in short-term cultures of peripheral blood lymphocytes by cytogenetic endpoints, is an indirect measure for DNA repair capacity and has been used for many years as a biomarker for intrinsic susceptibility for cancer. In this article, we briefly give an overview of the different cytogenetic mutagen sensitivity approaches that have been used successfully to evaluate the biological effects of polymorphisms in DNA repair genes based on a current review of the literature and based on the need for biomarkers that would allow the characterization of the biological and functional significance of such polymorphisms. We also address some of the future challenges facing this emerging area of research. PMID:21595606

  4. Comparative application of direct sequencing, PCR-RFLP, and cytogenetic markers in the genetic characterization of Pimelodus (Siluriformes: Pimelodidae) species: possible implications for fish conservation.

    PubMed

    Ferreira, M; Bressane, K C O; Moresco, A R C; Moreira-Filho, O; Almeida-Toledo, L F; Garcia, C

    2014-01-01

    Pimelodus (Pimelodidae) is a genus comprising a group of South American species with complex taxonomic relationships. Cytogenetics, polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and sequencing data of mitochondrial genes were analyzed to characterize 4 Pimelodus species: P. fur, P. heraldoi, P. maculatus, and Pimelodus sp. All populations presented 2n=56 chromosomes and distinct karyotypic formulae. The heterochromatin distribution pattern and the number and location of 5S and 18S rDNA sites are discussed. The application of PCR-RFLP markers and sequencing of mitochondrial DNA genes provided species-specific haplotypes, which allowed us to differentiate the species studied. The mitochondrial gene sequences presented nucleotide mutations in the restriction sites and throughout the sequences, and they were mostly related to synonymous substitutions in the coded proteins; however, they did not affect the protein and its function. Comparing the data obtained using these 3 methodologies, the existence of a species complex in P. maculatus along the basins studied might be inferred, showing that cytogenetics is an important tool in studies focusing on the conservation or management of both natural and captive populations of these fishes. PMID:25036358

  5. The human autonomous karyotype and the origins of prenatal testing: children, pregnant women and early Down's syndrome cytogenetics, Madrid 1962-1975.

    PubMed

    Santesmases, María Jesús

    2014-09-01

    Through their ability to reveal and record abnormal chromosomes, whether inherited or accidentally altered, chromosomal studies, known as karyotyping, became the basis upon which medical genetics was constructed. The techniques involved became the visual evidence that confirmed a medical examination and were configured as a material culture for redefining health and disease, or the normal and the abnormal, in cytological terms. I will show that the study of foetal cells obtained by amniocentesis led to the stabilisation of karyotyping in its own right, while also keeping pregnant women under the vigilant medical eye. In the absence of any other examination, prenatal diagnosis by foetal karyotyping became autonomous from the foetal body. Although medical cytogenetics was practiced on an individual basis, data collected about patients over time contributed to the construction of population figures regarding birth defects. I study this complex trajectory by focussing on a Unit for Cytogenetics created in 1962 at the Clínica de la Concepción in Madrid. I incorporate the work and training of the clinicians who created the unit, and worked there as well as at other units in the large new hospitals of the national health care system built in Madrid during the mid-1960s and early 1970s. PMID:24998339

  6. [Gonadal dysgenesis--possible variation of clinical, hormonal, cytogenetic and histologic findings].

    PubMed

    Schwanitz, G; Tietze, H U; Zerres, K; Schaaff, A

    1983-01-01

    Errors of gonadal differentiation are influencing the sex differentiation on the whole in man. Since the methods in clinical cytogenetics improved, an exact chromosome investigation became possible, which enables the necessary therapy, the appropriate medical and psychological care, and the genetic counselling. Regarding our own observations, general surveys on the frequencies of the different syndromes and on the occurrence of the single clinical symptoms are given. PMID:6656171

  7. Modification of cytogenetic and physiological effects of space flight factors by biologically active compounds

    NASA Technical Reports Server (NTRS)

    Aliyev, A. A.; Mekhti-Zade, E. R.; Mashinskiy, A. L.; Alekperov, U. K.

    1986-01-01

    Physiological and cytogenetic changes in the Welsh onion plants induced by a short (82 days) and long term (522 days) space flight are expressed in decrease of seed germination, inhibition of stem growth, depression of cell division in root meristem, and increase in the number of structural chromosome rearrangements. The treatment of such plants with solutions of a-tocopherol, auxin, and kinetin decreased the level of chromosome aberrations to the control one and normalized cell divisions and growth partly or completely.

  8. Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature

    PubMed Central

    Ordulu, Zehra; Wong, Kristen E.; Currall, Benjamin B.; Ivanov, Andrew R.; Pereira, Shahrin; Althari, Sara; Gusella, James F.; Talkowski, Michael E.; Morton, Cynthia C.

    2014-01-01

    With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of “next-generation cytogenetics” (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting. PMID:24746958

  9. Atlas of genetics and cytogenetics in oncology and haematology in 2013.

    PubMed

    Huret, Jean-Loup; Ahmad, Mohammad; Arsaban, Mélanie; Bernheim, Alain; Cigna, Jérémy; Desangles, François; Guignard, Jean-Christophe; Jacquemot-Perbal, Marie-Christine; Labarussias, Maureen; Leberre, Vanessa; Malo, Anne; Morel-Pair, Catherine; Mossafa, Hossein; Potier, Jean-Claude; Texier, Guillaume; Viguié, Franck; Yau Chun Wan-Senon, Sylvie; Zasadzinski, Alain; Dessen, Philippe

    2013-01-01

    The Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://AtlasGeneticsOncology.org) is a peer-reviewed internet journal/encyclopaedia/database focused on genes implicated in cancer, cytogenetics and clinical entities in cancer and cancer-prone hereditary diseases. The main goal of the Atlas is to provide review articles that describe complementary topics, namely, genes, genetic abnormalities, histopathology, clinical diagnoses and a large iconography. This description, which was historically based on karyotypic abnormalities and in situ hybridization (fluorescence in situ hybridization) techniques, now benefits from comparative genomic hybridization and massive sequencing, uncovering a tremendous amount of genetic rearrangements. As the Atlas combines different types of information (genes, genetic abnormalities, histopathology, clinical diagnoses and external links), its content is currently unique. The Atlas is a cognitive tool for fundamental and clinical research and has developed into an encyclopaedic work. In clinical practice, it contributes to the cytogenetic diagnosis and may guide treatment decision making, particularly regarding rare diseases (because they are numerous and are frequently encountered). Readers as well as the authors of the Atlas are researchers and/or clinicians. PMID:23161685

  10. Integration of the cytogenetic and genetic linkage maps of Brassica oleracea.

    PubMed Central

    Howell, Elaine C; Barker, Guy C; Jones, Gareth H; Kearsey, Michael J; King, Graham J; Kop, Erik P; Ryder, Carol D; Teakle, Graham R; Vicente, Joana G; Armstrong, Susan J

    2002-01-01

    We have assigned all nine linkage groups of a Brassica oleracea genetic map to each of the nine chromosomes of the karyotype derived from mitotic metaphase spreads of the B. oleracea var. alboglabra line A12DHd using FISH. The majority of probes were BACs, with A12DHd DNA inserts, which give clear, reliable FISH signals. We have added nine markers to the existing integrated linkage map, distributed over six linkage groups. BACs were definitively assigned to linkage map positions through development of locus-specific PCR assays. Integration of the cytogenetic and genetic linkage maps was achieved with 22 probes representing 19 loci. Four chromosomes (2, 4, 7, and 9) are in the same orientation as their respective linkage groups (O4, O7, O8, and O6) whereas four chromosomes (1, 3, 5, and 8) and linkage groups (O3, O9, O2, and O1) are in the opposite orientation. The remaining chromosome (6) is probably in the opposite orientation. The cytogenetic map is an important resource for locating probes with unknown genetic map positions and is also being used to analyze the relationships between genetic and cytogenetic maps. PMID:12136025

  11. Clinical and Molecular Cytogenetic Characterisation of Children with Developmental Delay and Dysmorphic Features

    PubMed Central

    BERTOK, Sara; ŽERJAV TANŠEK, Mojca; KOTNIK, Primož; BATTELINO, Tadej; VOLK, Marija; PECILE, Vanna; CLEVA, Lisa; GASPARINI, Paolo; KOVAČ, Jernej; HOVNIK, Tinka

    2015-01-01

    Introduction Developmental delay and dysmorphic features affect 1 – 3 % of paediatric population. In the last few years molecular cytogenetic high resolution techniques (comparative genomic hybridization arrays and single-nucleotide polymorphism arrays) have been proven to be a first-tier choice for clinical diagnostics of developmental delay and dysmorphic features. Methods and results In the present article we describe the clinical advantages of molecular cytogenetic approach (comparative genomic hybridization arrays and single nucleotide polymorphism arrays) in the diagnostic procedure of two children with developmental delay, dysmorphic features and additional morphological phenotypes. Additionally, we demonstrate the necessity of fluorescent in situ hybridization utilisation to identify the localisation and underlying mechanism of detected chromosomal rearrangement. Conclusions Two types of chromosomal abnormalities were identified and confirmed using different molecular genetic approaches. Comparative genomic hybridization arrays and single nucleotide polymorphism arrays are hereby presented as important methods to identify chromosomal imbalances in patients with developmental delay and dysmorphic features. We emphasize the importance of molecular genetic testing in patients’ parents for the demonstration of the origin and clinical importance of the aberrations prior determined in the patients. The results obtained using molecular cytogenetic high resolution techniques methods are the cornerstone for proper genetic counselling to the affected families.

  12. Comparison of DNA probe and cytogenetic methods for identifying field collected Anopheles gambiae complex mosquitoes.

    PubMed

    Collins, F H; Petrarca, V; Mpofu, S; Brandling-Bennett, A D; Were, J B; Rasmussen, M O; Finnerty, V

    1988-12-01

    A recently developed DNA probe method was compared with the standard cytogenetic method for identifying the species of individual mosquitoes in the Anopheles gambiae complex. The complex consists of 6 morphologically indistinguishable sibling species that include the major African malaria vectors. Half-gravid, field collected mosquitoes were split into 2 portions: the abdomen was preserved for ovarian nurse cell cytotaxonomy and the head/thorax portion was desiccated for DNA extraction. Cytogenetic examination of the Kenya specimens showed 88 An. gambiae and 108 An. arabiensis. The Zimbabwe specimens consisted of 6 An. gambiae and 55 An. Quadriannulatus. All samples of the 3 species were polymorphic for the major chromosomal inversions previously recorded in field specimens from eastern and southern Africa, indicating that the collections reflected natural levels of intraspecific variation in the field populations sampled. Approximately 97% of the cytologically identified mosquitoes were also identified to species by the DNA probe method, and in every case the DNA probe and cytogenetic methods of species identification produced concordant results. PMID:3207175

  13. Cytogenetic analyses of two Curimatidae species (Pisces; Characiformes) from the Paranapanema and Tietê Rivers.

    PubMed

    De Rosa, L V S; Foresti, F; Martins, C; Oliveira, C; Sobrinho, P E; Wasko, A P

    2007-05-01

    Cytogenetic analyses were performed in two Curimatidae species (Steindachnerina insculpta and Cyphocharax modesta) from the Paranapanema and Tietê Rivers (São Paulo State, Brazil), showing a karyotype composed of 54 meta-submetacentric chromosomes in both species. Silver- and chromomycyn-staining and fluorescent in situ hybridization (FISH) using a 18S rDNA probe indicated that the nucleolar organizer regions (NORs) of both species are localized in the terminal region of the long arm of two metacentric chromosomes. Although a single NOR system was evidenced in both analyzed species, S. insculpta and C. modesta presented the nucleolar organizer regions in distinct chromosome pairs, indicating that these cistrons can be considered cytogenetic markers. Variation on the amount and distribution of the constitutive heterochromatin (C-bands) could also be detected between the two species - while S. insculpta presented few heterochromatic blocks, intensely stained C-bands were evidenced in C. modesta specially in the terminal region of the long arm of the NOR-bearing chromosomes. Although most Curimatidae species have been characterized by homogeneous karyotypes, isolated populations could be established under different environmental conditions leading to karyotype micro-structure variations specially related to the NORs localization and C-banding distribution. The obtained data were useful for the cytogenetic characterization and differentiation of S. insculpta and C. modesta and could be used in evolutionary inferences in the Curimatidae group. PMID:17876445

  14. Definition of the zebrafish genome using flow cytometry and cytogenetic mapping

    PubMed Central

    Freeman, Jennifer L; Adeniyi, Adeola; Banerjee, Ruby; Dallaire, Stephanie; Maguire, Sean F; Chi, Jianxiang; Ng, Bee Ling; Zepeda, Cinthya; Scott, Carol E; Humphray, Sean; Rogers, Jane; Zhou, Yi; Zon, Leonard I; Carter, Nigel P; Yang, Fengtang; Lee, Charles

    2007-01-01

    Background The zebrafish (Danio rerio) is an important vertebrate model organism system for biomedical research. The syntenic conservation between the zebrafish and human genome allows one to investigate the function of human genes using the zebrafish model. To facilitate analysis of the zebrafish genome, genetic maps have been constructed and sequence annotation of a reference zebrafish genome is ongoing. However, the duplicative nature of teleost genomes, including the zebrafish, complicates accurate assembly and annotation of a representative genome sequence. Cytogenetic approaches provide "anchors" that can be integrated with accumulating genomic data. Results Here, we cytogenetically define the zebrafish genome by first estimating the size of each linkage group (LG) chromosome using flow cytometry, followed by the cytogenetic mapping of 575 bacterial artificial chromosome (BAC) clones onto metaphase chromosomes. Of the 575 BAC clones, 544 clones localized to apparently unique chromosomal locations. 93.8% of these clones were assigned to a specific LG chromosome location using fluorescence in situ hybridization (FISH) and compared to the LG chromosome assignment reported in the zebrafish genome databases. Thirty-one BAC clones localized to multiple chromosomal locations in several different hybridization patterns. From these data, a refined second generation probe panel for each LG chromosome was also constructed. Conclusion The chromosomal mapping of the 575 large-insert DNA clones allows for these clones to be integrated into existing zebrafish mapping data. An accurately annotated zebrafish reference genome serves as a valuable resource for investigating the molecular basis of human diseases using zebrafish mutant models. PMID:17597531

  15. Informatics Enhanced SNP Microarray Analysis of 30 Miscarriage Samples Compared to Routine Cytogenetics

    PubMed Central

    Lathi, Ruth B.; Loring, Megan; Massie, Jamie A. M.; Demko, Zachary P.; Johnson, David; Sigurjonsson, Styrmir; Gemelos, George; Rabinowitz, Matthew

    2012-01-01

    Purpose The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. Methods Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing. Results Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days. Conclusions Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis. PMID:22403611

  16. CEBPA single mutation can be a possible favorable prognostic indicator in NPM1 and FLT3-ITD wild-type acute myeloid leukemia patients with intermediate cytogenetic risk.

    PubMed

    Park, Sang Hyuk; Chi, Hyun-Sook; Cho, Young-Uk; Jang, Seongsoo; Park, Chan-Jeoung

    2013-11-01

    The aim of this study was to evaluate the prognostic impact of CEBPA single mutation in acute myeloid leukemia (AML) patients with intermediate cytogenetic risk. CEBPA single and double mutations were detected in 11 (9.7%) and 17 (15.1%) of 113 NPM1 wild-type patients, but no CEBPA mutations were detected in a group of 44 NPM1 mutated patients. Among patients with NPM1/FLT3-ITD wild-type, those with CEBPA double mutations (P=0.013 and 0.007 for overall survival and relapse-free survival, respectively) or a single mutation (P=0.039 and 0.020 for overall survival and relapse-free survival, respectively) demonstrated a favorable prognosis compared with CEBPA wild-type patients. Subsequent multivariate analysis confirmed the favorable prognostic impact of CEBPA single and double mutations. Despite the low statistical power of this study due to the small number of patients, our preliminary data suggest that CEBPA single mutation may be associated with favorable clinical outcomes in NPM1/FLT3-ITD wild-type AML patients with intermediate cytogenetic risk. PMID:24054719

  17. Unlocking the Karyological and Cytogenetic Diversity of Iris from Lebanon: Oncocyclus Section Shows a Distinctive Profile and Relative Stasis during Its Continental Radiation.

    PubMed

    Abdel Samad, Nour; Bou Dagher-Kharrat, Magda; Hidalgo, Oriane; El Zein, Rana; Douaihy, Bouchra; Siljak-Yakovlev, Sonja

    2016-01-01

    Despite being an important target of conservation concern and horticultural interest, Lebanese irises yet have a confusing taxonomic history and species' delimitation is often considered problematic, more especially among royal irises (Iris section Oncocyclus). Indeed, these irises of exceptionally large and spectacular flowers have radiated across Caucasus and eastern Mediterranean giving rise to a number of strict endemic taxa, many of them being considered under threat. Whilst efforts have mostly focused on clarifying the evolutionary relationships in the group based on morphological and molecular data, karyological and cytogenetic characters have been comparatively overlooked. In this study, we established for the first time the physical mapping of 35S rDNA loci and heterochromatin, and obtained karyo-morphological data for ten Lebanese Iris species belonging to four sections (Iris, Limniris, Oncocyclus and Scorpiris). Our results evidenced distinctive genomic profiles for each one of the sections, where Oncocyclus irises, while having the lowest chromosome numbers, exhibit both the highest number of 35S loci and CMA3+ sites. The continental radiation of royal irises has been accompanied by a relative karyological and cytogenetic stasis, even though some changes were observed regarding karyotype formula and asymmetry indexes. In addition to that, our results enabled taxonomic differentiation between I. germanica and I. mesopotamica-two taxa currently considered as synonyms-and highlighted the need for further studies on populations of I. persica and I. wallasiae in the Eastern Mediterranean Region. PMID:27525415

  18. Unlocking the Karyological and Cytogenetic Diversity of Iris from Lebanon: Oncocyclus Section Shows a Distinctive Profile and Relative Stasis during Its Continental Radiation

    PubMed Central

    Abdel Samad, Nour; Bou Dagher-Kharrat, Magda; Hidalgo, Oriane; El Zein, Rana; Douaihy, Bouchra; Siljak-Yakovlev, Sonja

    2016-01-01

    Despite being an important target of conservation concern and horticultural interest, Lebanese irises yet have a confusing taxonomic history and species’ delimitation is often considered problematic, more especially among royal irises (Iris section Oncocyclus). Indeed, these irises of exceptionally large and spectacular flowers have radiated across Caucasus and eastern Mediterranean giving rise to a number of strict endemic taxa, many of them being considered under threat. Whilst efforts have mostly focused on clarifying the evolutionary relationships in the group based on morphological and molecular data, karyological and cytogenetic characters have been comparatively overlooked. In this study, we established for the first time the physical mapping of 35S rDNA loci and heterochromatin, and obtained karyo-morphological data for ten Lebanese Iris species belonging to four sections (Iris, Limniris, Oncocyclus and Scorpiris). Our results evidenced distinctive genomic profiles for each one of the sections, where Oncocyclus irises, while having the lowest chromosome numbers, exhibit both the highest number of 35S loci and CMA3+ sites. The continental radiation of royal irises has been accompanied by a relative karyological and cytogenetic stasis, even though some changes were observed regarding karyotype formula and asymmetry indexes. In addition to that, our results enabled taxonomic differentiation between I. germanica and I. mesopotamica–two taxa currently considered as synonyms–and highlighted the need for further studies on populations of I. persica and I. wallasiae in the Eastern Mediterranean Region. PMID:27525415

  19. Cytogenetic Analysis of the South American Fruit Fly Anastrepha fraterculus (Diptera:Tephritidae) Species Complex: Construction of Detailed Photographic Polytene Chromosome Maps of the Argentinian Af. sp.1 Member.

    PubMed

    Gariou-Papalexiou, Angeliki; Giardini, María Cecilia; Augustinos, Antonios A; Drosopoulou, Elena; Lanzavecchia, Silvia B; Cladera, Jorge L; Caceres, Carlos; Bourtzis, Kostas; Mavragani-Tsipidou, Penelope; Zacharopoulou, Antigone

    2016-01-01

    Genetic and cytogenetic studies constitute a significant basis for understanding the biology of insect pests and the design and the construction of genetic tools for biological control strategies. Anastrepha fraterculus is an important pest of the Tephritidae family. It is distributed from southern Texas through eastern Mexico, Central America and South America causing significant crop damage and economic losses. Currently it is considered as a species complex; until now seven members have been described based on multidisciplinary approaches. Here we report the cytogenetic analysis of an Argentinian population characterized as Af. sp.1 member of the Anastrepha fraterculus species complex. The mitotic karyotype and the first detailed photographic maps of the salivary gland polytene chromosomes are presented. The mitotic metaphase complement consists of six (6) pairs of chromosomes, including one pair of heteromorphic sex chromosomes, with the male being the heterogametic sex. The analysis of the salivary gland polytene complement shows a total number of five long chromosomes that correspond to the five autosomes of the mitotic karyotype and a heterochromatic network corresponding to the sex chromosomes. Comparison of the polytene chromosome maps between this species and Anastrepha ludens shows significant similarity. The polytene maps presented here are suitable for cytogenetic studies that could shed light on the species limits within this species complex and support the development of genetic tools for sterile insect technique (SIT) applications. PMID:27362546

  20. Cytogenetic Analysis of the South American Fruit Fly Anastrepha fraterculus (Diptera:Tephritidae) Species Complex: Construction of Detailed Photographic Polytene Chromosome Maps of the Argentinian Af. sp.1 Member

    PubMed Central

    Augustinos, Antonios A.; Drosopoulou, Elena; Lanzavecchia, Silvia B.; Cladera, Jorge L.; Caceres, Carlos; Bourtzis, Kostas; Mavragani-Tsipidou, Penelope; Zacharopoulou, Antigone

    2016-01-01

    Genetic and cytogenetic studies constitute a significant basis for understanding the biology of insect pests and the design and the construction of genetic tools for biological control strategies. Anastrepha fraterculus is an important pest of the Tephritidae family. It is distributed from southern Texas through eastern Mexico, Central America and South America causing significant crop damage and economic losses. Currently it is considered as a species complex; until now seven members have been described based on multidisciplinary approaches. Here we report the cytogenetic analysis of an Argentinian population characterized as Af. sp.1 member of the Anastrepha fraterculus species complex. The mitotic karyotype and the first detailed photographic maps of the salivary gland polytene chromosomes are presented. The mitotic metaphase complement consists of six (6) pairs of chromosomes, including one pair of heteromorphic sex chromosomes, with the male being the heterogametic sex. The analysis of the salivary gland polytene complement shows a total number of five long chromosomes that correspond to the five autosomes of the mitotic karyotype and a heterochromatic network corresponding to the sex chromosomes. Comparison of the polytene chromosome maps between this species and Anastrepha ludens shows significant similarity. The polytene maps presented here are suitable for cytogenetic studies that could shed light on the species limits within this species complex and support the development of genetic tools for sterile insect technique (SIT) applications. PMID:27362546

  1. [Genetic polymorphism of flax Linum usitatissimum based on use of molecular cytogenetic markers].

    PubMed

    Rachinskaia, O A; Lemesh, V A; Muravenko, O V; Iurkevich, O Iu; Guzenko, E V; Bol'sheva, N L; Bogdanova, M V; Samatadze, T E; Popov, K V; Malyshev, S V; Shostak, N G; Heller, K; Khotyleva, L V; Zelenin, A V

    2011-01-01

    Using a set of approaches based on the use of molecular cytogenetic markers (DAPI/C-banding, estimation of the total area of DAPI-positive regions in prophase nuclei, FISH with 26S and 5S rDNA probes) and the microsatellite (SSR-PCR) assay, we studied genomic polymorphism in 15 flax (Linum usitatissimum L.) varieties from different geographic regions belonging to three directions of selection (oil, fiber, and intermediate flaxes) and in the k-37 x Viking hybrid. All individual chromosomes have been identified in the karyotypes of these varieties on the basis of the patterns of differential DAPI/C-banding and the distribution of 26S and 5S rDNA, and idiograms of the chromosomes have been generated. Unlike the oil flax varieties, the chromosomes in the karyotypes of the fiber flax varieties have, as a rule, pericentromeric and telomeric DAPI-positive bands of smaller size, but contain larger intercalary regions. Two chromosomal rearrangements (chromosome 3 inversions) were discovered in the variety Luna and in the k-37 x Viking hybrid. In both these forms, no colocalization of 26S rDNA and 5S rDNA on the satellite chromosome was detected. The SSR assay with the use of 20 polymorphic pairs of primers revealed 22 polymorphic loci. Based on the SSR data, we analyzed genetic similarity of the flax forms studied and constructed a genetic similarity dendrogram. The genotypes studied here form three clusters. The oil varieties comprise an independent cluster. The genetically related fiber flax varieties Vita and Luna, as well as the landrace Lipinska XIII belonging to the intermediate type, proved to be closer to the oil varieties than the remaining fiber flax varieties. The results of the molecular chromosomal analysis in the fiber and oil flaxes confirm their very close genetic similarity. In spite of this, the combined use of the chromosomal and molecular markers has opened up unique possibilities for describing the genotypes of flax varieties and creating their genetic

  2. Cytogenetic analysis of three sea catfish species (Teleostei, Siluriformes, Ariidae) with the first report of Ag-NOR in this fish family

    PubMed Central

    2010-01-01

    Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been karyotyped. Cytogenetic analyses performed on Genidens barbus and Sciades herzbergii revealed that both species have 2n = 56 chromosomes and Cathorops aff. mapale has 2n = 52 chromosomes: Genidens barbus has 10 Metacentrics (M), 14 Submetacentrics (SM), 26 Subtelocentrics (ST), and 6 Acrocentrics (A), Sciades herzbergii has 14M, 20SM, 18ST and 4A, whereas Cathorops aff. mapale has 14M, 20SM, and 18ST. The nucleolus organizer regions (NORs) were found in a single chromosome pair on the short arm of a large-sized ST pair in Genidens barbus and on the short arm of a middle-size SM pair in Cathorops aff. mapale. Multiple NORs on the short arms of two large-sized ST pairs were found in Sciades herzbergii. The occurrence of diploid numbers ranging from 2n = 52 through 56 chromosomes and the presence of different karyotypic compositions, besides the number and position of NORs suggest that several numeric and structural chromosome rearrangements were fixed during the evolutionary history of this fish family. PMID:21637480

  3. The use of a novel combination of diagnostic molecular and cytogenetic approaches in horses with sexual karyotype abnormalities: a rare case with an abnormal cellular chimerism.

    PubMed

    Demyda-Peyrás, S; Anaya, G; Bugno-Poniewierska, M; Pawlina, K; Membrillo, A; Valera, M; Moreno-Millán, M

    2014-05-01

    Sex chromosome aberrations are known to cause congenital abnormalities and unexplained infertility in horses. Most of these anomalies remain undiagnosed because of the complexity of the horse karyotype and the lack of specialized laboratories that can perform such diagnoses. On the other hand, the utilization of microsatellite markers is a technique widely spread in horse breeding, mostly because of their usage in parentage tests. We studied the usage of a novel combination of diagnostic approaches in the evaluation of a very uncommon case of chromosomal abnormalities in a Spanish purebred colt, primarily detected using a commercial panel of short tandem repeat (STR) makers. Based on these results, we performed a full cytogenetic analysis using conventional and fluorescent in situ hybridization techniques with individual Equus caballus chromosome X and Equus caballus chromosome Y painting probes. We also tested the presence of two genes associated with the sexual development in horses and an extra novel panel of eight microsatellite markers specifically located in the sex chromosome pair. This is the first case report of a leukocyte chimerism between chromosomally normal (64,XY) and abnormal (63,X0) cell lines in horses. Our results indicate that the use of the short tandem repeat markers as a screening technique and as a confirmation utilizing cytogenetic techniques can be used as a very interesting, easy, and nonexpensive diagnostic approach to detect chromosomal abnormalities in the domestic horse. PMID:24612694

  4. Utilization of cytogenetic biomarkers as a tool for assessment of radiation injury and evaluation of radiomodulatory effects of various medicinal plants – a review

    PubMed Central

    Samarth, Ravindra M; Samarth, Meenakshi; Matsumoto, Yoshihisa

    2015-01-01

    Systematic biological measurement of “cytogenetic endpoints” has helped phenomenally in assessment of risks associated with radiation exposure. There has been a surge in recent times for the usage of radioactive materials in health care, agriculture, industrial, and nuclear power sectors. The likelihood of radiation exposure from accidental or occupational means is always higher in an overburdened ecosystem that is continuously challenged to meet the population demands. Risks associated with radiation exposure in this era of modern industrial growth are minimal as international regulations for maintaining the safety standards are stringent and strictly adhered to, however, a recent disaster like “Fukushima” impels us to think beyond. The major objective of radiobiology is the development of an orally effective radio-modifier that provides protection from radiation exposure. Once available for mass usage, these compounds will not only be useful for providing selective protection against accidental and occupational radiation exposure but also help to permit use of higher doses of radiation during treatment of various malignancies curtailing unwarranted adverse effects imposed on normal tissues. Bio-active compounds isolated from natural sources enriched with antioxidants possess unique immune-modulating properties, thus providing a double edged benefit over synthetic radioprotectors. We aim to provide here a comprehensive overview of the various agents originating from plant sources that portrayed promising radioprotection in various experimental models with special emphasis on studies that used cytogenetic biomarkers. The agents will include crude extracts of various medicinal plants, purified fractions, and herbal preparations. PMID:26451089

  5. Utilization of cytogenetic biomarkers as a tool for assessment of radiation injury and evaluation of radiomodulatory effects of various medicinal plants - a review.

    PubMed

    Samarth, Ravindra M; Samarth, Meenakshi; Matsumoto, Yoshihisa

    2015-01-01

    Systematic biological measurement of "cytogenetic endpoints" has helped phenomenally in assessment of risks associated with radiation exposure. There has been a surge in recent times for the usage of radioactive materials in health care, agriculture, industrial, and nuclear power sectors. The likelihood of radiation exposure from accidental or occupational means is always higher in an overburdened ecosystem that is continuously challenged to meet the population demands. Risks associated with radiation exposure in this era of modern industrial growth are minimal as international regulations for maintaining the safety standards are stringent and strictly adhered to, however, a recent disaster like "Fukushima" impels us to think beyond. The major objective of radiobiology is the development of an orally effective radio-modifier that provides protection from radiation exposure. Once available for mass usage, these compounds will not only be useful for providing selective protection against accidental and occupational radiation exposure but also help to permit use of higher doses of radiation during treatment of various malignancies curtailing unwarranted adverse effects imposed on normal tissues. Bio-active compounds isolated from natural sources enriched with antioxidants possess unique immune-modulating properties, thus providing a double edged benefit over synthetic radioprotectors. We aim to provide here a comprehensive overview of the various agents originating from plant sources that portrayed promising radioprotection in various experimental models with special emphasis on studies that used cytogenetic biomarkers. The agents will include crude extracts of various medicinal plants, purified fractions, and herbal preparations. PMID:26451089

  6. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

    PubMed

    Guilherme, Roberta Santos; Soares, Karina Cunha; Simioni, Milena; Vieira, Tarsis Paiva; Gil-da-Silva-Lopes, Vera Lúcia; Kim, Chong Ae; Brunoni, Décio; Spinner, Nancy Bettina; Conlin, Laura Kathleen; Christofolini, Denise Maria; Kulikowski, Leslie Domenici; Steiner, Carlos Eduardo; Melaragno, Maria Isabel

    2014-07-01

    We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex Ligation-dependent Probe Amplification) and genome-wide SNP-array analysis. The ring was found in all patients, but Patient 6 displayed constitutional mosaicism with a normal cell line. Five patients had deletions in the ring chromosome 22, and in four of them the breakpoints--unique for each patient--could be identified by genome-wide SNP-array analysis. One patient presented with a 22q11.2 deletion concomitant with the deletion caused by the ring formation. Common phenotypic features included autism, speech delay and seizures, as previously reported for individuals with r(22) and/or 22q13.3 deletions. Investigation of the genes within the deletions revealed multiple genes related to development of the central nervous system, psychomotor delay, severe language impairment, hypotonia, and autistic symptoms. There was no clear correlation between the severity of clinical features and the size of the deleted segment. This study underscores the variability in ring structure and clinical presentation of the r(22) and adds information to the limited literature on this rare disorder. PMID:24700634

  7. Clonal evolution in chronic lymphocytic leukemia detected by fluorescence in situ hybridization and conventional cytogenetics after stimulation with CpG oligonucleotides and interleukin-2: a prospective analysis.

    PubMed

    Brejcha, Martin; Stoklasová, Martina; Brychtová, Yvona; Panovská, Anna; Štěpanovská, Kristina; Vaňková, Gabriela; Plevová, Karla; Oltová, Alexandra; Horká, Kateřina; Pospíšilová, Šárka; Mayer, Jiří; Doubek, Michael

    2014-02-01

    Chronic lymphocytic leukemia (CLL) patients may acquire new chromosome abnormalities during the course of their disease. Clonal evolution (CE) has been detected by conventional chromosome banding (CBA), several groups also confirmed CE with fluorescence in situ hybridization (FISH). At present, there are minimal prospective data on CE frequency determined using a combination of both methods. Therefore, the aim of our study was to prospectively assess CE frequency using a combination of FISH and CBA after stimulation with CpG oligonucleotides and interleukin-2. Between 2008 and 2012, we enrolled 140 patients with previously untreated CLL in a prospective trial evaluating CE using FISH and CBA after stimulation. Patients provided baseline and regular follow-up peripheral blood samples for testing. There was a median of 3 cytogenetic examinations (using both methods) per patient. CE was detected in 15.7% (22/140) of patients using FISH, in 28.6% (40/140) using CBA, and in 34.3% (48/140) of patients by combining both methods. Poor-prognosis CE (new deletion 17p, new deletion 11q or new complex karyotype) was detected in 15% (21/140) of patients and was significantly associated with previous CLL treatment (p=0.013). CBA provides more complex information about cytogenetic abnormalities in CLL patients than FISH and confirms that many patients can acquire new abnormalities during the course of their disease in a relatively short time period. PMID:24246692

  8. Relative effectiveness of HZE iron-56 particles for the induction of cytogenetic damage in vivo

    NASA Technical Reports Server (NTRS)

    Brooks, A.; Bao, S.; Rithidech, K.; Couch, L. A.; Braby, L. A.

    2001-01-01

    particles suggest that at least part of the cytogenetic damage measured was caused by the delta rays. Much of the energy deposited by the primary HZE particles may result in cell killing and may therefore be "wasted" as far as production of detectable micronuclei is concerned. The role of wasted energy in studies of cancer induction may be important in risk estimates for exposure to HZE particles.

  9. Comparative molecular cytogenetics of major repetitive sequence families of three Dendrobium species (Orchidaceae) from Bangladesh

    PubMed Central

    Begum, Rabeya; Alam, Sheikh Shamimul; Menzel, Gerhard; Schmidt, Thomas

    2009-01-01

    Background and Aims Dendrobium species show tremendous morphological diversity and have broad geographical distribution. As repetitive sequence analysis is a useful tool to investigate the evolution of chromosomes and genomes, the aim of the present study was the characterization of repetitive sequences from Dendrobium moschatum for comparative molecular and cytogenetic studies in the related species Dendrobium aphyllum, Dendrobium aggregatum and representatives from other orchid genera. Methods In order to isolate highly repetitive sequences, a c0t-1 DNA plasmid library was established. Repeats were sequenced and used as probes for Southern hybridization. Sequence divergence was analysed using bioinformatic tools. Repetitive sequences were localized along orchid chromosomes by fluorescence in situ hybridization (FISH). Key Results Characterization of the c0t-1 library resulted in the detection of repetitive sequences including the (GA)n dinucleotide DmoO11, numerous Arabidopsis-like telomeric repeats and the highly amplified dispersed repeat DmoF14. The DmoF14 repeat is conserved in six Dendrobium species but diversified in representative species of three other orchid genera. FISH analyses showed the genome-wide distribution of DmoF14 in D. moschatum, D. aphyllum and D. aggregatum. Hybridization with the telomeric repeats demonstrated Arabidopsis-like telomeres at the chromosome ends of Dendrobium species. However, FISH using the telomeric probe revealed two pairs of chromosomes with strong intercalary signals in D. aphyllum. FISH showed the terminal position of 5S and 18S–5·8S–25S rRNA genes and a characteristic number of rDNA sites in the three Dendrobium species. Conclusions The repeated sequences isolated from D. moschatum c0t-1 DNA constitute major DNA families of the D. moschatum, D. aphyllum and D. aggregatum genomes with DmoF14 representing an ancient component of orchid genomes. Large intercalary telomere-like arrays suggest chromosomal

  10. The prognostic value of FISH as an adjunct to conventional cytogenetics for the detection of cryptic gene rearrangements on chromosome 16. A retrospective investigation of 13 patients from Northern Ireland diagnosed with M4Eo acute myeloid leukaemia.

    PubMed

    McGrattan, P; Humphreys, M W

    2003-05-01

    M4Eo acute myeloid leukaemia (AML) patients with the typical chromosome 16 abnormalities have a favourable prognosis. These subtle 16q22 gene rearrangements can be difficult to detect by conventional cytogenetic methods and if missed could lead to the incorrect assignment of prognostic group and hence subsequent treatment strategies. We retrospectively studied 13 patients diagnosed with M4Eo AML for such chromosome 16 abnormalities comparing conventional cytogenetic (G-banding) and molecular (FISH) methods. G-banded analysis detected only 2 patients with definite chromosome 16 abnormalities whereas FISH detected 4 patients, one with the typical inversion and three with the typical chromosome 16 translocation. FISH analysis also confirmed a false +ve G-banded result in one patient and a false -ve G-banded result in another patient. Finally, FISH confirmed a deletion of one chromosome 16 homologue in another patient indicating a poor prognosis. The overall survival of patients with the typical 16q22 rearrangements (n=4) was also significantly better (P=0.007) than patients with normal chromosome 16 homologues or having other numerical and/or structural abnormalities (n=9). This set of data shows that FISH is a more accurate method for the detection of cryptic 16q22 gene rearrangements and because of the prognostic implications has become a mandatory test along with conventional cytogenetics for all newly diagnosed M4Eo AML patients in Northern Ireland. PMID:12868698

  11. The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.

    PubMed

    Demyda-Peyrás, S; Membrillo, A; Bugno-Poniewierska, M; Pawlina, K; Anaya, G; Moreno-Millán, M

    2013-01-01

    Chromosomal abnormalities associated to sex chromosomes are reported as a problem more common than believed to be in horses. Most of them remain undiagnosed due to the complexity of the horse karyotype and the lack of interest of breeders and veterinarians in this type of diagnosis. Approximately 10 years ago, the Spanish Purebred Breeders Association implemented a DNA paternity test to evaluate the pedigree of every newborn foal. All candidates who showed abnormal or uncertain results are routinely submitted to cytogenetical analysis to evaluate the presence of chromosomal abnormalities. We studied the case of a foal showing 3 and even 4 different alleles in several loci in the short tandem repeat (STR) -based DNA parentage test. To confirm these results, a filiation test was repeated using follicular hair DNA showing normal results. A complete set of conventional and molecular cytogenetic analysis was performed to determine their chromosomal complements. C-banding and FISH had shown that the foal presents a sex chimerism 64,XX/64,XY with a cellular percentage of approximately 70/30, diagnosed in blood samples. The use of a diagnostic approach combining routine parentage QF-PCR-based STR screening tested with classical or molecular cytogenetic analysis could be a powerful tool that allows early detection of foals that will have a poor or even no reproductive performance due to chromosomal abnormalities, saving time, efforts and breeders' resources. PMID:23735586

  12. Primary plasma cell leukemia: clinical, immunophenotypic, DNA ploidy, and cytogenetic characteristics.

    PubMed

    García-Sanz, R; Orfão, A; González, M; Tabernero, M D; Bladé, J; Moro, M J; Fernández-Calvo, J; Sanz, M A; Pérez-Simón, J A; Rasillo, A; Miguel, J F

    1999-02-01

    treatment used, MP or polychemotherapy. Ten variables seemed to predict survival in PCL patients, but only the beta2-microglobulin level and S-phase PCs retained an independent value in multivariate analysis. In summary, our study illustrates that PCs from PCL display singular phenotypic, DNA cell content, and cytogenetic characteristics that lead to a different disease evolution versus MM. PMID:9920853

  13. Comparative genomics of Lupinus angustifolius gene-rich regions: BAC library exploration, genetic mapping and cytogenetics

    PubMed Central

    2013-01-01

    Background The narrow-leafed lupin, Lupinus angustifolius L., is a grain legume species with a relatively compact genome. The species has 2n = 40 chromosomes and its genome size is 960 Mbp/1C. During the last decade, L. angustifolius genomic studies have achieved several milestones, such as molecular-marker development, linkage maps, and bacterial artificial chromosome (BAC) libraries. Here, these resources were integratively used to identify and sequence two gene-rich regions (GRRs) of the genome. Results The genome was screened with a probe representing the sequence of a microsatellite fragment length polymorphism (MFLP) marker linked to Phomopsis stem blight resistance. BAC clones selected by hybridization were subjected to restriction fingerprinting and contig assembly, and 232 BAC-ends were sequenced and annotated. BAC fluorescence in situ hybridization (BAC-FISH) identified eight single-locus clones. Based on physical mapping, cytogenetic localization, and BAC-end annotation, five clones were chosen for sequencing. Within the sequences of clones that hybridized in FISH to a single-locus, two large GRRs were identified. The GRRs showed strong and conserved synteny to Glycine max duplicated genome regions, illustrated by both identical gene order and parallel orientation. In contrast, in the clones with dispersed FISH signals, more than one-third of sequences were transposable elements. Sequenced, single-locus clones were used to develop 12 genetic markers, increasing the number of L. angustifolius chromosomes linked to appropriate linkage groups by five pairs. Conclusions In general, probes originating from MFLP sequences can assist genome screening and gene discovery. However, such probes are not useful for positional cloning, because they tend to hybridize to numerous loci. GRRs identified in L. angustifolius contained a low number of interspersed repeats and had a high level of synteny to the genome of the model legume G. max. Our results showed that

  14. Cytogenetic effects in bone marrow cells of mice exposed on the biosatellite "BION-M1"

    NASA Astrophysics Data System (ADS)

    Dorozhkina, Olga; Ivanov, Alexander

    In studies of cytogenetic damage in blood lymphocytes of astronauts, conducted in recent years, have shown an increase in the frequency of chromosomal damage bound, as believe, with influence on an organism of astronauts of space radiation (B.S. Fedorenko, G.P. Snigireva, 2004). However, in recent years published evidence that both acute and chronic stress induce chromosomal aberrations and modified genome sensitivity to mutagens of different nature, including to ionizing radiation (F.I. Ingel et al, 2005 ). This question is especially actual for space biology and medicine due to a number of specific features of space flights, when the interaction of factors more pronounced than in normal terrestrial conditions. In experiment "BION - M1" by anaphase method was determined level of chromosomal aberrations in bone marrow cells of tibia of mice. Flight duration biosatellite "BION - M1" was 30 days in Earth orbit. Euthanasia of experimental animals was carried out at intervals of 15-20 minutes by method of cervical dislocation after 12 hours from the moment of landing satellite. Level of chromosomal aberrations in vivarium-housed control mice was 1,75 ± 0,6% and 1,8 ± 0,45%, while the mitotic index 1,46 ± 0,09% and 1,53 ± 0,05%. Differences are not significant. The maintenance of animals in experiment with the onboard equipment (ground experiment) led to some increase in aberrant mitoses (2,3 ± 0,4%) and to decrease in a mitotic index (1,37 ± 0,02%). In the flight experiment "BION - M1" statistically significant increase of level of chromosomal aberrations (29,7 ± 4,18%) and a decrease in the mitotic index (0,74 ± 0,07%). Since the mouse is a suitable experimental model , also had several ground experiments on research of combined effect of irradiation and other stress factors specific to space flight, with marked tendency to increase the level of aberrant mitoses under the combined action of radiation and stress exposure group housing male mice. Statistically

  15. Cytogenetic and morphometric analysis in the species Astyanax altiparanae Garutti & Britski, 2000 (Teleostei, Characidae) from the Iguatemi River Basin, Brazil.

    PubMed

    Fernandes, Carlos Alexandre; Da Rocha, Rafael Henrique; Bailly, Dayani; Guterres, Zaira Da Rosa; Alves, Diandra Soares; Martins-Santos, Isabel Cristina

    2014-01-01

    The genus Astyanax is relatively common and encompasses various similar taxa forming a highly complex group that is difficult to precisely delimit. The present study aims to analyze cytogenetically and morphologically specimens of A. altiparanae belonging to distinct populations of the Iguatemi River Basin, Mato Grosso do Sul State, Brazil, for a better understanding of the evolutionary processes in this fish group. This study analysed 32 specimens of Astyanax altiparanae from Iguatemi River basin, MS, Brazil: 24 from the Agua Boa stream and 8 from the Santa Maria stream. All specimens showed a diploid number equal to 50 chromosomes with differences in the karyotypic formula and types of chromosomes bearing the NOR between the two localities. The constitutive heterochromatin showed interstitial markings evident in the region of some chromosomes in both populations. In the morphometric analysis, the first three axes were retained for interpretation which together explained 81% of variance, showing morphometric distinction between populations. Chromosomal and morphometric data obtained may be useful for taxonomic and phylogenetic studies in this group of fish. PMID:25403073

  16. FLT3-ITD-associated gene-expression signatures in NPM1-mutated cytogenetically normal acute myeloid leukemia.

    PubMed

    Huang, Liang; Zhou, Kuangguo; Yang, Yunfan; Shang, Zhen; Wang, Jue; Wang, Di; Wang, Na; Xu, Danmei; Zhou, Jianfeng

    2012-08-01

    Concomitance of the FLT3-ITD mutation is associated with poor prognosis in NPM1-mutated cytogenetically normal acute myeloid leukemia (CN-AML) patients, and precise studies on its role in leukemogenesis are needed; these may be elucidated at the molecular level by gene express profiling. In the present study, we built a gene-expression-based classifier using prediction analysis of microarray to characterize the FLT3-ITD signature in NPM1-mutated CN-AML patients, which comprised 10 annotated genes, and demonstrated an overall accuracy of 83.8 % in cross-validation. To characterize the signature in another way, differential expression was revealed for 34 genes by class comparison, and the up-regulation of LAPTM4B and MIR155HG was validated by quantitative RT-PCR in our small cohort of NPM1-mutated CN-AML samples, which appeared to be associated with this specific subtype. The 10-gene classifier and differentially expressed genes identified in this study indicate a potential utility for risk-assessed treatment stratification, and suggest new therapeutic targets for these high-risk AML patients. PMID:22688855

  17. Evaluation of 1100 couples with recurrent pregnancy loss using conventional cytogenetic, PGD, and PGS: hype or hope.

    PubMed

    Farahmand, Kamelia; Kalantari, Hamid; Fakhri, Mostafa; Fazeli, Abolhasan Shahzadeh; Moradi, Shabnam Zari; Almadani, Navid; Hashemi, Mehrdad; Gourabi, Hamid; Mohseni-Meybodi, Anahita

    2016-06-01

    Recurrent pregnancy loss (RPL) is an important clinical problem, mostly resulting from chromosomal or genetic defects, while in 30-60% of cases, it is idiopathic. The aim of this study is to evaluate the frequency and types of chromosomal abnormalities, also pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) outcomes among Iranian couples with RPL. This retrospective study was conducted on 1100 Iranian couples (2200 individuals) with RPL referred to Royan Institute between 2008 and 2014. Karyotyping had been performed using standard cytogenetic techniques. PGD results of RPL patients with abnormal karyotypes and PGS results of RPL patients with normal karyotypes were also analyzed. The frequency of chromosomal abnormalities in these patients was 4.95%. Women demonstrated more abnormalities (6.82%) in comparison to men (3.09%). The successful rate of pregnancy after PGD and PGS was 52 and 18.64%, respectively. The observation of 4.95% chromosomal abnormalities among the patients with RPL could support this hypothesis that there is a direct relationship between chromosomal abnormalities and RPL. More than half of the patients who underwent PGD had successful pregnancy; therefore, this approach can improve the success rate of pregnancy in them. The results of PGS cycles showed that this technique could increase the live birth rate in RPL patients. PMID:26854690

  18. Molecular cytogenetic analysis of monoecious hemp (Cannabis sativa L.) cultivars reveals its karyotype variations and sex chromosomes constitution.

    PubMed

    Razumova, Olga V; Alexandrov, Oleg S; Divashuk, Mikhail G; Sukhorada, Tatiana I; Karlov, Gennady I

    2016-05-01

    Hemp (Cannabis sativa L., 2n = 20) is a dioecious plant. Sex expression is controlled by an X-to-autosome balance system consisting of the heteromorphic sex chromosomes XY for males and XX for females. Genetically monoecious hemp offers several agronomic advantages compared to the dioecious cultivars that are widely used in hemp cultivation. The male or female origin of monoecious maternal plants is unknown. Additionally, the sex chromosome composition of monoecious hemp forms remains unknown. In this study, we examine the sex chromosome makeup in monoecious hemp using a cytogenetic approach. Eight monoecious and two dioecious cultivars were used. The DNA of 210 monoecious plants was used for PCR analysis with the male-associated markers MADC2 and SCAR323. All monoecious plants showed female amplification patterns. Fluorescence in situ hybridization (FISH) with the subtelomeric CS-1 probe to chromosomes plates and karyotyping revealed a lack of Y chromosome and presence of XX sex chromosomes in monoecious cultivars with the chromosome number 2n = 20. There was a high level of intra- and intercultivar karyotype variation detected. The results of this study can be used for further analysis of the genetic basis of sex expression in plants. PMID:26149370

  19. Comparative cytogenetics of six Indo-Pacific moray eels (Anguilliformes: Muraenidae) by chromosomal banding and fluorescence in situ hybridization.

    PubMed

    Coluccia, E; Deidda, F; Cannas, R; Lobina, C; Cuccu, D; Deiana, A M; Salvadori, S

    2015-09-01

    A comparative cytogenetic analysis, using both conventional staining techniques and fluorescence in situ hybridization, of six Indo-Pacific moray eels from three different genera (Gymnothorax fimbriatus, Gymnothorax flavimarginatus, Gymnothorax javanicus, Gymnothorax undulatus, Echidna nebulosa and Gymnomuraena zebra), was carried out to investigate the chromosomal differentiation in the family Muraenidae. Four species displayed a diploid chromosome number 2n = 42, which is common among the Muraenidae. Two other species, G. javanicus and G. flavimarginatus, were characterized by different chromosome numbers (2n = 40 and 2n = 36). For most species, a large amount of constitutive heterochromatin was detected in the chromosomes, with species-specific C-banding patterns that enabled pairing of the homologous chromosomes. In all species, the major ribosomal genes were localized in the guanine-cytosine-rich region of one chromosome pair, but in different chromosomal locations. The (TTAGGG)n telomeric sequences were mapped onto chromosomal ends in all muraenid species studied. The comparison of the results derived from this study with those available in the literature confirms a substantial conservation of the diploid chromosome number in the Muraenidae and supports the hypothesis that rearrangements have occurred that have diversified their karyotypes. Furthermore, the finding of two species with different diploid chromosome numbers suggests that additional chromosomal rearrangements, such as Robertsonian fusions, have occurred in the karyotype evolution of the Muraenidae. PMID:26242690

  20. Cytogenetic data on six leafcutter ants of the genus Acromyrmex Mayr, 1865 (Hymenoptera, Formicidae, Myrmicinae): insights into chromosome evolution and taxonomic implications.

    PubMed

    Barros, Luísa Antônia Campos; de Aguiar, Hilton Jeferson Alves Cardoso; Mariano, Cléa Dos Santos Ferreira; Andrade-Souza, Vanderly; Costa, Marco Antonio; Delabie, Jacques Hubert Charles; Pompolo, Silvia das Graças

    2016-01-01

    Cytogenetic data for the genus Acromyrmex Mayr, 1865 are available, to date, for a few species from Brazil and Uruguay, which have uniform chromosome numbers (2n = 38). The recent cytogenetic data of Acromyrmex striatus (Roger, 1863), including its banding patterns, showed a distinct karyotype (2n = 22), similar to earlier studied Atta Fabricius, 1804 species. Karyological data are still scarce for the leafcutter ants and many gaps are still present for a proper understanding of this group. Therefore, this study aimed at increasing cytogenetic knowledge of the genus through the characterization of other six species: Acromyrmex balzani (Emery, 1890), Acromyrmex coronatus Fabricius, 1804, Acromyrmex disciger (Mayr, 1887), Acromyrmex echinatior (Forel, 1899), Acromyrmex niger (Smith, 1858) and Acromyrmex rugosus (Smith, 1858), all of which were collected in Minas Gerais - Brazil, except for Acromyrmex echinatior which was collected in Barro Colorado - Panama. The number and morphology of the chromosomes were studied and the following banding techniques were applied: C-banding, fluorochromes CMA3 and DAPI, as well as the detection of 45S rDNA using FISH technique. All the six species had the same chromosome number observed for already studied species, i.e. 2n = 38. Acromyrmex balzani had a different karyotype compared with other species mainly due to the first metacentric pair. The heterochromatin distribution also showed interspecific variation. Nevertheless, all the studied species had a pair of bands in the short arm of the first subtelocentric pair. The fluorochrome CMA3 visualized bands in the short arm of the first subtelocentric pair for all the six species, while Acromyrmex rugosus and Acromyrmex niger also demonstrated in the other chromosomes. The AT-rich regions with differential staining using DAPI were not observed. 45S ribosomal genes were identified by FISH in the short arm of the first subtelocentric pair in Acromyrmex coronatus, Acromyrmex disciger and

  1. Cytogenetic data on six leafcutter ants of the genus Acromyrmex Mayr, 1865 (Hymenoptera, Formicidae, Myrmicinae): insights into chromosome evolution and taxonomic implications

    PubMed Central

    Barros, Luísa Antônia Campos; de Aguiar, Hilton Jeferson Alves Cardoso; Mariano, Cléa dos Santos Ferreira; Andrade-Souza, Vanderly; Costa, Marco Antonio; Delabie, Jacques Hubert Charles; Pompolo, Silvia das Graças

    2016-01-01

    Abstract Cytogenetic data for the genus Acromyrmex Mayr, 1865 are available, to date, for a few species from Brazil and Uruguay, which have uniform chromosome numbers (2n = 38). The recent cytogenetic data of Acromyrmex striatus (Roger, 1863), including its banding patterns, showed a distinct karyotype (2n = 22), similar to earlier studied Atta Fabricius, 1804 species. Karyological data are still scarce for the leafcutter ants and many gaps are still present for a proper understanding of this group. Therefore, this study aimed at increasing cytogenetic knowledge of the genus through the characterization of other six species: Acromyrmex balzani (Emery, 1890), Acromyrmex coronatus Fabricius, 1804, Acromyrmex disciger (Mayr, 1887), Acromyrmex echinatior (Forel, 1899), Acromyrmex niger (Smith, 1858) and Acromyrmex rugosus (Smith, 1858), all of which were collected in Minas Gerais – Brazil, except for Acromyrmex echinatior which was collected in Barro Colorado – Panama. The number and morphology of the chromosomes were studied and the following banding techniques were applied: C-banding, fluorochromes CMA3 and DAPI, as well as the detection of 45S rDNA using FISH technique. All the six species had the same chromosome number observed for already studied species, i.e. 2n = 38. Acromyrmex balzani had a different karyotype compared with other species mainly due to the first metacentric pair. The heterochromatin distribution also showed interspecific variation. Nevertheless, all the studied species had a pair of bands in the short arm of the first subtelocentric pair. The fluorochrome CMA3 visualized bands in the short arm of the first subtelocentric pair for all the six species, while Acromyrmex rugosus and Acromyrmex niger also demonstrated in the other chromosomes. The AT-rich regions with differential staining using DAPI were not observed. 45S ribosomal genes were identified by FISH in the short arm of the first subtelocentric pair in Acromyrmex coronatus, Acromyrmex

  2. A cytogenetic and comparative map of camelid chromosome 36 and the minute in alpacas.

    PubMed

    Avila, Felipe; Baily, Malorie P; Merriwether, David A; Trifonov, Vladimir A; Rubes, Jiři; Kutzler, Michelle A; Chowdhary, Renuka; Janečka, Jan; Raudsepp, Terje

    2015-06-01

    Recent advances in camelid genomics have provided draft sequence assemblies and the first comparative and gene maps for the dromedary (CDR) and the alpaca (LPA). However, no map information is currently available for the smallest camelid autosome-chr36. The chromosome is also of clinical interest because of its involvement in the minute chromosome syndrome (MCS) in infertile alpacas. Here, we developed molecular markers for camelid chr36 by direct sequencing CDR36 and LPA minute and by bioinformatics analysis of alpaca unplaced sequence scaffolds. We constructed a cytogenetic map for chr36 in the alpaca, llama, and dromedary and showed its homology to human chromosome 7 (HSA7) at 49.8-55.5 Mb. The chr36 map comprised seven markers, including two genes-ZPBP and WVC2. Comparative status of HSA7 was further refined by cytogenetic mapping of 16 HSA7 orthologs in camelid chromosomes 7 and 18 and by the analysis of HSA7-conserved synteny blocks across 11 vertebrate species. Finally, mapping chr36 markers in infertile alpacas confirmed that the minute chromosome was a derivative of chr36, but the small size was not a result of a large deletion or a translocation. Instead, cytogenetic mapping of 5.8S, 18S, and 28S rRNA genes (nucleolus organizer region (NOR)) revealed that the size difference between chr36 homologs in infertile alpacas was due to a heterozygous presence of NOR, whereas chr36 in fertile alpacas had no NOR. We theorized that the heterozygous NOR might affect chr36 pairing, recombination, and segregation in meiosis and, thus fertility. PMID:25634498

  3. [Problems occurring in the application of cytogenetic biomarkers for alcoholics with and without malignant diseases].

    PubMed

    Gundy, Sarolta; Székely, Gábor; Farkas, Gyöngyi; Pulay, Attila; Remenár, Eva

    2008-06-01

    Applicability of alcohol- and smoking-related cancer-risk biomarkers might be modified by several factors. Among those, reality of self-reports on alcohol consumption of alcoholic patients with different diseases and extreme high mutagen hypersensitivity of Hungarians, as well as the immunologic role of peripheral lymphocytes as experimental objects of cytogenetic biomarkers seem to be new viewpoints of interest. To clarify these problems, 432 head and neck cancer patients (HNCP), 62 alcoholics with alcoholic hepatitis (ALCL), and 101 disease-free chronic alcoholics (ALC) were examined. Despite clinically confirmed alcohol-related diagnoses (and GGT and MCV values) only about half of HNCPs and ALCLs reported about any alcohol consumption, in contrast to the realistic self-reports of ALCs. In cytogenetic case control investigations no difference between the spontaneous rate of chromosomal aberrations (CAs) of healthy controls and ALCs was found, however, genetic instability expressed as a 40-50% elevation rate of CAs in HNCPs and ALCLs might be associated with systemic inflammatory reaction of lymphocytes. Bleomycin sensitivity assay showed the highest break/cell (b/c) values not in HNCPs (1.06 b/c) as it was reported earlier, but in "healthy" ALCs (1.52 b/c). This phenomenon can be related to the local effect of genotoxins (alcohol, smoking, and in particular the diet), which probably reflects merely a reaction of mucosal immune system. Nearly 50% of mutagen-hypersensitive Hungarian controls, in contrary to the expected 10-20% ones, might also be explained by this. Similarly, HNCPs with oral cancer, where the local mutagen effect was the most intensive, had the highest b/c values. In conclusion, when cytogenetic biomarkers of alcoholism are examined, the subjective character of self-reports at epidemiologic level and immunologic role of lymphocyte subpopulations as genetic confounders must also be taken into consideration. PMID:18640891

  4. Identification of differentially methylated markers among cytogenetic risk groups of acute myeloid leukemia.

    PubMed

    Qu, Xiaoyu; Davison, Jerry; Du, Liping; Storer, Barry; Stirewalt, Derek L; Heimfeld, Shelly; Estey, Elihu; Appelbaum, Frederick R; Fang, Min

    2015-01-01

    Aberrant DNA methylation is known to occur in cancer, including hematological malignancies such as acute myeloid leukemia (AML). However, less is known about whether specific methylation profiles characterize specific subcategories of AML. We examined this issue by using comprehensive high-throughput array-based relative methylation analysis (CHARM) to compare methylation profiles among patients in different AML cytogenetic risk groups. We found distinct profiles in each group, with the high-risk group showing overall increased methylation compared with low- and mid-risk groups. The differentially methylated regions (DMRs) distinguishing cytogenetic risk groups of AML were enriched in the CpG island shores. Specific risk-group associated DMRs were located near genes previously known to play a role in AML or other malignancies, such as MN1, UHRF1, HOXB3, and HOXB4, as well as TRIM71, the function of which in cancer is not well characterized. These findings were verified by quantitative bisulfite pyrosequencing and by comparison with results available at the TCGA cancer genome browser. To explore the potential biological significance of the observed methylation changes, we correlated our findings with gene expression data available through the TCGA database. The results showed that decreased methylation at HOXB3 and HOXB4 was associated with increased gene expression of both HOXB genes specific to the mid-risk AML, while increased DNA methylation at DCC distinctive to the high-risk AML was associated with increased gene expression. Our results suggest that the differential impact of cytogenetic changes on AML prognosis may, in part, be mediated by changes in methylation. PMID:25996682

  5. Identification of differentially methylated markers among cytogenetic risk groups of acute myeloid leukemia

    PubMed Central

    Qu, Xiaoyu; Davison, Jerry; Du, Liping; Storer, Barry; Stirewalt, Derek L; Heimfeld, Shelly; Estey, Elihu; Appelbaum, Frederick R; Fang, Min

    2015-01-01

    Aberrant DNA methylation is known to occur in cancer, including hematological malignancies such as acute myeloid leukemia (AML). However, less is known about whether specific methylation profiles characterize specific subcategories of AML. We examined this issue by using comprehensive high-throughput array-based relative methylation analysis (CHARM) to compare methylation profiles among patients in different AML cytogenetic risk groups. We found distinct profiles in each group, with the high-risk group showing overall increased methylation compared with low- and mid-risk groups. The differentially methylated regions (DMRs) distinguishing cytogenetic risk groups of AML were enriched in the CpG island shores. Specific risk-group associated DMRs were located near genes previously known to play a role in AML or other malignancies, such as MN1, UHRF1, HOXB3, and HOXB4, as well as TRIM71, the function of which in cancer is not well characterized. These findings were verified by quantitative bisulfite pyrosequencing and by comparison with results available at the TCGA cancer genome browser. To explore the potential biological significance of the observed methylation changes, we correlated our findings with gene expression data available through the TCGA database. The results showed that decreased methylation at HOXB3 and HOXB4 was associated with increased gene expression of both HOXB genes specific to the mid-risk AML, while increased DNA methylation at DCC distinctive to the high-risk AML was associated with increased gene expression. Our results suggest that the differential impact of cytogenetic changes on AML prognosis may, in part, be mediated by changes in methylation. PMID:25996682

  6. Benefit of high-dose daunorubicin in AML induction extends across cytogenetic and molecular groups.

    PubMed

    Luskin, Marlise R; Lee, Ju-Whei; Fernandez, Hugo F; Abdel-Wahab, Omar; Bennett, John M; Ketterling, Rhett P; Lazarus, Hillard M; Levine, Ross L; Litzow, Mark R; Paietta, Elisabeth M; Patel, Jay P; Racevskis, Janis; Rowe, Jacob M; Tallman, Martin S; Sun, Zhuoxin; Luger, Selina M

    2016-03-24

    The initial report of the Eastern Cooperative Oncology Group-American College of Radiology Imaging Network Cancer Research Group trial E1900 (#NCT00049517) showed that induction therapy with high-dose (HD) daunorubicin (90 mg/m(2)) improved overall survival in adults <60 years old with acute myeloid leukemia (AML); however, at initial analysis, the benefit was restricted to younger patients (<50 years) and patients without unfavorable cytogenetics or aFLT3-ITD mutation. Here, we update the results of E1900 after longer follow-up (median, 80.1 months among survivors), focusing on the benefit of HD daunorubicin on common genetic subgroups. Compared with standard-dose daunorubicin (45 mg/m(2)), HD daunorubicin is associated with a hazard ratio (HR) for death of 0.74 (P= .001). Younger patients (<50 years) benefited from HD daunorubicin (HR, 0.66;P= .002), as did patients with favorable and intermediate cytogenetics (HR, 0.51;P= .03 and HR, 0.68;P= .01, respectively). Patients with unfavorable cytogenetics were shown to benefit from HD daunorubicin on multivariable analysis (adjusted HR, 0.66;P= .04). Patients withFLT3-ITD (24%),DNMT3A(24%), andNPM1(26%) mutant AML all benefited from HD daunorubicin (HR, 0.61,P= .009; HR, 0.62,P= .02; and HR, 0.50,P= .002; respectively). HD benefit was seen in the subgroup of older patients (50-60 years) with theFLT3-ITD orNPM1mutation. Additionally, the presence of anNPM1mutation confers a favorable prognosis only for patients receiving anthracycline dose intensification during induction. PMID:26755712

  7. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish country

    SciTech Connect

    Petersen, M.B.; Brondum-Nielsen, K.; Hansen, L.K.; Wulff, K.

    1995-06-19

    Angelman syndrome (AS) was initially considered a rather rare abnormality, but in later years, with the possibilities for cytogenetic and molecular diagnosis an increasing number of patients have been reported. The incidence is quoted to be around 1:20,000. The etiology of AS is associated with the lack of maternal allele(s) of one or more loci at 15q11-q13, and is considered an effect of parental imprinting of that region, since a similar deficiency of paternal alleles leads to Prader-Willi syndrome. 9 refs., 1 tab.

  8. Cytogenetic characterization of a fibroma and three haemangiopericytomas in domestic dogs.

    PubMed

    Mayr, B; Scheller, M; Reifinger, M; Loupal, G

    1995-01-01

    Cytogenetic evaluation of tumour cells taken from an 11-year-old mixed breed birth with a fibroma, showed trisomy 1 (2n = 79) and often the presence of a third copy of chromosome 4. In a 13-year-old mixed breed Boxer bitch with a haemangiopericytoma, trisomy 9 (2n = 79) was present. In contrast, another haemangiopericytoma (in a 15-year-old rough-haired Dachshund bitch) showed a deleted chromosome 1, several centric fusions and trisomy 2. Trisomy 2 and trisomy 29 were detected in a third haemangiopericytoma from an 11-year-old rough-haired Dachshund bitch. PMID:7552199

  9. Cytogenetic effects of aqueous extracts of the medicinal plant paico (chenopodium multifidum L.).

    PubMed

    Gadano, A; Gurni, A; Nigro López, M; López, P; Gratti, A; van Baren, C; Ferraro, G; Carballo, M

    2000-01-01

    The cytogenetic effects of aqueous extracts of Chenopodium multifidum L. (Paico) were determined by addition of the extracts and fractions to human lymphocyte cultures. Toxicity was evaluated by analysis of chromosomal aberrations (CA), sister chromatid exchange (SCE), mitotic (MI) and replication (RI) indexes. The results showed an increase in CA frequency in cultures exposed to infusion decoction, no modification in the CPK values either in the decoction or in the infusion, and a decrease in the MI of lymphocyte cultures exposed to the decoction. These results suggested genotoxic effects of "Paico" aqueous extracts. PMID:21214432

  10. Wing Membrane Biopsies for Bat Cytogenetics: Finding of 2n = 54 in Irish Rhinolophushipposideros (Rhinolophidae, Chiroptera, Mammalia) Supports Two Geographically Separated Chromosomal Variants in Europe.

    PubMed

    Kacprzyk, Joanna; Teeling, Emma C; Kelleher, Conor; Volleth, Marianne

    2016-01-01

    In Europe, 2 different diploid chromosome numbers, 2n = 54 and 2n = 56, have been described in the lesser horseshoe bat (Rhinolophushipposideros). The eastern form with 2n = 56 extends from the Czech Republic to Greece. To date, specimens with 54 chromosomes have been reported only from Spain and Germany. This study expands the distributional area of the western variant to Ireland. Strikingly, this distribution of European chromosomal variants is in contrast to the available molecular data that indicate little genetic differentiation of R. hipposideros populations spanning Northwestern to Central Europe. Further, we have developed an optimized protocol for establishing fibroblast cell cultures, suitable for karyotype analyses, from 3-mm wing membrane biopsies. This is a useful technique for cytogenetic studies of endangered bat species, as this non-lethal sampling method imposes only minimum stress to the animal without lasting adverse effects and is routinely used to sample tissue probes for molecular genetic studies in bats. PMID:27333200

  11. Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.

    PubMed

    Heinritz, Wolfram; Kotzot, Dieter; Heinze, Stefan; Kujat, Annegret; Kleemann, Werner J; Froster, Ursula G

    2005-01-15

    We report on an adult male with Klinefelter phenotype and an isodicentric Y chromosome (47,XX,+idic(Y)(q12)), a combination which has to the best of our knowledge not been reported before. The patient was hospitalized in forensic psychiatry because of repeated delinquency, aggressive, aberrant and inappropriate behavior, and borderline intelligence. Molecular cytogenetic studies (FISH) showed that the SRY gene was present on both ends of the idicY, while there was only one signal for the Yq subtelomere probe. Molecular investigations by multiplex PCR, using STS markers covering the short and long arm of the Y chromosome did not indicate a deletion of Y chromosomal material. Molecular investigations of STR markers located on Xp22.3 and Xq28 indicated paternal origin of the additional X chromosome and an error in paternal meiosis I. Results of FISH analysis and molecular investigations are compatible with a phenotype as described for individuals with a 48,XXYY karyotype and support the findings that isodicentric Y chromosomes are frequently accompanied by other sex chromosomal abnormalities. PMID:15578587

  12. Molecular Cytogenetics in Digenean Parasites: Linked and Unlinked Major and 5S rDNAs, B Chromosomes and Karyotype Diversification.

    PubMed

    García-Souto, Daniel; Pasantes, Juan J

    2015-01-01

    Digenetic trematodes are the largest group of internal metazoan parasites, but their chromosomes are poorly studied. Although chromosome numbers and/or karyotypes are known for about 300 of the 18,000 described species, molecular cytogenetic knowledge is mostly limited to the mapping of telomeric sequences and/or of major rDNA clusters in 9 species. In this work we mapped major and 5S rDNA clusters and telomeric sequences in chromosomes of Bucephalus minimus, B. australis, Prosorhynchoides carvajali (Bucephaloidea), Monascus filiformis (Gymnophalloidea), Parorchis acanthus (Echinostomatoidea), Cryptocotyle lingua (Opisthorchioidea), Cercaria longicaudata, Monorchis parvus (Monorchioidea), Diphterostomum brusinae, and Bacciger bacciger (Microphalloidea). Whilst single major and minor rDNA clusters were mapped to different chromosome pairs in B. minimus and P. acanthus, overlapping signals were detected on a single chromosome pair in the remaining taxa. FISH experiments using major rDNA and telomeric probes clearly demonstrated the presence of highly stretched NORs in most of the digenean taxa analyzed. B chromosomes were detected in the B. bacciger samples hosted by Ruditapes decussatus. Although the cercariae specimens obtained from Donax trunculus, Tellina tenuis, and R. decussatus were in agreement with B. bacciger, their karyotypes showed striking morphological differences in agreement with the proposed assignation of these cercariae to different species of the genus Bacciger. Results are discussed in comparison with previous data on digenean chromosomes. PMID:26680763

  13. Continuous cytogenetic follow-up, over 5 years, of three individuals accidentally irradiated by a cobalt-60 source.

    PubMed

    Wang, Zhi-Dong; Zhang, Xue-Qing; Du, Jie; Lu, Xue; Wang, Yuan; Tian, Rong; Liu, Qing-Jie; Chen, Ying

    2015-02-01

    A cobalt-60 irradiation accident occurred in Shanxi, China, on April 11, 2008. Five people were exposed to total-body irradiation ranging from 1.7 to 14.5 Gy. Two victims died post-irradiation, due to acute intestinal radiation sickness (at 62 days) and tuberculosis (at 1.5 year). The other three victims received medical follow-ups and were monitored for 5 years with multiple cytogenetic analyses. Unstable chromosome aberrations, including dicentric and centric rings (dic+r) and the micronucleus frequency in binucleated lymphocytes, were monitored. In addition, G-banding karyotype and fluorescence in situ hybridization (FISH) methods were used to analyze translocations, for exploring chromosome stability and for retrospective dosimetry. The results show that unstable chromosome aberrations (dic+r) declined each year, dropping to about 20-40% of initial levels by the 5th year. A similar trend was observed for the micronucleus frequency. Our results show that the translocation frequencies of the three victims, detected by G-banding karyotype, remained stable for the 5 years. Five years after irradiation, the translocation rates of the three victims (G-banding and FISH analyses) were similar. The retrospective estimated doses, reconstructed based on the translocation frequencies, were consistent with the biological doses estimated at the first day post-irradiation using dic+r. The results of this study indicate that chromosome translocation frequencies can be used as a biological dosimeter and are an excellent index for dose reconstruction. PMID:25813720

  14. Cytogenetic toxicity and gonadal effects of 17 α-methyltestosterone in Astyanax bimaculatus (Characidae) and Oreochromis niloticus (Cichlidae).

    PubMed

    Rivero-Wendt, C L G; Miranda-Vilela, A L; Ferreira, M F N; Borges, A M; Grisolia, C K

    2013-01-01

    The synthetic hormone, 17-α-methyltestosterone (MT), is used in fish hatcheries to induce male monosex. Androgenic effects on various fish species have been reported; however, few studies have assessed possible genotoxic effects, although there are concerns about such effects in target and non-target species. We evaluated genotoxic and gonadal effects of MT in adult tilapia (Oreochromis niloticus) and Astyanax bimaculatus (a common native non-target fish in Brazil). Fish were fed for 28 days with ration containing MT (60 mg/L), a normal dose used in fish farming. Evaluation of MT genotoxicity was carried out through micronucleus test, nuclear abnormality, and comet assay analyses on peripheral erythrocyte cells collected by cardiac puncture. There were no significant differences in micronucleus frequencies and DNA damage in both species; however, MT caused cytogenetic toxicity in the non-target species, A. bimaculatus, with significantly increased erythrocyte nuclear abnormalities. Histopathological analyses of the female gonads of O. niloticus revealed that MT significantly inhibited the development of mature oocytes, while in A. bimaculatus it provoked significant inhibition of spermatozoa production. We concluded that discharge of fish-hatcheries water onto the surface of aquatic ecosystems should be avoided due to risks to reproduction of native species. PMID:24085447

  15. Comparative cytogenetics of two endangered leuciscine fish, Squalius aradensis and S. torgalensis (Teleostei, Cyprinidae), from the Iberian Peninsula.

    PubMed

    Nabais, Catarina; Rampin, Massimiliano; Collares-Pereira, Maria João

    2013-01-01

    In this study, the description of the karyotypes of the endangered chubs Squalius aradensis (Coelho, Bogutskaya, Rodrigues and Collares-Pereira, 1998) and Squalius torgalensis (Coelho, Bogutskaya, Rodrigues and Collares-Pereira, 1998) is presented by means of conventional (Giemsa-staining, Chromomycin A3 (CMA3)-fluorescence, Silver-impregnation (Ag-NORs)) and molecular (fluorescence in situ hybridization (FISH) with 18S rDNA probe) protocols. These endemic sister-species have an allopatric but adjacent distribution in the most southwestern part of the Iberian Peninsula. Diploid chromosome number was invariably 2n = 50 and karyotypes of both species were grossly similar, composed of metacentric and submetacentric elements with a reduced number of acrocentric pairs. Sequential staining using FISH with an 18S rDNA probe, CMA3 and Ag-NORs treatments revealed consistent positive signals located at the end of the short arms of a submetacentric chromosome pair, likely homologous in both species. While providing useful cytogenetic comparative data against other members of the genus Squalius Bonaparte, 1837, the work aimed to draw attention towards the conservation of two narrow-range and highly confined fish species. PMID:24260688

  16. Molecular cytogenetics of Alstroemeria: identification of parental genomes in interspecific hybrids and characterization of repetitive DNA families in constitutive heterochromatin.

    PubMed

    Kuipers, A G; van Os, D P; de Jong, J H; Ramanna, M S

    1997-02-01

    The genus Alstroemeria consists of diploid (2n = 2x = 16) species originating mainly from Chile and Brazil. Most cultivars are triploid or tetraploid interspecific hybrids. C-banding of eight species revealed obvious differentiation of constitutive heterochromatin within the genus. The present study focused on the molecular (cyto)genetic background of this differentiation. Genomic slot-blot analysis demonstrated strong conservation of major parts of the genomes among six species. The chromosomes of A. aurea and A. ligtu, species with pronounced interstitial C-bands, were found to contain large amounts of highly repetitive and species-specific DNA. The variation in size, number and intensity of strongly probed bands of major repetitive DNA families observed in genomic Southern blots of Sau3A, HaeIII, and MseI digests indicated a strong correlation between variation in genomic DNA composition and different C-banding patterns among Alstroemeria species. Genomic in situ hybridization (GISH) revealed a clear distinction between parental chromosomes in the hybrids between Chilean and Brazilian species and also between Chilean species, as long as at least one of the parental species possessed prominent C-banding. Regarding the latter, discriminative hybridization resulted from highly repetitive species specific DNA in the heterochromatic chromosome regions of A. aurea and A. ligtu, and caused GISH banding patterns that coincided with the C-banding patterns. PMID:9088641

  17. [Detection of mixed lymphoid chimerism after allogeneic bone marrow transplantation: demonstration by interphase cytogenetics in paraffin-embedded tissue].

    PubMed

    Friedrich, T; Ott, G; Kalla, J; Helbig, W; Schwenke, H; Kubel, M; Pönisch, W; Feyer, P; Friedrich, A

    1994-01-01

    In bone marrow transplantation (BMT) the detection of residual host lymphoid or haematopoietic cells surviving conditioning therapy is because of its association to graft-versus-host disease, graft-versus-leukemia reaction, and relapse of leukemia a matter of great interest. We studied the occurrence of this mixed lymphoid chimerism (MC) in the formol-fixed lymphatic tissue of lymph nodes and spleen from 21 autopsies after allogeneic sex-mismatched BMT (5 females, 16 males, survival 5 to 1140 days after BMT). In situ hybridisation with biotinylated centromer-specific anti-X- and anti-Y-chromosome probes was performed on pepsin-digested paraffin sections. The number of double X-, single X-, and Y-chromosome bearing cells was analysed microscopically. Because of artefacts only 14 cases remained for valid investigation. MC was detected in 6 cases (5 out of 11 males 5 days to 840 days and 1 out of 3 females 76 days after BMT). MC occurred after whole body irradiation with 10 Gy (n = 5) and 7 Gy (n = 1). In 1 autopsy relapse of leukemia caused host cell infiltration. Cases with MC did not express histological signs of acute or chronic graft-versus-host disease, but 5 out of 8 with complete lymphoid chimerism did. The sensitivity of interphase cytogenetics on paraffin embedded tissue is low. PMID:7534002

  18. An 86-probe-set gene-expression signature predicts survival in cytogenetically normal acute myeloid leukemia

    PubMed Central

    Metzeler, Klaus H.; Hummel, Manuela; Bloomfield, Clara D.; Spiekermann, Karsten; Braess, Jan; Sauerland, Maria-Cristina; Heinecke, Achim; Radmacher, Michael; Marcucci, Guido; Whitman, Susan P.; Maharry, Kati; Paschka, Peter; Larson, Richard A.; Berdel, Wolfgang E.; Büchner, Thomas; Wörmann, Bernhard; Mansmann, Ulrich; Hiddemann, Wolfgang

    2008-01-01

    Patients with cytogenetically normal acute myeloid leukemia (CN-AML) show heterogeneous treatment outcomes. We used gene-expression profiling to develop a gene signature that predicts overall survival (OS) in CN-AML. Based on data from 163 patients treated in the German AMLCG 1999 trial and analyzed on oligonucleotide microarrays, we used supervised principal component analysis to identify 86 probe sets (representing 66 different genes), which correlated with OS, and defined a prognostic score based on this signature. When applied to an independent cohort of 79 CN-AML patients, this continuous score remained a significant predictor for OS (hazard ratio [HR], 1.85; P = .002), event-free survival (HR = 1.73; P = .001), and relapse-free survival (HR = 1.76; P = .025). It kept its prognostic value in multivariate analyses adjusting for age, FLT3 ITD, and NPM1 status. In a validation cohort of 64 CN-AML patients treated on CALGB study 9621, the score also predicted OS (HR = 4.11; P < .001), event-free survival (HR = 2.90; P < .001), and relapse-free survival (HR = 3.14, P < .001) and retained its significance in a multivariate model for OS. In summary, we present a novel gene-expression signature that offers additional prognostic information for patients with CN-AML. PMID:18716133

  19. 42 CFR 493.1276 - Standard: Clinical cytogenetics.

    Code of Federal Regulations, 2013 CFR

    2013-10-01

    ... study required based on the clinical information provided to the laboratory. (3) An adequate number of... analysis. (d) The laboratory report must include a summary and interpretation of the observations, number... printing, and reporting and storage of results, karyotypes, and photographs. (b) The laboratory must...

  20. Rapid prenatal diagnosis of cytogenetic abnormalities by array CGH analysis

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Array CGH analysis has been shown to be highly accurate for rapid detection of chromosomal aneuploidies and submicroscopic deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. The objective of this study is to present our "post-validation phase" experience with ...

  1. The accumulation of stable cytogenetic rearrangements with age-determined by chromosome painting

    SciTech Connect

    Ramsey, M.J.; Lee, D.A.; Senft, J.R.; Briner, J.F.; Moore, D.H. II; Tucker, J.D.

    1994-12-31

    Chromosome painting is a rapid method of quantifying structural chromosomal rearrangements. The method is particularly useful for detecting stable aberrations which are difficult and expensive to quantify with classical methods. Translocations, being inherently stable, can be used as a biodosimeter for chronic and temporally-displaced exposure to radiation. Translocations may also be useful for quantifying chronic exposure to environmentally related agents which may result in an accumulation of cytogenetic damage with age. Because most chemical exposures are low and chronic, conventional cytogenetic methods are not expected to be informative. To understand the extent that age and lifestyle factors impact the frequency of stable aberrations, we used chromosome painting in healthy individuals who have not been occupationally or accidentally exposed to radiation or chemicals, and who have not received chemo- or radiotherapy. To date we have analyzed 15 umbilical cord bloods as well as peripheral blood samples from 83 adults aged up to 77 years. Because stable aberrations are rare in unexposed people, we have scored large numbers of cells from each subject. Thus far we have analyzed the equivalent of more than 78,000 metaphases from these 83 people, and have observed an average of 0.75% of cells with translocations or stable insertions. A significant curvilinear relationship with age is apparent (R{sup 2} = 0.69, p <0.00001). No effect with smoking was seen.

  2. Malignant myoepithelioma of soft tissue: a case report with cytogenetic findings.

    PubMed

    Balogh, Zsófia; Deák, Linda; Sápi, Zoltán

    2008-06-01

    Soft tissue malignant myoepithelioma (STMM) is a particularly rare tumor displaying myoepithelial elements and lacking obvious ductal differentiation. From the one case report with cytogenetic data available in the literature, STMM seems to be a distinct entity with some resemblance to chordoma on the one hand and myoepithelioma on the other. The present case of STMM yielded novel data from high-resolution comparative genomic hybridization (HR-CGH) analysis. An 82-year-old female patient presented with a soft tissue tumor within the deep soft tissues in the right gluteal muscle measuring 16 x 13 x 11 cm. Histologically, the lesion was diagnosed as a myoepithelial carcinoma. Immunohistochemistry was focally positive for pancytokeratin, EMA, S-100 protein, and alpha smooth muscle actin. HR-CGH analysis revealed gains of 1p31 approximately p34, 1q21 approximately q23, 9q12 approximately q33, and 16q22 and losses of 1p11 approximately p22, 1q24 approximately q44, 3p, 10q11.1 approximately q22, 13q, 14q13 approximately q24, and 15q. Subsequent fluorescence in situ hybridization analysis confirmed deletion of 3p, gain of 16q, and monosomy of chromosomes 13 and 15. These results support the hypothesis that STMM is a distinct entity, not sharing the cytogenetic alterations of salivary gland myoepithelial carcinomas and ductal carcinomas of breast with myoepithelial differentiation. PMID:18503832

  3. A comprehensive whole-genome integrated cytogenetic map for the alpaca (Lama pacos).

    PubMed

    Avila, Felipe; Baily, Malorie P; Perelman, Polina; Das, Pranab J; Pontius, Joan; Chowdhary, Renuka; Owens, Elaine; Johnson, Warren E; Merriwether, David A; Raudsepp, Terje

    2014-01-01

    Genome analysis of the alpaca (Lama pacos, LPA) has progressed slowly compared to other domestic species. Here, we report the development of the first comprehensive whole-genome integrated cytogenetic map for the alpaca using fluorescence in situ hybridization (FISH) and CHORI-246 BAC library clones. The map is comprised of 230 linearly ordered markers distributed among all 36 alpaca autosomes and the sex chromosomes. For the first time, markers were assigned to LPA14, 21, 22, 28, and 36. Additionally, 86 genes from 15 alpaca chromosomes were mapped in the dromedary camel (Camelus dromedarius, CDR), demonstrating exceptional synteny and linkage conservation between the 2 camelid genomes. Cytogenetic mapping of 191 protein-coding genes improved and refined the known Zoo-FISH homologies between camelids and humans: we discovered new homologous synteny blocks (HSBs) corresponding to HSA1-LPA/CDR11, HSA4-LPA/CDR31 and HSA7-LPA/CDR36, and revised the location of breakpoints for others. Overall, gene mapping was in good agreement with the Zoo-FISH and revealed remarkable evolutionary conservation of gene order within many human-camelid HSBs. Most importantly, 91 FISH-mapped markers effectively integrated the alpaca whole-genome sequence and the radiation hybrid maps with physical chromosomes, thus facilitating the improvement of the sequence assembly and the discovery of genes of biological importance. PMID:25662411

  4. Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

    PubMed Central

    Corrêa de Souza, Daiane; de Souza Fernandez, Cecília; Camargo, Adriana; Apa, Alexandre Gustavo; Sobral da Costa, Elaine; Abdelhay, Eliana; de Souza Fernandez, Teresa

    2014-01-01

    We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q)/−5, del(6q)/+6, del(7q)/−7, del(11q), and del(17p). Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients (P < 0,05). From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (−7, +8) and structural del(6q), del(7q), i(7q), t(7;9), i(9q), and del(11q) abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1) and group 2 (intermediate-2 and high risk), we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes (P < 0,0001), evolution of disease (P < 0,0001), and mortality (P < 0,001). In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up. PMID:25180186

  5. Cytogenetically Unrelated Clones in Acute Myeloid Leukemia Showing Different Responses to Chemotherapy

    PubMed Central

    Onozawa, Masahiro; Miyashita, Naohiro; Yokohata, Emi; Yoshida, Miho; Kanaya, Minoru; Kosugi-Kanaya, Mizuha; Takemura, Ryo; Takahashi, Shojiro; Sugita, Junichi; Shigematsu, Akio; Takahata, Mutsumi; Fujisawa, Shinichi; Hashimoto, Daigo; Fujimoto, Katsuya; Endo, Tomoyuki; Kondo, Takeshi; Teshima, Takanori

    2016-01-01

    We report a case of acute myeloid leukemia (AML) with two cytogenetically unrelated clones. The patient was a 45-year-old male who was diagnosed with acute monoblastic leukemia (AMoL). Initial G-band analysis showed 51,XY,+6,+8,inv(9)(p12q13)c,+11,+13,+19[12]/52,idem,+Y[8], but G-band analysis after induction therapy showed 45,XY,-7,inv(9)(p12q13)c[19]/46,XY,inv(9)(p12q13)c[1]. Retrospective FISH analysis revealed a cryptic monosomy 7 clone in the initial AML sample. The clone with multiple trisomies was eliminated after induction therapy and never recurred, but a clone with monosomy 7 was still detected in myelodysplastic marrow with a normal blast percentage. Both clones were successfully eliminated after related peripheral blood stem cell transplantation, but the patient died of relapsed AML with monosomy 7. We concluded that one clone was de novo AMoL with chromosome 6, 8, 11, 13, and 19 trisomy and that the other was acute myeloid leukemia with myelodysplasia-related changes(AML-MRC) with chromosome 7 monosomy showing different responses to chemotherapy. Simultaneous onset of cytogenetically unrelated hematological malignancies that each have a different disease status is a rare phenomenon but is important to diagnose for a correct understanding of the disease status and for establishing an appropriate treatment strategy. PMID:27034857

  6. Cytogenetic damage in lymphocytes of patients undergoing therapy for small cell lung cancer and ovarian carcinoma

    SciTech Connect

    Padjas, Anna; Lesisz, Dominika; Lankoff, Anna; Banasik, Anna; Lisowska, Halina; Bakalarz, Robert; Gozdz, Stanislaw; Wojcik, Andrzej . E-mail: awojcik@pu.kielce.pl

    2005-12-01

    The level of cytogenetic damage in peripheral blood lymphocytes of patients undergoing chemotherapy has been analyzed incisively 20 years ago. The results showed that the highest level of cytogenetic damage was observed at the end of therapy. In recent years, the doses of anticancer drugs were intensified thanks to the discovery of colony stimulating factors. Therefore, it was interesting to analyze the kinetics of micronuclei formation in lymphocytes of patients undergoing modern chemotherapy. The frequencies of micronuclei were measured in lymphocytes of 6 patients with small cell lung cancer treated with a combination of cisplatin and etoposide and 7 patients with ovarian carcinoma treated with a combination of taxol and cisplatin. 3 patients with lung cancer received radiotherapy in addition to chemotherapy. Micronuclei were analyzed in lymphocytes collected before the start of therapy and 1 day before each following cycle of chemotherapy. The micronucleus frequencies were compared with the kinetics of leukocyte counts. The micronucleus frequencies showed an interindividual variability. On average, the frequencies of micronuclei increased during the first half of therapy and declined thereafter, reaching, in some patients with ovarian carcinoma, values below the pre-treatment level. Leukocyte counts decreased strongly at the beginning of therapy with an upward trend at the end. We suggest that the decline of micronuclei was due to repopulation of lymphocytes and acquired drug resistance.

  7. Modified cIg-FISH protocol for multiple myeloma in routine cytogenetic laboratory practice.

    PubMed

    Gole, Leena; Lin, Adeline; Chua, Constance; Chng, Wee Joo

    2014-01-01

    The International Myeloma Working Group recommends that fluorescence in situ hybridization (FISH) be performed on specifically identified plasma cells (PC). This is because chromosomal abnormalities are not frequently detected by traditional karyotyping due to the low proliferative rate of PC in multiple myeloma (MM). Conventional FISH enhances the sensitivity but lacks the specificity, as it does not distinguish PC from other hematopoetic cells. To fulfill this recommendation, PC need to be selected either by flow cytometry or immunomagnetic bead-based PC sorting or by concomitant labeling of the cytoplasmic immunoglobulin light chain, which allows for unambiguous identification. These techniques require expertise, time, and funding and are not easily incorporated into the routine workflow of the cytogenetic laboratory. We have modified and refined the technique using fixed cell pellets to achieve nicely separated and easily identifiable PC. With immunostaining and subsequent FISH (i.e., cytoplasmic immunoglobulin FISH, cIg-FISH), this technique can be easily incorporated into every cytogenetic laboratory. Twenty samples from patients with MM were subjected to routine FISH, cIg-FISH, and chromosomal karyotyping and the results were compared. Three FISH probes, which enabled detection of the t(4;14), t(14;16) and deletion of TP53, were used to validate this modified technique successfully. PMID:24485403

  8. Cytogenetic analysis of Aegilops chromosomes, potentially usable in triticale (X Triticosecale Witt.) breeding.

    PubMed

    Kwiatek, M; Wiśniewska, H; Apolinarska, B

    2013-05-01

    Chromosome identification using fluorescence in situ hybridization (FISH) is widely used in cytogenetic research. It is a diagnostic tool helpful in chromosome identification. It can also be used to characterize alien introgressions, when exercised in a combination with genomic in situ hybridization (GISH). This work aims to find chromosome identification of Aegilops species and Aegilops × Secale amphiploids, which can be used in cereal breeding as a source of favourable agronomic traits. Four diploid and two tetraploid Aegilops species and three Aegilops × Secale hybrids were analysed using FISH with pSc119.2, pAs1, 5S rDNA and 25S rDNA clones to differentiate the U-, M-, S(sh)- and D-subgenome chromosomes of Aegilops genus. Additionally, GISH for chromosome categorization was carried out. Differences in the hybridization patterns allowed to identify all U-, M-, S(sh)- and D-subgenome chromosomes. Some differences in localization of the rDNA, pSc119.2 and pAs1 sequences between analogue subgenomes in diploid and tetraploid species and Aegilops × Secale hybrids were detected. The hybridization pattern of the M and S genome was more variable than that of the U and D genome. An importance of the cytogenetic markers in plant breeding and their possible role in chromosome structure, function and evolution is discussed. PMID:23378244

  9. Cytogenetic characterization of low-dose hyper-radiosensitivity in Cobalt-60 irradiated human lymphoblastoid cells.

    PubMed

    Joshi, Gnanada S; Joiner, Michael C; Tucker, James D

    2014-12-01

    The dose-effect relationships of cells exposed to ionizing radiation are frequently described by linear quadratic (LQ) models over an extended dose range. However, many mammalian cell lines, when acutely irradiated in G2 at doses ≤0.3Gy, show hyper-radiosensitivity (HRS) as measured by reduced clonogenic cell survival, thereby indicating greater cell lethality than is predicted by extrapolation from high-dose responses. We therefore hypothesized that the cytogenetic response in G2 cells to low doses would also be steeper than predicted by LQ extrapolation from high doses. We tested our hypothesis by exposing four normal human lymphoblastoid cell lines to 0-400cGy of Cobalt-60 gamma radiation. The cytokinesis block micronucleus assay was used to determine the frequencies of micronuclei and nucleoplasmic bridges. To characterize the dependence of the cytogenetic damage on dose, univariate and multivariate regression analyses were used to compare the responses in the low- (HRS) and high-dose response regions. Our data indicate that the slope of the response for all four cell lines at ≤20cGy during G2 is greater than predicted by an LQ extrapolation from the high-dose responses for both micronuclei and bridges. These results suggest that the biological consequences of low-dose exposures could be underestimated and may not provide accurate risk assessments following such exposures. PMID:25771872

  10. ASXL1 and DNMT3A mutation in a cytogenetically normal B3 thymoma.

    PubMed

    Belani, R; Oliveira, G; Erikson, G A; Ra, S; Schechter, M S; Lee, J K; Shipman, W J; Haaser, S M; Torkamani, A

    2014-01-01

    The molecular drivers of thymoma are poorly understood. Outside of the identification of rarely occurring epidermal growth factor receptor and v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog mutations via candidate gene sequencing, mutations in common cancer genes have yet to be observed. Only a single thymoma genome sequence has been previously reported, with no mutations in known cancer genes identified. Thus, we attempted to identify somatic driver mutations in a cytogenetically normal thymoma. A stage IVB type B3 thymoma from a 47-year-old male of Asian descent with no history of myasthenia gravis or other autoimmune condition was genomically evaluated. Exome sequencing and low-pass whole-genome sequencing was performed to identify somatic point mutations, copy number changes and structural variants. Mutations in known tumor suppressors DNMT3A (p.G728D) and ASXL1 (p.E657fs), consistent with mutations of known consequence in acute myeloid leukemia, were identified. Contrary to a previous report, this finding suggests the genetic etiology of thymomas may not be fundamentally distinct from other tumor types. Rather, these findings suggest that further sequencing of cytogenetically normal thymoma samples should reveal the specific molecular drivers of thymoma. PMID:25000259

  11. Cytogenetic and Molecular Genetic Characterization of Children with Short Stature

    PubMed Central

    HOVNIK, Tinka; ŠMIGOC SCHWEIGER, Darja; KOTNIK, Primož; KOVAČ, Jernej; BATTELINO, Tadej; TREBUŠAK PODKRAJŠEK, Katarina

    2015-01-01

    Background The deficiency of SHOX gene (short stature homeobox-containing gene) has been recognized as the most frequent monogenetic cause of short stature. SHOX gene has been associated with short stature in Turner syndrome and Leri Weill dyschondrosteosis as well with non-syndromic idiopathic short stature. The aim of this study was to determine the frequency of SHOX deletions and mutations in a cohort of Slovenian children with short stature, and to delineate indications for routine SHOX gene mutation screening. Methods and results 40 selected subjects with idiopathic short stature were screened for entire SHOX gene deletion and for mutations in the SHOX gene coding region (exon 2 to 6), together with sequences flanking the exon-intron boundaries. FISH analysis on metaphase and interphase spreads revealed no entire gene deletion. Additionally, no pathogenic point mutations or smaller deletion/duplications were identified in this study group. Conclusions SHOX gene deletions and point mutations are not a common cause of idiopathic short stature in a cohort of Slovenian children with short stature. Therefore, the frequency of SHOX mutations must be much lower as expected based on the reported data.

  12. [Cytogenetic effect of temperature on the sunflower varieties].

    PubMed

    Mashkina, E V; Gus'kov, E P

    2002-01-01

    The influence of increased temperature on the intensity of fission and level of chromosome aberrations (ChA) in root meristeme cells of two lines of sunflower seedlings was studied. Within the first hour of seed germination, the temperature of 40 degrees C reduced proliferation activity of root meristeme cells line 3629 for almost the next 15 h of growth. Heat stress (HS) blocks the beginning of cell fission in the plastome mutant en-chlorina-5. However, subsequent by mitosis activity was seen to increase. The influence of HS on the ChA level is ambiguous: the effect depends on the duration of warm-up influence and the used sunflower lines. So, ChA level does not change inbred line 3629 even after 6 h HS. In mutant en-chlorina-5 the ChA level increases after 1 h HS and decreases after 3 and 6 h HS. The study of HS modification effect has shown that preliminary warm-up influence (40 degrees C for 1 h) reduces differences in reactions of cells 3629 of line on the action of different nitrosomethylurea (NMU) concentrations. Preliminary warm-up influence does not change sensitivity of en-chlorina-5 cells to NMU. The combined action of the increased temperature and NMU induce a powerful cytostatic effect. PMID:12683334

  13. Cytogenetic Features of Human Head and Body Lice (Phthiraptera: Pediculidae).

    PubMed

    Bressa, María José; Papeschi, Alba Graciela; Toloza, Ariel Ceferino

    2015-09-01

    The genus Pediculus L. that parasitize humans comprise two subspecies: the head lice Pediculus humanus capitis De Geer and the body lice Pediculus humanus humanus De Geer. Despite the 200 yr of the first description of these two species, there is still a long debate about their taxonomic status. Some authors proposed that these organisms are separate species, conspecifics, or grouped in clades. The sequencing of both forms indicated that the difference between them is one gene absent in the head louse. However, their chromosomal number remains to be determined. In this study, we described the male and female karyotypes, and male meiosis of head and body lice, and examined the chromatin structure by means of C-banding. In P. h. humanus and P. h. capitis, the diploid chromosome complement was 2 n = 12 in both sexes. In oogonial prometaphase and metaphase and spermatogonial metaphase, it is evident that chromosomes lack of a primary constriction. No identifiable sex chromosomes or B chromosomes were observed in head and body lice. Neither chiasmata nor chromatin connections between homologous chromosomes were detected in male meiosis. The meiotic behaviour of the chromosomes showed that they are holokinetic. C-banding revealed the absence of constitutive heterochromatin. Our results provide relevant information to be used in mapping studies of genes associated with sex determination and environmental sensing and response. PMID:26336229

  14. In vivo cytogenetic effects of natural humic acid.

    PubMed

    Bernacchi, F; Ponzanelli, I; Minunni, M; Falezza, A; Loprieno, N; Barale, R

    1996-09-01

    As humic compounds are naturally widespread in the environment and present in surface water, studies on their genotoxicity are justified. Humic acid (HA) has not been demonstrated to be genotoxic either in vitro or in vivo. In the present paper we investigated its activity both in intestinal and bone marrow cells following a single dose (100 mg/kg b.w. corresponding to 0.5 ml per animal of an aqueous solution of 4 g/l) of HA administered to mice by gastric intubation, to mimic the most likely route of human exposure. HA induced structural and, in particular, numerical chromosome abnormalities in intestinal cells. A marginal, non-significant induction of aneuploidy was also found in bone marrow cells. PMID:8921508

  15. Predictive cytogenetic biomarkers for colorectal neoplasia in medium risk patients

    PubMed Central

    Ionescu, EM; Nicolaie, T; Ionescu, MA; Becheanu, G; Andrei, F; Diculescu, M; Ciocirlan, M

    2015-01-01

    Rationale: DNA damage and chromosomal alterations in peripheral lymphocytes parallels DNA mutations in tumor tissues. Objective: The aim of our study was to predict the presence of neoplastic colorectal lesions by specific biomarkers in “medium risk” individuals (age 50 to 75, with no personal or family of any colorectal neoplasia). Methods and Results: We designed a prospective cohort observational study including patients undergoing diagnostic or opportunistic screening colonoscopy. Specific biomarkers were analyzed for each patient in peripheral lymphocytes - presence of micronuclei (MN), nucleoplasmic bridges (NPB) and the Nuclear Division Index (NDI) by the cytokinesis-blocked micronucleus assay (CBMN). Of 98 patients included, 57 were “medium risk” individuals. MN frequency and NPB presence were not significantly different in patients with neoplastic lesions compared to controls. In “medium risk” individuals, mean NDI was significantly lower for patients with any neoplastic lesions (adenomas and adenocarcinomas, AUROC 0.668, p 00.5), for patients with advanced neoplasia (advanced adenoma and adenocarcinoma, AUROC 0.636 p 0.029) as well as for patients with adenocarcinoma (AUROC 0.650, p 0.048), for each comparison with the rest of the population. For a cut-off of 1.8, in “medium risk” individuals, an NDI inferior to that value may predict any neoplastic lesion with a sensitivity of 97.7%, an advanced neoplastic lesion with a sensitivity of 97% and adenocarcinoma with a sensitivity of 94.4%. Discussion: NDI score may have a role as a colorectal cancer-screening test in “medium risk” individuals. Abbreviations: DNA = deoxyribonucleic acid; CRC = colorectal cancer; EU = European Union; WHO = World Health Organization; FOBT = fecal occult blood test; CBMN = cytokinesis-blocked micronucleus assay; MN = micronuclei; NPB = nucleoplasmic bridges; NDI = Nuclear Division Index; FAP = familial adenomatous polyposis; HNPCC = hereditary non

  16. Molecular cytogenetic dissection of human chromosomes 3 and 21 evolution

    PubMed Central

    Müller, S.; Stanyon, R.; Finelli, P.; Archidiacono, N.; Wienberg, J.

    2000-01-01

    Chromosome painting in placental mammalians illustrates that genome evolution is marked by chromosomal synteny conservation and that the association of chromosomes 3 and 21 may be the largest widely conserved syntenic block known for mammals. We studied intrachromosomal rearrangements of the syntenic block 3/21 by using probes derived from chromosomal subregions with a resolution of up to 10–15 Mbp. We demonstrate that the rearrangements visualized by chromosome painting, mostly translocations, are only a fraction of the actual chromosomal changes that have occurred during evolution. The ancestral segment order for both primates and carnivores is still found in some species in both orders. From the ancestral primate/carnivore condition an inversion is needed to derive the pig homolog, and a fission of chromosome 21 and a pericentric inversion is needed to derive the Bornean orangutan condition. Two overlapping inversions in the chromosome 3 homolog then would lead to the chromosome form found in humans and African apes. This reconstruction of the origin of human chromosome 3 contrasts with the generally accepted scenario derived from chromosome banding in which it was proposed that only one pericentric inversion was needed. From the ancestral form for Old World primates (now found in the Bornean orangutan) a pericentric inversion and centromere shift leads to the chromosome ancestral for all Old World monkeys. Intrachromosomal rearrangements, as shown here, make up a set of potentially plentiful and informative markers that can be used for phylogenetic reconstruction and a more refined comparative mapping of the genome. PMID:10618396

  17. Cytogenetic effects of methyl isocyanate exposure in Bhopal.

    PubMed

    Goswami, H K

    1986-09-01

    Among human survivors following the methyl isocyanate (MIC) gas tragedy the major complaints have been related to deep-seated suffocation, terrible pain in breathing, and severe ocular irritations. In order to assess the possible genetic effects we have used lymphocyte cultures and screened chromosomes by two techniques; one by looking for chromosomal aberrations and the other by estimating sister-chromatid exchange (SCE) frequencies. Both these parameters are good indicators of genetic damage in chromosomal DNA. SCE frequencies in lymphocytes have been increased more than three times in MIC-exposed persons. The results were compared to two groups of controls (one group comprising persons present in the same house; the second group of persons were chosen from distant places, 20-50 km away from the incident). Chromosomal breaks have been observed in 10 out of 14 MIC-affected people (71.4%) studied while only 6 out of 28 (21.4%) controls had chromosomal breaks. Some MIC-exposed persons had chromatin bodies in addition to the normal 46 chromosomes. These observations suggest that chromosomal DNA has been damaged. PMID:3759088

  18. Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications

    SciTech Connect

    Leana-Cox, J. ); Jenkins, L. ); Palmer, C.G.; Plattner, R. ); Sheppard, L. ); Flejter, W.L. ); Zackowski, J. ); Tsien, F. ); Schwartz, S. )

    1994-05-01

    Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P<.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype. 30 refs., 1 fig., 4 tabs.

  19. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

    SciTech Connect

    Guo, Wen-Jun; Callif-Daley, F.; Zapata, M.C.; Miller, M.E.

    1995-09-11

    We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2-p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3-pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qter{r_arrow} p23.1::p23.1{r_arrow}p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion. 20 refs., 4 figs., 2 tabs.

  20. Molecular and Cytogenetic Characterization of Wild Musa Species

    PubMed Central

    Čížková, Jana; Hřibová, Eva; Christelová, Pavla; Van den Houwe, Ines; Häkkinen, Markku; Roux, Nicolas; Swennen, Rony; Doležel, Jaroslav

    2015-01-01

    The production of bananas is threatened by rapid spreading of various diseases and adverse environmental conditions. The preservation and characterization of banana diversity is essential for the purposes of crop improvement. The world's largest banana germplasm collection maintained at the Bioversity International Transit Centre (ITC) in Belgium is continuously expanded by new accessions of edible cultivars and wild species. Detailed morphological and molecular characterization of the accessions is necessary for efficient management of the collection and utilization of banana diversity. In this work, nuclear DNA content and genomic distribution of 45S and 5S rDNA were examined in 21 diploid accessions recently added to ITC collection, representing both sections of the genus Musa. 2C DNA content in the section Musa ranged from 1.217 to 1.315 pg. Species belonging to section Callimusa had 2C DNA contents ranging from 1.390 to 1.772 pg. While the number of 45S rDNA loci was conserved in the section Musa, it was highly variable in Callimusa species. 5S rRNA gene clusters were found on two to eight chromosomes per diploid cell. The accessions were genotyped using a set of 19 microsatellite markers to establish their relationships with the remaining accessions held at ITC. Genetic diversity done by SSR genotyping platform was extended by phylogenetic analysis of ITS region. ITS sequence data supported the clustering obtained by SSR analysis for most of the accessions. High level of nucleotide diversity and presence of more than two types of ITS sequences in eight wild diploids pointed to their origin by hybridization of different genotypes. This study significantly expands the number of wild Musa species where nuclear genome size and genomic distribution of rDNA loci is known. SSR genotyping identified Musa species that are closely related to the previously characterized accessions and provided data to aid in their classification. Sequence analysis of ITS region

  1. A MOLECULAR CYTOGENETICS MAP OF SORGHUM CHROMOSOME 1: FLUORESCENCE IN SITU HYBRIDIZATION ANALYSIS WITH MAPPED BACTERIAL ARTIFICIAL CHROMOSOMES

    Technology Transfer Automated Retrieval System (TEKTRAN)

    We used structural genomic resources for sorghum to target and develop multiple molecular cytogenetic probes that would provide extensive coverage for a specific chromosome of sorghum. Bacterial artificial chromosome clones containing molecular markers mapped across sorghum linkage group A were labe...

  2. Molecular cytogenetic characterization of alien introgressions with gene Fhb3 for resistance to Fusarium head blight disease of wheat

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fusarium head blight (FHB) resistance was identified in the alien species Leymus racemosus, and wheat-Leymus introgression lines with FHB resistance were reported previously. Detailed molecular cytogenetic analysis of alien introgressions T01, T09, and T14 and the mapping of Fhb3, a new gene for FHB...

  3. Rare Cytogenetic Abnormalities and Alteration of microRNAs in Acute Myeloid Leukemia and Response to Therapy

    PubMed Central

    Shahjahani, Mohammad; Khodadi, Elahe; Seghatoleslami, Mohammad; Asl, Javad Mohammadi; Golchin, Neda; Zaieri, Zeynab Deris

    2015-01-01

    Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is heterogeneous in terms of morphological, cytogenetic and clinical features. Cytogenetic abnormalities, including karyotype aberrations, gene mutations and gene expression abnormalities are the most important diagnostic tools in diagnosis, classification and prognosis in acute myeloid leukemias. Based on World Health Organization (WHO) classification, acute myeloid leukemias can be divided to four groups. Due to the heterogeneous nature of AML and since most therapeutic protocols in AML are based on genetic alterations, gathering further information in the field of rare disorders as well as common cytogenetic abnormalities would be helpful in determining the prognosis and treatment in this group of diseases. Recently, the role of microRNAs (miRNAs) in both normal hematopoiesis and myeloid leukemic cell differentiation in myeloid lineage has been specified. miRNAs can be used instead of genes for AML diagnosis and classification in the future, and can also play a decisive role in the evaluation of relapse as well as response to treatment in the patients. Therefore, their use in clinical trials can affect treatment protocols and play a role in therapeutic strategies for these patients. In this review, we have examined rare cytogenetic abnormalities in different groups of acute myeloid leukemias according to WHO classification, and the role of miRNA expression in classification, diagnosis and response to treatment of these disorders has also been dealt with. PMID:26779308

  4. Cytogenetic damage in Turkish coke oven workers exposed to polycyclic aromatic hydrocarbons: Association with CYP1A1, CYP1B1, EPHX1, GSTM1, GSTT1, and GSTP1 gene polymorphisms.

    PubMed

    Ada, Ahmet Oguz; Demiroglu, Canan; Yilmazer, Meltem; Suzen, Halit Sinan; Demirbag, Ali Eba; Efe, Sibel; Alemdar, Yilmaz; Iscan, Mumtaz; Burgaz, Sema

    2013-09-01

    The aim of this study was to determine the frequencies of chromosomal aberrations (CA) and cytochalasin-blocked micronuclei (CBMN) in peripheral blood lymphocytes from Turkish coke oven workers and the influence of CYP1A1, CYP1B1, EPHX1, GSTM1, GSTT1, and GSTP1 gene polymorphisms on these biomarkers. Cytogenetic analysis showed that occupational exposure significantly increased the CA and CBMN frequencies. Gene polymorphisms, on the other hand, did not affect CA or CBMN in either exposed or control subjects. However, due to the limited sample size, our findings need to be verified in future studies with a larger sample. PMID:24084344

  5. Comparative molecular cytogenetic analyses of a major tandemly repeated DNA family and retrotransposon sequences in cultivated jute Corchorus species (Malvaceae)

    PubMed Central

    Begum, Rabeya; Zakrzewski, Falk; Menzel, Gerhard; Weber, Beatrice; Alam, Sheikh Shamimul; Schmidt, Thomas

    2013-01-01

    Background and Aims The cultivated jute species Corchorus olitorius and Corchorus capsularis are important fibre crops. The analysis of repetitive DNA sequences, comprising a major part of plant genomes, has not been carried out in jute but is useful to investigate the long-range organization of chromosomes. The aim of this study was the identification of repetitive DNA sequences to facilitate comparative molecular and cytogenetic studies of two jute cultivars and to develop a fluorescent in situ hybridization (FISH) karyotype for chromosome identification. Methods A plasmid library was generated from C. olitorius and C. capsularis with genomic restriction fragments of 100–500 bp, which was complemented by targeted cloning of satellite DNA by PCR. The diversity of the repetitive DNA families was analysed comparatively. The genomic abundance and chromosomal localization of different repeat classes were investigated by Southern analysis and FISH, respectively. The cytosine methylation of satellite arrays was studied by immunolabelling. Key Results Major satellite repeats and retrotransposons have been identified from C. olitorius and C. capsularis. The satellite family CoSat I forms two undermethylated species-specific subfamilies, while the long terminal repeat (LTR) retrotransposons CoRetro I and CoRetro II show similarity to the Metaviridea of plant retroelements. FISH karyotypes were developed by multicolour FISH using these repetitive DNA sequences in combination with 5S and 18S–5·8S–25S rRNA genes which enable the unequivocal chromosome discrimination in both jute species. Conclusions The analysis of the structure and diversity of the repeated DNA is crucial for genome sequence annotation. The reference karyotypes will be useful for breeding of jute and provide the basis for karyotyping homeologous chromosomes of wild jute species to reveal the genetic and evolutionary relationship between cultivated and wild Corchorus species. PMID:23666888

  6. Cytogenetic characterization and B chromosome diversity in direct-developing frogs of the genus Oreobates (Brachycephaloidea, Craugastoridae)

    PubMed Central

    Ferro, Juan Martín; Taffarel, Alberto; Cardozo, Darío; Grosso, Jimena; Puig, María Pía; Suárez, Pablo; Akmentins, Mauricio Sebastián; Baldo, Diego

    2016-01-01

    Abstract Oreobates Jiménez de la Espada, 1872 is a large group of South American frogs with terrestrial reproduction and direct development, located in the superfamily Brachycephaloidea. About 260 brachycephaloidean species have been cytogenetically studied so far, at least with standard techniques. However, this information represents fewer than 17% species of the family Craugastoridae Hedges, Duellman & Heinicke, 2008, where the genus Oreobates is included. In the present work, using a diversity of standard and molecular techniques, we describe the karyotype of Oreobates barituensis Vaira & Ferrari, 2008, Oreobates berdemenos Pereyra, Cardozo, Baldo & Baldo, 2014 and Oreobates discoidalis (Peracca, 1895), from northwestern Argentina. The three species analyzed showed a diploid karyotype with 2n = 22 biarmed chromosomes, fundamental number (FN) = 44, nucleolus organizer regions (NORs) located pericentromerically on pair 7, and a centromeric and pericentromeric C-banding pattern. We observed variations in the chromosome number in Oreobates barituensis due the presence of two morphs of B chromosomes, one medium-sized telocentric (BT) and another subtelocentric and smaller (Bst). Both B chromosomes are mitotically stable and were recorded in all somatic and germinal cells analyzed. The BT chromosome occurred at a maximum of one per individual (2n = 22+BT), and the other one was observed single (2n = 22 + Bst) or as a pair in two doses (2n = 22 + 2BT). We additionally observed other supernumerary chromosomes in the three species analyzed, all of them euchromatic, small, dot-shaped and with instability during mitoses, showing a frequency of occurrence below 50% in studied specimens. The occurrence of polymorphic and spontaneous chromosomal rearrangements and supernumerary chromosomes is a recurrent feature reported in frogs with terrestrial habits (Brachycephaloidea and Hemiphractidae Peters, 1862), which suggests that Brachycephaloidea may be a promising group for

  7. Cytogenetics Does Not Impact Outcomes in Adult Patients with Acute Lymphoblastic Leukemia Undergoing Allogeneic Hematopoietic Cell Transplantation.

    PubMed

    Aldoss, Ibrahim; Tsai, Ni-Chun; Slovak, Marilyn L; Palmer, Joycelynne; Alvarnas, Joseph; Marcucci, Guido; Forman, Stephen J; Pullarkat, Vinod

    2016-07-01

    The prognostic relevance of cytogenetics at diagnosis on the outcome of allogeneic hematopoietic stem cell transplantation (alloHCT) for adult acute lymphoblastic leukemia (ALL) remains unclear. We retrospectively analyzed outcomes of 333 adult ALL patients who underwent alloHCT at our institution over a 10-year period. Patients were classified according to disease status at transplantation (complete response [CR] 1 [n = 202] or > CR1) and according to cytogenetic risk, defined as good (2%), intermediate (42%), poor (46%), or unknown (10%) based on available outcome data for each of the cytogenetic abnormalities. Three-year overall survival (OS), leukemia-free survival (LFS), and relapse incidence (RI) were 55.7%, 47.9% and 27.5%, respectively; 1-year nonrelapse mortality (NRM) was 17.3%. For patients undergoing alloHCT in CR1, 3-year OS, LFS, and RI were 69.8%, 62.3%, and 17.1%, respectively. In multivariable analysis, cytogenetic risk did not impact OS or LFS for the whole cohort or for patients who underwent transplantation in CR1. Disease status at alloHCT was an independent predictor for LFS (CR1 versus others: hazard ratio [HR], 3.17; P < .01) and OS (CR1 versus others: HR, 2.90; P < .01). Graft-versus-host disease prophylaxis with tacrolimus/sirolimus was associated with a low NRM of 11.5% in the alloHCT recipients in CR1. Our data indicate that cytogenetic risk is not an independent predictor of outcomes in alloHCT performed to treat adult ALL. PMID:27044907

  8. FLT3 and NPM1 mutations in Chinese patients with acute myeloid leukemia and normal cytogenetics.

    PubMed

    Wang, Lei; Xu, Wei-lai; Meng, Hai-tao; Qian, Wen-bin; Mai, Wen-yuan; Tong, Hong-yan; Mao, Li-ping; Tong, Yin; Qian, Jie-jing; Lou, Yin-jun; Chen, Zhi-mei; Wang, Yun-gui; Jin, Jie

    2010-10-01

    Mutations of fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) exon 12 genes are the most common abnormalities in adult acute myeloid leukemia (AML) with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction (PCR) and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication (FLT3/ITD) and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 (19.7%) of 76 subjects, and NPM1 mutation in 20 (26.3%) subjects. Seven (9.2%) cases were positive for both FLT3/ITD and NPM1 mutations. Significantly more FLT3/ITD aberration was detected in subjects with French-American-British (FAB) M1 (42.8%). NPM1 mutation was frequently detected in subjects with M5 (47.1%) and infrequently in subjects with M2 (11.1%). FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD-positive group had a lower complete remission (CR) rate (53.3% vs. 83.6%). Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival (OS) and relapse-free survival (RFS). The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group (P=0.069). Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD. PMID:20872983

  9. FLT3 and NPM1 mutations in Chinese patients with acute myeloid leukemia and normal cytogenetics

    PubMed Central

    Wang, Lei; Xu, Wei-lai; Meng, Hai-tao; Qian, Wen-bin; Mai, Wen-yuan; Tong, Hong-yan; Mao, Li-ping; Tong, Yin; Qian, Jie-jing; Lou, Yin-jun; Chen, Zhi-mei; Wang, Yun-gui; Jin, Jie

    2010-01-01

    Mutations of fms-like tyrosine kinase 3 (FLT3) and nucleophosmin (NPM1) exon 12 genes are the most common abnormalities in adult acute myeloid leukemia (AML) with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction (PCR) and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication (FLT3/ITD) and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 (19.7%) of 76 subjects, and NPM1 mutation in 20 (26.3%) subjects. Seven (9.2%) cases were positive for both FLT3/ITD and NPM1 mutations. Significantly more FLT3/ITD aberration was detected in subjects with French-American-British (FAB) M1 (42.8%). NPM1 mutation was frequently detected in subjects with M5 (47.1%) and infrequently in subjects with M2 (11.1%). FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD-positive group had a lower complete remission (CR) rate (53.3% vs. 83.6%). Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival (OS) and relapse-free survival (RFS). The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group (P=0.069). Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD. PMID:20872983

  10. Influence of heavy ions on cell survival, cytogenetic damage and mitochondrial function of human endothelial cells

    NASA Astrophysics Data System (ADS)

    Ritter, Sylvia; Helm, Alexander; Lee, Ryonfa; Pollet, Dieter; Durante, Marco

    There is increasing evidence that there is an elevated risk of cardiovascular disease among atomic bomb survivors and radiotherapy patients, typically developing with a long latency. However, essentially no information is available on the potential cardiovascular risks associated with space radiation, in particular heavy ions. To address this issue, we have chosen human umbilical vein endothelial cells (HUVEC) as a model system. Cells at an early passage number were irradiated with 0.1 to 4 Gy of either 9.8 MeV/u C-ions (LET=170 keV/µm), 91 MeV/u C-ions (LET=29 keV/µm) or 250 kV X-rays. Cells were regularly subcultured up to 40 days (20 population doublings) post-irradiation. Immediately after exposure cell inactivation was deter-mined by the colony forming assay. Furthermore, at selected time-points cytogenetic damage (formation of micronuclei in binucleated cells) and the mitochondrial membrane potential ΨM (flow cytometric analysis following JC-1 staining) were assessed. Measurement of the directly induced radiation damage showed that 9.8 MeV/u and 91 MeV/u C-ions were more effective than X-rays (i.e. about 3 and 2 times, respectively) with respect to cell inactivation or the in-duction of cytogenetic damage. At the subsequent days in the irradiated cultures the number of cells with micronuclei declined to the control level (3-5Altogether our data indicate that under the applied radiation conditions the integrity of mitochondria which play a significant role in the regulation of cardiovascular cell function is not impaired. With respect to directly induced genetic damage C-ions are more effective than X-rays as observed in other cell systems. If the effectiveness of charged particles for the occurrence of late chromosomal damage in endothelial cells is higher than that of sparsely ionizing radiation needs further clarification. The data obtained up to now indicate that sophisticated cytogenetic techniques have to be applied in order to draw any firm

  11. Cytogenetic and dosimetric effects of (131)I in patients with differentiated thyroid carcinoma: comparison between stimulation with rhTSH and thyroid hormone withdrawal treatments.

    PubMed

    da Silva, Márcia Augusta; Valgôde, Flávia Gomes Silva; Gonzalez, Júlia Armiliato; Yoriyaz, Hélio; Guimarães, Maria Inês Calil Cury; Ribela, Maria Teresa Carvalho Pinto; Buchpiguel, Carlos Alberto; Bartolini, Paolo; Okazaki, Kayo

    2016-08-01

    A study directed to the cytogenetic and dosimetric aspects of radionuclides of medical interest is very valuable, both for an accurate evaluation of the dose received by the patients, and consequently of the genetic damage, and for the optimization of therapeutic strategies. Cytogenetic and dosimetric effects of (131)I in lymphocytes of thyroidectomized differentiated thyroid cancer (DTC) patients were evaluated through chromosome aberration (CA) technique: Euthyroid patients submitted to recombinant human thyroid-stimulating hormone (rhTSH) therapy (group A) were compared with hypothyroid patients left without levothyroxine treatment (group B). CA analysis was carried out prior to and 24 h, 1 week, 1 month and 1 year after radioiodine administration (4995-7030 MBq) in both groups. An activity-response curve of (131)I (0.074-0.740 MBq/mL) was elaborated, comparing dicentric chromosomes in vivo and in vitro in order to estimate the absorbed dose through Monte Carlo simulations. In general, radioiodine therapy induced a higher total CA rate in hypothyroid patients as compared to euthyroid patients. The frequencies of dicentrics obtained in DTC patients 24 h after treatment were equivalent to those induced in vitro (0.2903 ± 0.1005 MBq/mL in group A and 0.2391 ± 0.1019 MBq/mL in group B), corresponding to absorbed doses of 0.65 ± 0.23 Gy and 0.53 ± 0.23 Gy, respectively. The effect on lymphocytes of internal radiation induced by (131)I therapy is minimal when based on the frequencies of CA 1 year after the treatment, maintaining a higher quality of life for DTC patients receiving rhTSH-aided therapy. PMID:27013085

  12. Helicase-like transcription factor is a RUNX1 target whose downregulation promotes genomic instability and correlates with complex cytogenetic features in acute myeloid leukemia.

    PubMed

    Cheng, Chi Keung; Chan, Natalie P H; Wan, Thomas S K; Lam, Lai Ying; Cheung, Coty H Y; Wong, Terry H Y; Ip, Rosalina K L; Wong, Raymond S M; Ng, Margaret H L

    2016-04-01

    Helicase-like transcription factor is a SWI/SNF chromatin remodeling factor involved in various biological processes. However, little is known about its role in hematopoiesis. In this study, we measured helicase-like transcription factor mRNA expression in the bone marrow of 204 adult patients withde novoacute myeloid leukemia. Patients were dichotomized into low and high expression groups at the median level for clinicopathological correlations. Helicase-like transcription factor levels were dramatically reduced in the low expression patient group compared to those in the normal controls (n=40) (P<0.0001). Low helicase-like transcription factor expression correlated positively with French-American-British M4/M5 subtypes (P<0.0001) and complex cytogenetic abnormalities (P=0.02 for ≥3 abnormalities;P=0.004 for ≥5 abnormalities) but negatively with CEBPA double mutations (P=0.012). Also, low expression correlated with poorer overall (P=0.005) and event-free (P=0.006) survival in the intermediate-risk cytogenetic subgroup. Consistent with the more aggressive disease associated with low expression, helicase-like transcription factor knockdown in leukemic cells promoted proliferation and chromosomal instability that was accompanied by downregulation of mitotic regulators and impaired DNA damage response. The significance of helicase-like transcription factor in genome maintenance was further indicated by its markedly elevated expression in normal human CD34(+)hematopoietic stem cells. We further demonstrated that helicase-like transcription factor was a RUNX1 target and transcriptionally repressed by RUNX1-ETO and site-specific DNA methylation through a duplicated RUNX1 binding site in its promoter. Taken together, our findings provide new mechanistic insights on genomic instability linked to helicase-like transcription factor deregulation, and strongly suggest a tumor suppressor function of the SWI/SNF protein in acute myeloid leukemia. PMID:26802049

  13. Cytogenetic and symbiont analysis of five members of the B. dorsalis complex (Diptera, Tephritidae): no evidence of chromosomal or symbiont-based speciation events.

    PubMed

    Augustinos, Antonios A; Drosopoulou, Elena; Gariou-Papalexiou, Aggeliki; Asimakis, Elias D; Cáceres, Carlos; Tsiamis, George; Bourtzis, Kostas; Penelope Mavragani-Tsipidou; Zacharopoulou, Antigone

    2015-01-01

    The Bactrocera dorsalis species complex, currently comprising about 90 entities has received much attention. During the last decades, considerable effort has been devoted to delimiting the species of the complex. This information is of great importance for agriculture and world trade, since the complex harbours several pest species of major economic importance and other species that could evolve into global threats. Speciation in Diptera is usually accompanied by chromosomal rearrangements, particularly inversions that are assumed to reduce/eliminate gene flow. Other candidates currently receiving much attention regarding their possible involvement in speciation are reproductive symbionts, such as Wolbachia, Spiroplasma, Arsenophonus, Rickettsia and Cardinium. Such symbionts tend to spread quickly through natural populations and can cause a variety of phenotypes that promote pre-mating and/or post-mating isolation and, in addition, can affect the biology, physiology, ecology and evolution of their insect hosts in various ways. Considering all these aspects, we present: (a) a summary of the recently gained knowledge on the cytogenetics of five members of the Bactrocera dorsalis complex, namely Bactrocera dorsalis s.s., Bactrocera invadens, Bactrocera philippinensis, Bactrocera papayae and Bactrocera carambolae, supplemented by additional data from a Bactrocera dorsalis s.s. colony from China, as well as by a cytogenetic comparison between the dorsalis complex and the genetically close species, Bactrocera tryoni, and, (b) a reproductive symbiont screening of 18 different colonized populations of these five taxa. Our analysis did not reveal any chromosomal rearrangements that could differentiate among them. Moreover, screening for reproductive symbionts was negative for all colonies derived from different geographic origins and/or hosts. There are many different factors that can lead to speciation, and our data do not support chromosomal and/or symbiotic

  14. Cytogenetic and symbiont analysis of five members of the B. dorsalis complex (Diptera, Tephritidae): no evidence of chromosomal or symbiont-based speciation events

    PubMed Central

    Augustinos, Antonios A.; Drosopoulou, Elena; Gariou-Papalexiou, Aggeliki; Asimakis, Elias D.; Cáceres, Carlos; Tsiamis, George; Bourtzis, Kostas; Penelope Mavragani-Tsipidou; Zacharopoulou, Antigone

    2015-01-01

    Abstract The Bactrocera dorsalis species complex, currently comprising about 90 entities has received much attention. During the last decades, considerable effort has been devoted to delimiting the species of the complex. This information is of great importance for agriculture and world trade, since the complex harbours several pest species of major economic importance and other species that could evolve into global threats. Speciation in Diptera is usually accompanied by chromosomal rearrangements, particularly inversions that are assumed to reduce/eliminate gene flow. Other candidates currently receiving much attention regarding their possible involvement in speciation are reproductive symbionts, such as Wolbachia, Spiroplasma, Arsenophonus, Rickettsia and Cardinium. Such symbionts tend to spread quickly through natural populations and can cause a variety of phenotypes that promote pre-mating and/or post-mating isolation and, in addition, can affect the biology, physiology, ecology and evolution of their insect hosts in various ways. Considering all these aspects, we present: (a) a summary of the recently gained knowledge on the cytogenetics of five members of the Bactrocera dorsalis complex, namely Bactrocera dorsalis s.s., Bactrocera invadens, Bactrocera philippinensis, Bactrocera papayae and Bactrocera carambolae, supplemented by additional data from a Bactrocera dorsalis s.s. colony from China, as well as by a cytogenetic comparison between the dorsalis complex and the genetically close species, Bactrocera tryoni, and, (b) a reproductive symbiont screening of 18 different colonized populations of these five taxa. Our analysis did not reveal any chromosomal rearrangements that could differentiate among them. Moreover, screening for reproductive symbionts was negative for all colonies derived from different geographic origins and/or hosts. There are many different factors that can lead to speciation, and our data do not support chromosomal and/or symbiotic

  15. Mechanisms of karyotype differentiation in Cassidinae sensu lato (Coleoptera, Polyphaga, Chrysomelidae) based on seven species of the Brazilian fauna and an overview of the cytogenetic data.

    PubMed

    de Julio, Milena; Fernandes, Flávia Rodrigues; Costa, Cleide; Almeida, Mara Cristina; Cella, Doralice Maria

    2010-01-01

    Among the subfamilies of Chrysomelidae, Cassidinae sensu lato (s.l.) includes 6000 species distributed in 43 tribes. Approximately 100 of these species were cytogenetically analyzed and most of them presented 2n=18=16+Xy(p), which was smaller than 2n=20=18+Xy(p) considered basal for Polyphaga. However, some groups of species presented maintenance of the basal diploid number and others showed increase in this number. Certain species of the latter group also exhibited variation in the type of sex chromosome system (SCS). Considering the recent taxonomic revision accomplished for the Cassidinae s.l. species, the existence of phylogenetic relationship for some species of this subfamily, the high diversity of species of this group in the Neotropical region, and the low number of Cassidinae s.l. species karyotyped so far, the aim of the present work was to establish the main mechanisms involved in the karyotype evolution of this subfamily through the study of seven species of the Brazilian fauna and overview of the cytogenetic data. The individuals were collected in southeast and south of Brazil. The chromosomal preparations obtained from embryo and testes of adult males were stained with Giemsa solution. The species Agroiconota inedita (2n=42=40+Xy(p)), Charidotella (s.str.) immaculata (2n=22=20+Xy(p)), Charidotella (s.str.) sexpunctata (2n=22=20+Xy(p)), and Stolas chalybaea (2n=24=22+Xy(p)) revealed diploid number higher than that established as basal for Polyphaga and biarmed chromosomes. The karyotype of Cteisella confusa, Deloyala cruciata, and Metriona elatior showed the chromosomal formulae 2n=18=16+Xy(p) considered modal for Cassidinae s.l. and biarmed chromosomes. The seven species exhibited easily identified sex chromosomes due to their size and/or morphology. The analysis of meiotic cells of all the species showed pachytenes with a positively heteropycnotic block probably corresponding to the sex chromosomes; diplotenes with a high number of bivalents with two

  16. Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?

    PubMed Central

    Peterson, Jess F.; Aggarwal, Nidhi; Smith, Clayton A.; Gollin, Susanne M.; Surti, Urvashi; Rajkovic, Aleksandar; Swerdlow, Steven H.; Yatsenko, Svetlana A.

    2015-01-01

    Purpose To evaluate the clinical utility, diagnostic yield and rationale of integrating microarray analysis in the clinical diagnosis of hematological malignancies in comparison with classical chromosome karyotyping/fluorescence in situ hybridization (FISH). Methods G-banded chromosome analysis, FISH and microarray studies using customized CGH and CGH+SNP designs were performed on 27 samples from patients with hematological malignancies. A comprehensive comparison of the results obtained by three methods was conducted to evaluate benefits and limitations of these techniques for clinical diagnosis. Results Overall, 89.7% of chromosomal abnormalities identified by karyotyping/FISH studies were also detectable by microarray. Among 183 acquired copy number alterations (CNAs) identified by microarray, 94 were additional findings revealed in 14 cases (52%), and at least 30% of CNAs were in genomic regions of diagnostic/prognostic significance. Approximately 30% of novel alterations detected by microarray were >20 Mb in size. Balanced abnormalities were not detected by microarray; however, of the 19 apparently “balanced” rearrangements, 55% (6/11) of recurrent and 13% (1/8) of non-recurrent translocations had alterations at the breakpoints discovered by microarray. Conclusion Microarray technology enables accurate, cost-effective and time-efficient whole-genome analysis at a resolution significantly higher than that of conventional karyotyping and FISH. Array-CGH showed advantage in identification of cryptic imbalances and detection of clonal aberrations in population of non-dividing cancer cells and samples with poor chromosome morphology. The integration of microarray analysis into the cytogenetic diagnosis of hematologic malignancies has the potential to improve patient management by providing clinicians with additional disease specific and potentially clinically actionable genomic alterations. PMID:26299921

  17. Cytogenetic characterization of two species of Frieseomelitta Ihering, 1912 (Hymenoptera, Apidae, Meliponini)

    PubMed Central

    Carvalho, Antônio F.; Costa, Marco Antônio

    2011-01-01

    The cytogenetic analysis of Frieseomelitta dispar and F. francoi revealed the chromosome numbers 2n = 30 and n = 15 and a karyotypic formula 2K = 4M+2Mt+4A+20AM. The number of chromosomes observed was consistent with those reported for other Frieseomelitta species. The occurrence of the Mt chromosome and other features of the karyotype formulae suggest a close relationship between F. dispar, F. francoi and F. varia. Nevertheless, it was possible to differentiate the karyotypes of the species by DAPI/CMA3 staining, which revealed GC-rich regions on two chromosome pairs of F. dispar: one acrocentric and one pseudoacrocentric. In F. francoi, the same kinds of regions were observed on a pair of metacentrics and on a pair of acrocentrics. Our analysis also confirmed the chromosome number conservation in Frieseomelitta and suggests that infrequent pericentric inversion could constitute a synapomorphy for the group including F. dispar, F. francoi, and F. varia. PMID:21734823

  18. Independent sex chromosome evolution in lower vertebrates: a molecular cytogenetic overview in the Erythrinidae fish family.

    PubMed

    Cioffi, M B; Liehr, T; Trifonov, V; Molina, W F; Bertollo, L A C

    2013-01-01

    The Erythrinidae fish family is an excellent model for analyzing the evolution of sex chromosomes. Different stages of sex chromosome differentiation from homomorphic to highly differentiated ones can be found among the species of this family. Here, whole chromosome painting, together with the cytogenetic mapping of repetitive DNAs, highlighted the evolutionary relationships of the sex chromosomes among different erythrinid species and genera. It was demonstrated that the sex chromosomes can follow distinct evolutionary pathways inside this family. Reciprocal hybridizations with whole sex chromosome probes revealed that different autosomal pairs have evolved as the sex pair, even among closely related species. In addition, distinct origins and different patterns of differentiation were found for the same type of sex chromosome system. These features expose the high plasticity of the sex chromosome evolution in lower vertebrates, in contrast to that occurring in higher ones. A possible role of this sex chromosome turnover in the speciation processes is also discussed. PMID:23919986

  19. Cytogenetic evidences of genome rearrangement and differential epigenetic chromatin modification in the sea lamprey (Petromyzon marinus).

    PubMed

    Covelo-Soto, Lara; Morán, Paloma; Pasantes, Juan J; Pérez-García, Concepción

    2014-12-01

    This work explores both the chromatin loss and the differential genome methylation in the sea lamprey (Petromyzon marinus) from a molecular cytogenetic point of view. Fluorescent in situ hybridization experiments on meiotic bivalents and mitotic chromosomes corroborate the chromatin loss previously observed during the development of the sea lamprey and demonstrate that the elimination affects not only to Germ1 sequences but also to the rpt200 satellite DNA and most part of the major ribosomal DNA present on the germinal line. 5-Methylcytosine immunolocation revealed that the GC-rich heterochromatin is highly methylated in the germ line but significantly less in somatic chromosomes. These findings not only support previous observations about genome rearrangements but also give new information about epigenetic changes in P. marinus. The key position of lampreys in the vertebrate phylogenetic tree makes them an interesting taxon to provide relevant information about genome evolution in vertebrates. PMID:25432678

  20. Cytogenetic analysis of Scinaxauratus and Scinaxeurydice (Anura, Hylidae) with emphasis on cytotaxonomy.

    PubMed

    Nogueira, Lídia; Paim, Fabilene; Diniz, Débora; Solé, Mirco; Affonso, Paulo; Siqueira, Sérgio; Sampaio, Iracilda

    2015-01-01

    Scinax Wagler, 1830 is a species-rich genus of amphibians with relatively few detailed chromosomal reports. In this work, cytogenetic analyses of Scinaxauratus (Wied-Neuwied, 1821) and Scinaxeurydice (Bokermann, 1968) were carried out based on conventional (Giemsa staining, Ag-NOR and C-banding) and cytomolecular (base-specific fluorochrome staining and fluorescence in situ hybridization - FISH of ribosomal probes) techniques. Both species shared the same karyotype, location of active nucleolar organizer regions on pair 11 and GC-rich heterochromatin, as reported for most species in Scinaxruber clade. Interpopulation chromosomal variation was observed in Scinaxeurydice, indicating the occurrence of cryptic species. The mapping of 18S ribosomal genes by FISH is reported for the first time in both species. PMID:26140164

  1. Cytogenetic analysis of Scinax auratus and Scinax eurydice (Anura, Hylidae) with emphasis on cytotaxonomy

    PubMed Central

    Nogueira, Lídia; Paim, Fabilene; Diniz, Débora; Solé, Mirco; Affonso, Paulo; Siqueira, Sérgio; Sampaio, Iracilda

    2015-01-01

    Abstract Scinax Wagler, 1830 is a species-rich genus of amphibians with relatively few detailed chromosomal reports. In this work, cytogenetic analyses of Scinax auratus (Wied-Neuwied, 1821) and Scinax eurydice (Bokermann, 1968) were carried out based on conventional (Giemsa staining, Ag-NOR and C-banding) and cytomolecular (base-specific fluorochrome staining and fluorescence in situ hybridization – FISH of ribosomal probes) techniques. Both species shared the same karyotype, location of active nucleolar organizer regions on pair 11 and GC-rich heterochromatin, as reported for most species in Scinax ruber clade. Interpopulation chromosomal variation was observed in Scinax eurydice, indicating the occurrence of cryptic species. The mapping of 18S ribosomal genes by FISH is reported for the first time in both species. PMID:26140164

  2. Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association.

    PubMed

    Kumar, Madhavan Jeevan; Kumar, Rangasamy Ashok; Subhashree, Venugopal; Jayasudha, Thanikachalam; Hemagowri, Venkatasubramanian; Koshy, Teena; Gowrishankar, Kalpana

    2015-01-01

    A neocentromere is a functional centromere that has arisen within a region not known to have a centromere. We present a case with a very rarely reported class II neocentromere formation in an aberrant chromosome 7. A 22-month-old male was referred because of dysmorphic features. Banding cytogenetics was performed, and a ring 7 and a supernumerary marker chromosome along with a normal chromosome 7 were found. In situ hybridization using a centromeric probe revealed 46 signals, of which 2 signals for chromosome 7 were observed, one on the normal and one on the ring chromosome. Further analysis using FISH revealed that the linear acentric fragment was part of the 7q region, which suggests that there could be a possible McClintock mechanism. PMID:26226839

  3. Integrated genetic map of Anopheles gambiae: use of RAPD polymorphisms for genetic, cytogenetic and STS landmarks.

    PubMed

    Dimopoulos, G; Zheng, L; Kumar, V; della Torre, A; Kafatos, F C; Louis, C

    1996-06-01

    Randomly amplified polymorphic DNA (RAPD) markers have been integrated in the genetic and cytogenetic maps of the malaria vector mosquito, Anopheles gambiae. Fifteen of these markers were mapped by recombination, relative to microsatellite markers that had been mapped previously. Thirty-four gel-purified RAPD bands were cloned and sequenced, generating sequence tagged sites (STSs) that can be used as entry points to the A. gambiae genome. Thirty one of these STSs were localized on nurse cell polytene chromosomes through their unique hybridization signal in in situ hybridization experiments. Five STSs map close to the breakpoints of polymorphic inversions, which are notable features of the Anopheles genome. The usefulness and limitations of this integrated mosquito map are discussed. PMID:8725241

  4. AGI, a previously unreported D. melanogaster {alpha}-glucosidase: Partial purification, characterization, and cytogenetic mapping

    SciTech Connect

    Parker, G.F.; Roberts, D.B.

    1996-04-01

    Inbred Drosophila melanogaster stocks were surveyed for {alpha}-glucosidases with nondenaturing gel electrophoresis using a fluorogenic substrate to stain the gels. The glucosidase most active under these conditions is polymorphic. We established that the polymorphism is genetic in origin and that the glucosidase was not likely to be a previously characterized enzyme. The gene encoding the enzyme was mapped cytogenetically to 33 A1-2- 33A8-B1, confirming that this is an enzyme not yet reported in D. melanogaster. The enzyme was partially purified by elution from nondenaturing gels, which enable us to establish that it has optimal activity at pH 6 and interacts most strongly with {alpha}- 1 -4 glucosides. A developmental and tissue survey suggested that this enzyme could have a purely digestive role or be involved in carbohydrate metabolism inside the organism. We propose that this enzyme is involved in either starch digestion or glycogen metabolism. 37 refs., 6 figs., 1 tab.

  5. Cytogenetic effects of heavy charged particles of galactic cosmic radiation in experiments aboard Cosmos-1129 biosatellite

    SciTech Connect

    Nevzgodina, L.V.; Maksimova, Y.N.

    1982-08-01

    An experiment was carried out on lettuce (Lactuca sativa) seeds flown in a biocontainer equipped with plastic detectors to record heavy charged particles (HCP). The purpose of the experiment was to determine the yield of aberrant cells as a result of irradiation, and to identify this effect as a function of HCP topography in the seed. The cytogenetic examination of flight seedlings revealed a significant difference between the seeds which were hit with HCP and those that remained intact. This indicates a significant contribution of the heavy component of galactic cosmic radiation into the radiobiological effect. The relationship between the radiobiological effect and the HCP topography in the seed was established: zones of the root and stem meristem proved to be the most sensitive targets.

  6. Cytogenetic Low-Dose Hyperradiosensitivity Is Observed in Human Peripheral Blood Lymphocytes

    SciTech Connect

    Seth, Isheeta; Joiner, Michael C.; Tucker, James D.

    2015-01-01

    Purpose: The shape of the ionizing radiation response curve at very low doses has been the subject of considerable debate. Linear-no-threshold (LNT) models are widely used to estimate risks associated with low-dose exposures. However, the low-dose hyperradiosensitivity (HRS) phenomenon, in which cells are especially sensitive at low doses but then show increased radioresistance at higher doses, provides evidence of nonlinearity in the low-dose region. HRS is more prominent in the G2 phase of the cell cycle than in the G0/G1 or S phases. Here we provide the first cytogenetic mechanistic evidence of low-dose HRS in human peripheral blood lymphocytes using structural chromosomal aberrations. Methods and Materials: Human peripheral blood lymphocytes from 2 normal healthy female donors were acutely exposed to cobalt 60 γ rays in either G0 or G2 using closely spaced doses ranging from 0 to 1.5 Gy. Structural chromosomal aberrations were enumerated, and the slopes of the regression lines at low doses (0-0.4 Gy) were compared with doses of 0.5 Gy and above. Results: HRS was clearly evident in both donors for cells irradiated in G2. No HRS was observed in cells irradiated in G0. The radiation effect per unit dose was 2.5- to 3.5-fold higher for doses ≤0.4 Gy than for doses >0.5 Gy. Conclusions: These data provide the first cytogenetic evidence for the existence of HRS in human cells irradiated in G2 and suggest that LNT models may not always be optimal for making radiation risk assessments at low doses.

  7. Persistence of Space Radiation Induced Cytogenetic Damage in the Blood Lymphocytes of Astronauts

    NASA Technical Reports Server (NTRS)

    George, Kerry; Cucinotta, Francis A.

    2008-01-01

    Cytogenetic damage in astronaut's peripheral blood lymphocytes is a useful in vivo marker of space radiation induced damage. Moreover, if radiation induced chromosome translocations persist in peripheral blood lymphocytes for many years, as has been assumed, they could potentially be used to measure retrospective doses or prolonged low dose rate exposures. However, as more data becomes available, evidence suggests that the yield of translocations may decline with time after exposure, at least in the case of space radiation exposures. We present our latest follow-up measurements of chromosome aberrations in astronauts blood lymphocytes assessed by FISH painting and collected a various times beginning directly after return from space to several years after flight. For most individuals the analysis of individual time-courses for translocations revealed a temporal decline of yields with different half-lives. Since the level of stable aberrations depends on the interplay between natural loss of circulating T-lymphocytes and replenishment from the stem or progenitor cells, the differences in the rates of decay could be explained by inter-individual variation in lymphocyte turn over. Biodosimetry estimates derived from cytogenetic analysis of samples collected a few days after return to earth lie within the range expected from physical dosimetry. However, a temporal decline in yields may indicate complications with the use of stable aberrations for retrospective dose reconstruction, and the differences in the decay time may reflect individual variability in risk from space radiation exposure. In addition, limited data on multiple flights show a lack of correlation between time in space and translocation yields. Data from one crewmember who has participated in two separate long-duration space missions and has been followed up for over 10 years provides limited information on the effect of repeat flights and show a possible adaptive response to space radiation exposure.

  8. Space Radiation Induced Cytogenetic Damage in the Blood Lymphocytes of Astronauts

    NASA Technical Reports Server (NTRS)

    George, K.; Cucinotta, F. A.

    2008-01-01

    Cytogenetic analysis of astronauts blood lymphocytes provides a direct in vivo measurement of space radiation damage, which takes into account individual radiosensitivity and considers the influence of microgravity and other stress conditions. We present our latest analyses of chromosome damage in astronauts blood lymphocytes assessed by fluorescence in situ hybridization (FISH) chromosome painting and collected at various times beginning directly after return from space to several years after flight. Dose was derived from frequencies of chromosome exchanges using preflight calibration curves, and the Relative Biological Effect (RBE) was estimated by comparison with individually measured physically absorbed doses. Values for average RBE were compared to the average quality factor (Q), from direct measurements of the lineal energy spectra using a tissue-equivalent proportional counter (TEPC) and radiation transport codes. Results prove that cytogenetic biodosimetry analyses on blood collected within a week or two of return from space provides a reliable estimate of equivalent radiation dose and risk after protracted exposure to space radiation of a few months or more. However, data collected several months or years after flight suggests that the yield of chromosome translocations may decline with time after the mission, indicating that retrospective doses may be more difficult to estimate. In addition, limited data on multiple flights show a lack of correlation between time in space and translocation yields. Data from one crewmember, who has participated in two separate long-duration space missions and has been followed up for over 10 years, provide limited information on the effect of repeat flights and show a possible adaptive response to space radiation exposure.

  9. Assessment of intra-tumoral karyotypic heterogeneity by interphase cytogenetics in paraffin wax sections

    PubMed Central

    Southern, S A; Herrington, C S

    1996-01-01

    Aim—To analyse the effect of sectioning on the assessment of karyotypic heterogeneity by interphase cytogenetics in paraffin wax embedded normal squamous epithelium and to apply the principles derived to invasive cervical carcinoma. Methods—Normal male (n = 5) and female (n = 5) squamous epithelia were hybridised with peri-centromeric repeat probes specific for chromosomes X (DXZ1) and 17 (D17Z1) individually and in combination to assess the effect of sectioning on mono-, di-, tri-, and tetrasomic populations. Section thickness, interobserver variation and variation between different areas of the epithelium were evaluated. Invasive squamous carcinomas of the cervix (n = 5) were then hybridised with the DXZ1 probe and intratumoral heterogeneity was assessed by comparison of signal distributions obtained from different areas. Results—The optimum section thickness for the assessment of normal epithelium was 6 μm. Variation in the expected signal number in the range 1-4 did not introduce artefactual heterogeneity at this section thickness. The sensitivity of this approach for the detection of minor subpopulations was calculated to be 13-16%, 17-18% and 10-11% for mono-, tri- and tetrasomic populations, respectively. Karyotypic heterogeneity was detected in two of the five tumours and, in one case where the populations where clustered morphologically, a minor population representing 18% was identified. Conclusions—Interphase cytogenetic analysis of sections from paraffin wax embedded material can be used for the detection of minor subpopulations in tumours. This approach will be of particular value in the assessment of the relation between human papillomavirus infection and tumour karyotype and in the analysis of intraepithelial neoplasia. Images PMID:16696090

  10. Cytogenetics and molecular genetics of carcinomas arising from thyroid epithelial follicular cells.

    PubMed

    Pierotti, M A; Bongarzone, I; Borello, M G; Greco, A; Pilotti, S; Sozzi, G

    1996-05-01

    Cytogenetic and molecular analyses of thyroid tumors have indicated that these neoplasms represent a good model for analyzing human epithelial cell multistep carcinogenesis. They comprise, in fact, a broad spectrum of lesions with different phenotypes and variable biological and clinical behavior. Molecular analysis has detected specific genetic alterations in the different types of thyroid tumors. In particular, the well-differentiated carcinomas of the papillary type are characterized by activation of the receptor tyrosine kinases (RTKs), RET and NTRK1 proto-oncogenes. Cytogenetic analysis of these tumors has contributed to defining the chromosomal mechanisms leading to RTK oncogenic activation. In the majority of cases, intrachromosomal inversions of chromosome 10 and chromosome 1 led to the formation of RET-derived and NTRK1-derived oncogenes, respectively. Interestingly, molecular analysis of these oncogenes revealed their nature of chimeric fusion proteins all sharing the tyrosine kinase (TK) domains of the respective proto-oncogenes. Moreover, the sequencing of the oncogenic rearrangements led to the identification of a breakpoint cluster region in both RTK proto-oncogenes. Exposure to ionizing radiation is associated with papillary carcinomas and RET activation has been suggested to be related to this event. Conversely, RAS point mutations are frequently observed in tumors with follicular histology and have been associated with metastatic dissemination. Iodide-deficient areas seem to provide a higher frequency of RAS positive follicular carcinomas. Finally, a high prevalence of TPS3 point mutations has been detected only in undifferentiated or anaplastic carcinomas and found to correlate inversely with 8CL2 expression. All of these findings are contributing to the definition of genetic and environmental factors relevant for the pathogenesis of thyroid tumors. Moreover, the characterization of specific genetic lesions could provide significant molecular

  11. Cytogenetic effects from exposure to mixed pesticides and the influence from genetic susceptibility.

    PubMed Central

    Au, W W; Sierra-Torres, C H; Cajas-Salazar, N; Shipp, B K; Legator, M S

    1999-01-01

    Exposure to pesticides remains a major environmental health problem. Health risk from such exposure needs to be more precisely understood. We conducted three different cytogenetic assays to elucidate the biological effects of exposure to mixed pesticides in 20 Costa Rica farmers (all nonsmokers) compared with 20 matched controls. The farmers were also exposed to dibromochloropropane during the early employment years, and most of them experienced sterility/fertility problems. Our data show that the farmers had consistently higher frequencies of chromosome aberrations, as determined by the standard chromosome aberration assay, and significantly abnormal DNA repair responses (p < 0.05), as determined by the challenge assay, but no statistically significant differences in the tandem-probe fluorescence in situ hybridization (FISH) assay (p > 0.05). Genotype analysis indicates that farmers with certain "unfavorable" versions of polymorphic metabolizing genes (cytochrome P4502E1, the glutathione S-transferases mu and theta, and the paraoxonase genes) had significantly more biological effects, as determined by all three cytogenetic assays, than both the farmers with the "favorable" alleles and the matched controls. A unique observation is that, in individuals who had inherited an