Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers

PubMed Central

Shankar, Suma P.; Hughbanks-Wheaton, Dianna K.; Birch, David G.; Sullivan, Lori S.; Conneely, Karen N.; Bowne, Sara J.; Stone, Edwin M.; Daiger, Stephen P.

2016-01-01

Purpose We determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene. Methods A total of 62 individuals (19 families) harboring the PRPH2 c.828+3A>T mutation, had phenotype analysis by fundus appearance, electrophysiology, and visual fields. The PRPH2 haplotypes in trans were sequenced for potential modifying variants and generalized estimating equations (GEE) used for statistical analysis. Results Several distinct phenotypes caused by the PRPH2 c.828+3A>T mutation were observed and fell into two clinical categories: Group I (N = 44) with mild pattern dystrophies (PD) and Group II (N = 18) with more severe cone-rod dystrophy (CRD), retinitis pigmentosa (RP), and central areolar chorioretinal dystrophy (CACD). The PRPH2 Gln304-Lys310-Asp338 protein haplotype in trans was found in Group I only (29.6% vs. 0%), whereas the Glu304-Lys310-Gly338 haplotype was predominant in Group II (94.4% vs. 70.4%). Generalized estimating equations analysis for PD versus the CRD/CACD/RP phenotypes in individuals over 43 years alone with the PRPH2 haplotypes in trans and age as predictors, adjusted for correlation within families, confirmed a significant effect of haplotype on severity (P = 0.03) with an estimated odds ratio of 7.16 (95% confidence interval [CI] = [2.8, 18.4]). Conclusions The PRPH2 c.828+3A>T mutation results in multiple distinct phenotypes likely modified by protein haplotypes in trans; the odds of having the CACD/RP-like phenotype (versus the PD phenotype) are 7.16 times greater with a Glu304-Lys310-Gly338 haplotype in trans. Further functional studies of the modifying haplotypes in trans and PRPH2 splice variants may offer therapeutic targets. PMID:26842753

HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden.

PubMed

Olsson, K Sigvard; Ritter, Bernd; Hansson, Norbeth; Chowdhury, Ruma R

2008-07-01

The hemochromatosis mutation, C282Y of the HFE gene, seems to have originated from a single event which once occurred in a person living in the north west of Europe carrying human leukocyte antigen (HLA)-A3-B7. In descendants of this ancestor also other haplotypes appear probably caused by local recombinations and founder effects. The background of these associations is unknown. Isolated river valley populations may be fruitful for the mapping of genetic disorders such as hemochromatosis. In this study, we try to test this hypothesis in a study from central Sweden where the haplotyope A1-B8 was common. HLA haplotypes and HFE mutations were studied in hemochromatosis patients with present or past parental origin in a sparsely populated (1/km(2)) rural district (n = 8366 in the year of 2005), in central Sweden. Pedigrees were constructed from the Swedish church book registry. Extended haplotypes were studied to evaluate origin of recombinations. There were 87 original probands, 36 females and 51 males identified during 30 yr, of whom 86% carried C282Y/C282Y and 14% C282Y/H63D. Of 32 different HLA haplotypes A1-B8 was the most common (34%), followed by A3-B7 (16%), both in strong linkage disequilibrium with controls, (P < 0.001). Twenty-nine different families with A1-B8 had a common founder origin 15 generations ago in small bottleneck populations of the late 16th century. A second A1-B8 founder born 1655 was of Norwegian origin. Most of the A3 carriers (n = 26) had a common founder origin 16 generations ago in an even smaller nearby river valley. A fourth founder family carrying HLA-A2 seems to have originated from a recombination along the descendant lines from the A3 ancestor supported by extended haplotype studies. A1-haplotypes with alleles at the B locus different from B8 had a similar recombination origin as HLA-A2 alleles and a common founder origin 11 generations ago. The intergenerational time interval averaged 35.5 +/- 7.9 yr in men and 31.9 +/- 5.9 in

Ataxia-telangiectasia: founder effect among north African Jews.

PubMed

Gilad, S; Bar-Shira, A; Harnik, R; Shkedy, D; Ziv, Y; Khosravi, R; Brown, K; Vanagaite, L; Xu, G; Frydman, M; Lavin, M F; Hill, D; Tagle, D A; Shiloh, Y

1996-12-01

The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, were identified in various ethnic groups, precluding carrier screening with mutation-specific assays. However, a single mutation was observed in 32/33 defective ATM alleles in Jewish A-T families of North African origin, coming from various regions of Morocco and Tunisia. This mutation, 103C-->T, results in a stop codon at position 35 of the ATM protein. In keeping with the nature of this mutation, various antibodies directed against the ATM protein failed to defect this protein in patient cells. A rapid carrier detection assay detected this mutation in three out of 488 ATM alleles of Jewish Moroccan or Tunisian origin. This founder effect provides a unique opportunity for population-based screening for A-T carriers in a large Jewish community.

A mitochondrial analysis reveals distinct founder effect signatures in Canarian and Balearic goats.

PubMed

Ferrando, A; Manunza, A; Jordana, J; Capote, J; Pons, A; Pais, J; Delgado, T; Atoche, P; Cabrera, B; Martínez, A; Landi, V; Delgado, J V; Argüello, A; Vidal, O; Lalueza-Fox, C; Ramírez, O; Amills, M

2015-08-01

In the course of human migrations, domestic animals often have been translocated to islands with the aim of assuring food availability. These founder events are expected to leave a genetic footprint that may be recognised nowadays. Herewith, we have examined the mitochondrial diversity of goat populations living in the Canarian and Balearic archipelagos. Median-joining network analysis produced very distinct network topologies for these two populations. Indeed, a majority of Canarian goats shared a single ancestral haplotype that segregated in all sampled islands, suggesting a single founder effect followed by a stepping-stone pattern of diffusion. This haplotype also was present in samples collected from archaeological assemblies at Gran Canaria and Lanzarote, making evident its widespread distribution in ancient times. In stark contrast, goats from Majorca and Ibiza did not share any mitochondrial haplotypes, indicating the occurrence of two independent founder events. Furthermore, in Majorcan goats, we detected the segregation of the mitochondrial G haplogroup that has only been identified in goats from Egypt, Iran and Turkey. This finding suggests the translocation of Asian and/or African goats to Majorca, possibly as a consequence of the Phoenician and Carthaginian colonisations of this island. © 2015 Stichting International Foundation for Animal Genetics.

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

PubMed Central

Kono, Michihiro; Takama, Hiromichi; Hamajima, Nobuyuki; Akiyama, Masashi

2014-01-01

Mutations in LIPH cause of autosomal recessive woolly hair/hypotrichosis (ARWH), and the 2 missense mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn) are considered prevalent founder mutations for ARWH in the Japanese population. To reveal genotype/phenotype correlations in ARWH cases in Japan and the haplotypes in 14 Japanese patients from 14 unrelated Japanese families. 13 patients had woolly hair, and 1 patient had complete baldness since birth. An LIPH mutation search revealed homozygous c.736T>A mutations in 10 of the patients. Compound heterozygous c.736T>A and c.742C>A mutations were found in 3 of the patients, and homozygous c.742C>A mutation in 1 patient. The phenotype of mild hypotrichosis with woolly hair was restricted to the patients with the homozygous c.736T>A mutation. The severe phenotype of complete baldness was seen in only 1 patient with homozygous c.742C>A. Haplotype analysis revealed that the alleles containing the LIPH c.736T>A mutation had a haplotype identical to that reported previously, although 4 alleles out of 5 chromosomes containing the LIPH c.742C>A mutation had a different haplotype from the previously reported founder allele. These alleles with c.742C>A are thought to be the third founder LIPH mutation causing ARWH. To accurately determine the prevalence of the founder mutations, we investigated allele frequencies of those mutations in 819 Japanese controls. Heterozygous c.736T>A mutations were found in 13 controls (allele frequency: 0.0079; carrier rate: 0.016), and heterozygous c.742C>A mutations were found in 2 controls (allele frequency: 0.0012; carrier rate: 0.0024). In conclusion, this study confirms the more accurate allele frequencies of the pathogenic founder mutations of LIPH and shows that there is a third founder mutation in Japan. In addition, the present findings suggest that the mutation patterns of LIPH might be associated with hypotrichosis severity in ARWH. PMID:24586639

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.

PubMed

Petersen, Jens A; Kuntzer, Thierry; Fischer, Dirk; von der Hagen, Maja; Huebner, Angela; Kana, Veronika; Lobrinus, Johannes A; Kress, Wolfram; Rushing, Elisabeth J; Sinnreich, Michael; Jung, Hans H

2015-10-06

Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. Thirteen patients from 6 non-related families were included. Age of onset was 18.8 ± 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2 T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869 C>T (p.Gln957Stop), c.5928 G>A (p.Trp1976Stop)). Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2 T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c. 3031 + 2 T>C) suggested a possible founder effect.

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population

PubMed Central

Edelmann, Lisa; Wasserstein, Melissa P.; Kornreich, Ruth; Sansaricq, Claude; Snyderman, Selma E.; Diaz, George A.

2001-01-01

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1β subunit was sequenced. Three novel mutations were identified in seven unrelated AJ patients with MSUD. The locations of the affected residues in the crystal structure of the E1β subunit suggested possible mechanisms for the deleterious effects of these mutations. Large-scale population screening of AJ individuals for R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was ∼1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit. These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group. PMID:11509994

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

PubMed

Edelmann, L; Wasserstein, M P; Kornreich, R; Sansaricq, C; Snyderman, S E; Diaz, G A

2001-10-01

Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino acid metabolism. We noted that a large proportion (10 of 34) of families with MSUD that were followed in our clinic were of Ashkenazi Jewish (AJ) descent, leading us to search for a common mutation within this group. On the basis of genotyping data suggestive of a conserved haplotype at tightly linked markers on chromosome 6q14, the BCKDHB gene encoding the E1beta subunit was sequenced. Three novel mutations were identified in seven unrelated AJ patients with MSUD. The locations of the affected residues in the crystal structure of the E1beta subunit suggested possible mechanisms for the deleterious effects of these mutations. Large-scale population screening of AJ individuals for R183P, the mutation present in six of seven patients, revealed that the carrier frequency of the mutant allele was approximately 1/113; the patient not carrying R183P had a previously described homozygous mutation in the gene encoding the E2 subunit. These findings suggested that a limited number of mutations might underlie MSUD in the AJ population, potentially facilitating prenatal diagnosis and carrier detection of MSUD in this group.

A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.

PubMed

van der Merwe, N C; Hamel, N; Schneider, S-R; Apffelstaedt, J P; Wijnen, J T; Foulkes, W D

2012-02-01

Founder mutations in BRCA1 and BRCA2 have been reported in many different populations. We studied 105 Coloured and 16 Black Xhosa women residing in the Western Cape of South Africa diagnosed with breast cancer. We screened these patients using our standard panel of six previously reported SA Afrikaner and Ashkenazi Jewish BRCA1/2 mutations and identified only two Afrikaner mutations. Further screening by the protein truncation test (BRCA1 exon 11, and BRCA2 exons 10 and 11) revealed an additional four deleterious mutations (BRCA1 c.1504_ 1508del,p.Leu502AlafsX2, BRCA2 c.2826_2829del,p.Ile943LysfsX16, c.6447_6448dup,p.Lys2150IlefsX19 and c.5771_5774del,p.Ile1924Argfs X38). The latter, also known in Breast Cancer Information Core nomenclature as 5999del4, was identified in 4 of 105 (3.8%) Coloureds and 4 of 16 (25%) Xhosa women, which makes it a frequent founder mutation in the Western Cape Province. Although this mutation was previously reported to occur in the Netherlands, haplotype analysis indicated two distinct origins for the Dutch and South African mutations, excluding the possibility of a common Dutch ancestor and suggesting gene flow from the indigenous tribes such as the Xhosa to the Coloured population instead. Further studies to determine the carrier rate of this variant in the Xhosa and other SA populations are warranted. © 2011 John Wiley & Sons A/S.

Recurrent and founder mutations in the PMS2 gene

PubMed Central

Tomsic, Jerneja; Senter, Leigha; Liyanarachchi, Sandya; Clendenning, Mark; Vaughn, Cecily P.; Jenkins, Mark A.; Hopper, John L.; Young, Joanne; Samowitz, Wade; de la Chapelle, Albert

2012-01-01

Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detection. Many mutations are unique. However some mutations are observed repeatedly, across individuals not known to be related, due to the mutation being either recurrent, arising multiple times de novo at hot spots for mutations, or of founder origin, having occurred once in an ancestor. Previously, we observed 36 distinct mutations in a sample of 61 independently ascertained Caucasian probands of mixed European background with PMS2 mutations. Eleven of these mutations were detected in more than one individual not known to be related and of these, six were detected more than twice. These six mutations accounted for 31 (51%) ostensibly unrelated probands. Here we performed genotyping and haplotype analysis in four mutations observed in multiple probands and found two (c.137G>T and exon 10 deletion) to be founder mutations, one (c.903G>T) a probable founder, and one (c.1A>G) where founder mutation status could not be evaluated. We discuss possible explanations for the frequent occurrence of founder mutations in PMS2. PMID:22577899

Recurrent and founder mutations in the PMS2 gene.

PubMed

Tomsic, J; Senter, L; Liyanarachchi, S; Clendenning, M; Vaughn, C P; Jenkins, M A; Hopper, J L; Young, J; Samowitz, W; de la Chapelle, A

2013-03-01

Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detection. Many mutations are unique. However, some mutations are observed repeatedly across individuals not known to be related due to the mutation being either recurrent, arising multiple times de novo at hot spots for mutations, or of founder origin, having occurred once in an ancestor. Previously, we observed 36 distinct mutations in a sample of 61 independently ascertained Caucasian probands of mixed European background with PMS2 mutations. Eleven of these mutations were detected in more than one individual not known to be related and of these, six were detected more than twice. These six mutations accounted for 31 (51%) ostensibly unrelated probands. Here, we performed genotyping and haplotype analysis in four mutations observed in multiple probands and found two (c.137G>T and exon 10 deletion) to be founder mutations and one (c.903G>T) a probable founder. One (c.1A>G) could not be evaluated for founder mutation status. We discuss possible explanations for the frequent occurrence of founder mutations in PMS2. © 2012 John Wiley & Sons A/S.

Identification of a founder mutation for Pendred syndrome in families from northwest Iran.

PubMed

Mohseni, Marzieh; Honarpour, Asal; Mozafari, Reza; Davarnia, Behzad; Najmabadi, Hossein; Kahrizi, Kimia

2014-11-01

Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 mutations vary among different communities. Previous studies have shown that mutations in the SLC26A4 gene are responsible for the more common syndromic hereditary hearing loss in Iran. This study assesses the possibility of a founder mutation for Pendred syndrome in northwest Iran. In this study, we performed comprehensive clinical and genetic evaluations in two unrelated families from northwest Iran with nine members affected by hearing loss (HL). After testing short tandem repeat (STR) markers to confirm linkage to the SLC26A4 locus, we screened the SLC26A4 gene by Sanger sequencing of all 21 exons, exon-intron boundaries and the promoter region for any causative mutation. We identified the same causative mutation in these two families as we had detected earlier in two other Azeri families from northwest Iran. To investigate the possibility of a founder effect in these four families, we conducted haplotype analysis, and 14 single nucleotide polymorphisms (SNPs) throughout the SLC26A4 gene were genotyped. Patients in the two families showed the phenotype of Pendred syndrome. A known frameshift mutation (c.965insA, p.N322Fs7X) in exon 8 was identified in the two families, which was the same mutation that we detected previously in two other Azeri families. The results of haplotype analysis showed that all 15 patients from four families shared the founder mutation. Common haplotypes were not observed in noncarrier members. Based on the results of our two studies, the c.965insA mutation has only been described in Iranian families from northwest Iran, so there is evidence for a founder mutation originating in this part of Iran. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Identification of a founder BRCA1 mutation in the Moroccan population.

PubMed

Quiles, F; Teulé, À; Martinussen Tandstad, N; Feliubadaló, L; Tornero, E; Del Valle, J; Menéndez, M; Salinas, M; Wethe Rognlien, V; Velasco, A; Izquierdo, A; Capellá, G; Brunet, J; Lázaro, C

2016-10-01

Breast cancer (BC) is the most frequent cancer among women in Morocco. However, the role of the most prevalent BC-predisposing genes, BRCA1 and BRCA2, has been largely unexplored. To help define the role of BRCA1 in BC in Morocco, we characterized the first potential BRCA1 founder mutation in this population. Genetic testing of BRCA1 and BRCA2 in BC high-risk families identified mutation BRCA1 c.5309G>T, p.(Gly1770Val) or G1770V in five independent families from Morocco, suggesting a founder effect. To confirm this hypothesis, haplotype construction was performed using seven intragenic and flanking BRCA1 microsatellite markers. Clinical data were also compiled. Clinical data from carriers of mutation G1770V correspond to data from carriers of BRCA1 pathogenic mutations. Microsatellite analysis showed a common haplotype for the five families in a region comprising 1.54 Mb, confirming G1770V as the first specific founder BRCA1 mutation in the Moroccan population. Our findings contribute to a better understanding of BC genetics in the Moroccan population. Nevertheless, comprehensive studies of mutation G1770V in large series of BC patients from Morocco are needed to assess the real prevalence of this mutation and to improve genetic testing and risk assessment in this population. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.

PubMed

Marui, Suemi; Trarbach, Ericka B; Boguszewski, Margaret C S; França, Marcela M; Jorge, Alexander A L; Inoue, Hiroshi; Nishi, Mirian Y; de Lacerda Filho, Luiz; Aguiar-Oliveira, Manuel H; Mendonca, Berenice B; Arnhold, Ivo J P

2012-01-01

Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). To search for GHRHR mutations in patients with familial or sporadic IGHD and to investigate founder effects in recurring mutations. The coding region of GHRHR was entirely amplified and sequenced from DNA of 18 patients with IGHD (16 unrelated) with topic posterior pituitary lobe on MRI. Haplotypes containing promoter SNPs and microsatellites flanking GHRHR were analyzed in patients with c.57+1G>A (IVS1+1G>A) mutation of our previously published kindred and also a Brazilian patient and 2 previously reported Japanese sisters with c.1146G>A (p.E382E) mutation. A novel homozygous intronic GHRHR c.752-1G>A (IVS7-1G>A) mutation, predicting loss of the constitutive splice acceptor site, was identified in two siblings with IGHD. A compound heterozygous c.[57+1G>A];[1146G>A] and a heterozygous c.527C>T (p.A176V) were found in two sporadic cases. Haplotype analysis provided evidence for a founder effect for the c.57+1G>A mutation and independent recurrence for the c.1146G>A mutation. We report a novel splice-disrupting mutation in GHRHR in 2 siblings and provide evidence that all c.57+1G>A (IVS1+1G>A) mutant chromosomes have the same haplotype ancestor, indicating the occurrence of a founder effect in Brazilian patients with IGHD. Copyright © 2012 S. Karger AG, Basel.

Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia.

PubMed

Defesche, J C; Van Diermen, D E; Hayden, M R; Kastelein, J P

1996-04-01

Of the three major Afrikaner founder mutations, responsible for more than 95% of Familial Hypercholesterolemia cases among South African Afrikaners, one mutation called V408M or FHAfrikaner-2 was identified in the Netherlands. Subsequent analysis of a group of Canadian patients of Dutch origin with Familial Hypercholesterolemia revealed the presence of this mutation in western Canada. The founder of the Canadian family, suffering from Familial Hypercholesterolemia caused by V408M, was traced back to Andijk, a small village in the northwestern part of the Netherlands, a region from where the first settlers to South Africa departed in the 17th and 18th century. Further genealogical investigation demonstrated that the mutation must have been introduced in the Netherlands by an individual from northern Germany. Haplotype analysis resulted in the identification of the common haplotypes TaqI-, StuI+, AvaII+, NcoI+ in Canadian as well as Dutch patients with V408M. The results of this study further support the hypothesis that Dutch settlers introduced this Afrikaner founder mutation in the Afrikaner population in South Africa. After a recombinational event in the mutated gene, the mutation was also introduced in western Canada.

The time and place of European admixture in Ashkenazi Jewish history.

PubMed

Xue, James; Lencz, Todd; Darvasi, Ariel; Pe'er, Itsik; Carmi, Shai

2017-04-01

The Ashkenazi Jewish (AJ) population is important in genetics due to its high rate of Mendelian disorders. AJ appeared in Europe in the 10th century, and their ancestry is thought to comprise European (EU) and Middle-Eastern (ME) components. However, both the time and place of admixture are subject to debate. Here, we attempt to characterize the AJ admixture history using a careful application of new and existing methods on a large AJ sample. Our main approach was based on local ancestry inference, in which we first classified each AJ genomic segment as EU or ME, and then compared allele frequencies along the EU segments to those of different EU populations. The contribution of each EU source was also estimated using GLOBETROTTER and haplotype sharing. The time of admixture was inferred based on multiple statistics, including ME segment lengths, the total EU ancestry per chromosome, and the correlation of ancestries along the chromosome. The major source of EU ancestry in AJ was found to be Southern Europe (≈60-80% of EU ancestry), with the rest being likely Eastern European. The inferred admixture time was ≈30 generations ago, but multiple lines of evidence suggest that it represents an average over two or more events, pre- and post-dating the founder event experienced by AJ in late medieval times. The time of the pre-bottleneck admixture event, which was likely Southern European, was estimated to ≈25-50 generations ago.

The time and place of European admixture in Ashkenazi Jewish history

PubMed Central

Xue, James; Lencz, Todd; Darvasi, Ariel; Pe’er, Itsik

2017-01-01

The Ashkenazi Jewish (AJ) population is important in genetics due to its high rate of Mendelian disorders. AJ appeared in Europe in the 10th century, and their ancestry is thought to comprise European (EU) and Middle-Eastern (ME) components. However, both the time and place of admixture are subject to debate. Here, we attempt to characterize the AJ admixture history using a careful application of new and existing methods on a large AJ sample. Our main approach was based on local ancestry inference, in which we first classified each AJ genomic segment as EU or ME, and then compared allele frequencies along the EU segments to those of different EU populations. The contribution of each EU source was also estimated using GLOBETROTTER and haplotype sharing. The time of admixture was inferred based on multiple statistics, including ME segment lengths, the total EU ancestry per chromosome, and the correlation of ancestries along the chromosome. The major source of EU ancestry in AJ was found to be Southern Europe (≈60–80% of EU ancestry), with the rest being likely Eastern European. The inferred admixture time was ≈30 generations ago, but multiple lines of evidence suggest that it represents an average over two or more events, pre- and post-dating the founder event experienced by AJ in late medieval times. The time of the pre-bottleneck admixture event, which was likely Southern European, was estimated to ≈25–50 generations ago. PMID:28376121

The Jewish contribution to medicine. Part III. The 19th and 20th centuries in the USA.

PubMed

Dubovsky, H

1989-08-05

The Jewish hospital movement in the USA, which started in the last century for Jews as foreign immigrants and was extended to the general population this century, is an extensive organisation. Refugee physicians from Europe laid the foundations of Jewish medical involvement in medicine in the USA with Abraham Jacobi, the founder of paediatrics, Landsteiner, who discovered blood grouping, and Waksman, who evolved streptomycin. Other eminent workers, such as the Flexner brothers in medical education and research, Libman, who pioneered blood culture in the USA, and Salk and Sabin with the poliomyelitis vaccine were prominent in the major contribution of Jews to medicine in the USA.

A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.

PubMed

Palombo, Flavia; Al-Wardy, Nadia; Ruscone, Guido Alberto Gnecchi; Oppo, Manuela; Kindi, Mohammed Nasser Al; Angius, Andrea; Al Lamki, Khalsa; Girotto, Giorgia; Giangregorio, Tania; Benelli, Matteo; Magi, Alberto; Seri, Marco; Gasparini, Paolo; Cucca, Francesco; Sazzini, Marco; Al Khabori, Mazin; Pippucci, Tommaso; Romeo, Giovanni

2017-02-01

The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country characterized by one of the highest rates of consanguineous marriages worldwide, prevalence of genetic hearing loss (GHL) is estimated to be 6/10 000. Families of GHL patients have higher consanguinity rates than the general Omani population, indicating a major role for recessive forms. Mutations in GJB2, the most commonly mutated GHL gene, have been sporadically described. We collected 97 DNA samples of GHL probands, affected/unaffected siblings and parents from 26 Omani consanguineous families. Analyzing a first family by whole-exome sequencing, we identified a novel homozygous frameshift duplication (c.1171_1177dupGCCATCT) in MYO15A, the gene linked to the deafness locus DFNB3. This duplication was then found in a total of 8/26 (28%) families, within a 849 kb founder haplotype. Reconstruction of haplotype structure at MYO15A surrounding genomic regions indicated that the founder haplotype branched out in the past two to three centuries from a haplotype present worldwide. The MYO15A duplication emerges as the major cause of GHL in Oman. These findings have major implications for the design of GHL diagnosis and prevention policies in Oman.

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

PubMed Central

Fedyna, Alison; Drayna, Dennis; Kang, Changsoo

2010-01-01

Stuttering is a disorder which affects the fluency of speech. It has been shown to have high heritability, and has recently been linked to mutations in the GNPTAB gene. One such mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual cases. Eight unrelated individuals carrying this mutation were analyzed in an effort to distinguish whether these arise from repeated mutation at the same site, or whether they represent a founder mutation with a single origin. Results show that all 12 chromosomes carrying this mutation share a common haplotype in this region, indicating it is a founder mutation. Further analysis estimated the age of this allele to be ~572 generations. Construction of a cladogram tracing the mutation through our study sample also supports the founder mutation hypothesis. PMID:20944643

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.

PubMed

Le Saux, Olivier; Beck, Konstanze; Sachsinger, Christine; Treiber, Carina; Göring, Harald H H; Curry, Katie; Johnson, Eric W; Bercovitch, Lionel; Marais, Anna-Susan; Terry, Sharon F; Viljoen, Denis L; Boyd, Charles D

2002-10-01

Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 ( MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A notable exception however is the prevalence of PXE among South African Afrikaners. A previous report has suggested that a founder effect may explain the higher prevalence of PXE in Afrikaners, a European-derived population that first settled in South Africa in the 17th century. To investigate this hypothesis, we performed haplotype and mutational analysis of DNA from 24 South African families of Afrikaner, British and Indian descent. Among the 17 Afrikaner families studied, three common haplotypes and six different disease-causing variants were identified. Three of these mutant alleles were missense variants, two were nonsense mutations and one was a single base-pair insertion. The most common variant accounted for 53% of the PXE alleles, whereas other mutant alleles appeared at lower frequencies ranging from 3% to 12%. Haplotype analysis of the Afrikaner families showed that the three most frequent mutations were identical-by-descent, indicating a founder origin of PXE in this population.

Identity-by-Descent-Based Phasing and Imputation in Founder Populations Using Graphical Models

PubMed Central

Palin, Kimmo; Campbell, Harry; Wright, Alan F; Wilson, James F; Durbin, Richard

2011-01-01

Accurate knowledge of haplotypes, the combination of alleles co-residing on a single copy of a chromosome, enables powerful gene mapping and sequence imputation methods. Since humans are diploid, haplotypes must be derived from genotypes by a phasing process. In this study, we present a new computational model for haplotype phasing based on pairwise sharing of haplotypes inferred to be Identical-By-Descent (IBD). We apply the Bayesian network based model in a new phasing algorithm, called systematic long-range phasing (SLRP), that can capitalize on the close genetic relationships in isolated founder populations, and show with simulated and real genome-wide genotype data that SLRP substantially reduces the rate of phasing errors compared to previous phasing algorithms. Furthermore, the method accurately identifies regions of IBD, enabling linkage-like studies without pedigrees, and can be used to impute most genotypes with very low error rate. Genet. Epidemiol. 2011. © 2011 Wiley Periodicals, Inc.35:853-860, 2011 PMID:22006673

Alpha-globin gene haplotypes in South American Indians.

PubMed

Zago, M A; Melo Santos, E J; Clegg, J B; Guerreiro, J F; Martinson, J J; Norwich, J; Figueiredo, M S

1995-08-01

The haplotypes of the alpha-globin gene cluster were determined for 99 Indians from the Brazilian Amazon region who belong to 5 tribes: Wayampí, Wayana-Apalaí, Kayapó, Arára, and Yanomámi. Three predominant haplotypes were identified: Ia (present in 38.9% of chromosomes), IIIa (25.8%), and IIe (22.1%). The only alpha-globin gene rearrangement detected was alpha alpha alpha 3.7 I gene triplication associated with haplotype IIIa, found in high frequencies (5.6% and 10.6%) in two tribes and absent in the others. alpha-Globin gene deletions that cause alpha-thalassemia were not seen, supporting the argument that malaria was absent in these populations until recently. The heterogeneous distribution of alpha-globin gene haplotypes and rearrangements among the different tribes differs markedly from the homogeneous distribution of beta-globin gene cluster haplotypes and reflects the action of various genetic mechanisms (genetic drift, founder effect, consanguinity) on small isolated population groups with a complicated history of divergence-fusion events. The alpha-globin gene haplotype distribution has some similarities to distributions observed in Southeast Asian and Pacific Island populations, indicating that these populations have considerable genetic affinities. However, the absence of several features of the alpha-globin gene cluster that are consistently present among the Pacific Islanders suggests that the similarity of haplotypes between Brazilian Indians and people from Polynesia, Micronesia, and Melanesia is more likely to result of ancient common ancestry rather than the consequence of recent direct genetic contribution through immigration.

Haplotype Frequency Distribution in Northeastern European Saduria entomon (Crustacea: Isopoda) Populations. A Phylogeographic Approach

NASA Astrophysics Data System (ADS)

Sell, Jerzy

2003-11-01

The distribution pattern of mtDNA haplotypes in distinct populations of the glacial relict crustacean Saduria entomon was examined to assess phylogeographic relationships among them. Populations from the Baltic, the White Sea and the Barents Sea were screened for mtDNA variation using PCR-based RFLP analysis of a 1150 bp fragment containing part of the CO I and CO II genes. Five mtDNA haplotypes were recorded. An analysis of geographical heterogeneity in haplotype frequency distributions revealed significant differences among populations. The isolated populations of S. entomon have diverged since the retreat of the last glaciation. The geographical pattern of variation is most likely the result of stochastic (founder effect, genetic drift) mechanisms and suggests that the haplotype differentiation observed is probably older than the isolation of the Baltic and Arctic seas.

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

DOE Office of Scientific and Technical Information (OSTI.GOV)

Horowitz, M.; Tzuri, G.; Eyal, N.

1993-10-01

The frequency of nine different mutated alleles known to occur in the glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of non-Jewish origin. DNA was prepared from peripheral blood, active glucocerebrosidase sequences were amplified by using the PCR technique, and the mutations were identified by using the allele-specific oligonucleotide hybridization method. The N37OS mutation appeared in 69.77% of the mutated alleles in Jewis patients and in 22.86% of the mutated alleles in non-Jews. The 84GG mutation, which has not been found so farmore » among non-Jewish patients, existed in 10.17% of the disease alleles among Jewish patients. The IVS2+1 mutation constituted 2.26% of the disease alleles among Jewish Patients and 1.43% among the non-Jewish patients. RecTL, a complex allele containing four single-base-pair changes, occurred in 2.26% of the alleles in Jewish patients and was found in two (1.43%) of the patients of non-Jewish extraction. Another complex allele, designated [open quotes]RecNcil[close quotes] and containing three single-point mutations, appeared in 7.8% of alleles of non-Jewish patients and in only two (0.56%) of the Jewish families. The prevalence of the L444P mutation among non-Jewish Gaucher patients was 31.43%, while its prevalence among Jewish patients was only 4.24%. The prevalence of two other point mutations-D409H and R463C- was 5.00% and 3.57%, respectively, among non-Jewish patients and was not found among the Jewish Gaucher patient population. The prevalence of the R496H mutation, found so far only among Jewish patients, is 1.13%. The results presented demonstrate that seven mutations identify 90.40% of the mutations among Jewish patients and that these seven mutations allow diagnosis of only 73.52% of the non-Jewish patients. Identification of additional mutant alleles will enhance the accuracy of carrier detection. 33 refs, 3 figs

Rosenak "Teaching Jewish Values"

ERIC Educational Resources Information Center

Resnick, David

2014-01-01

Rosenak's "Teaching Jewish Values" (1986) is perhaps his most accessible book about Jewish education. After diagnosing the "diseases" of Jewish education, he endorses "teaching Jewish values" as the curricular strategy most likely to succeed given the chasm which divides traditional Jewish subject matter and the…

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.

PubMed

Terasawa, Hideo; Oda, Masaya; Morino, Hiroyuki; Miyachi, Takafumi; Izumi, Yuishin; Maruyama, Hirofumi; Matsumoto, Masayasu; Kawakami, Hideshi

2004-03-25

The highest prevalence rate of spinocerebellar ataxia type 6 (SCA6) in the worldwide population is in the Chugoku and Kansai areas of Western Japan, but the reason of this geographic characteristics is unclear. We investigated the predisposing haplotypes and their geographic distribution. Genotyping of five microsatellite markers and three single nucleotide polymorphisms linked to the CACNA1A gene in 150 Japanese SCA6 patients from unrelated 118 families revealed three major haplotypes, carrying a pool of one common haplotype core. A founder chromosome was thought to have historically diverged into at least three types. One of the major haplotypes newly identified showed a strong geographical cluster around the Seto Inland Sea in the Chugoku and Kansai areas of Western Japan, whereas the others were widely distributed throughout Japan. The distribution of predisposing haplotypes contributes to the geographical differences in prevalence of SCA6.

BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile

PubMed Central

Alvarez, Carolina; Tapia, Teresa; Perez-Moreno, Elisa; Gajardo-Meneses, Patricia; Ruiz, Catalina; Rios, Mabel; Missarelli, Claudio; Silva, Mariela; Cruz, Adolfo; Matamala, Luis; Carvajal-Carmona, Luis; Camus, Mauricio; Carvallo, Pilar

2017-01-01

Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2. For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis. We found a total of 25 mutations (6 novel) in 71 index patients among which, nine are present exclusively in Chilean patients. Our analysis revealed the presence of nine founder mutations, 4 in BRCA1 and 5 in BRCA2, shared by 2 to 10 unrelated families and spread in different regions of Chile. Our panel contains the highest amount of founder mutations until today and represents the highest percentage (78%) of BRCA1 and BRCA2 mutation carriers. We suggest that the dramatic reduction of Amerindian population due to smallpox and wars with Spanish conquerors, a scarce population increase during 300 years, and the geographic position of Chile constituted a favorable scenario to establish founder genetic markers in our population. PMID:29088781

COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

PubMed

Voskarides, Konstantinos; Patsias, Charalampos; Pierides, Alkis; Deltas, Constantinos

2008-06-01

Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or more of the general population. We recently described 10 Cypriot families with familial hematuria and thin basement membrane nephropathy in the presence of focal segmental glomerulosclerosis, with founder mutations on COL4A3 gene. Seven of the families carried mutation G1334E on haplotype K, and another three carried mutation G871C on haplotype Ky. In this report we performed extension of the haplotypes with additional polymorphic markers, 12 for haplotype K and 22 for haplotype Ky, to estimate the linkage disequilibrium value between the mutation and flanking noncommon markers. Haplotype Ky extended to 13.71 Mb, but we did not attempt further analysis owing to the small number of chromosomes. Haplotype K extended to 3.83 Mb, thereby suggesting that it was a much older event compared to mutation G871C. Mutation G1334E was calculated to be about 5-10 generations old with a possible origin between 1693 and 1818 AD, during the Ottoman ruling of the island. Both mutations are clustered in specific geographic regions with apparently formerly isolated populations, although mutation G1334E has been detected elsewhere on the island. The identification of founder mutations in large families with microscopic hematuria greatly facilitates presymptomatic diagnosis and provides useful information on the history of the population, while it may also assist in association studies in search for disease modifier genes.

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East

PubMed Central

2012-01-01

Background Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities. Method We report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory. Results We identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic epidermolysis bullosa and xeroderma pigmentosa. Conclusion This report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.

PubMed

Smith, Bradley N; Newhouse, Stephen; Shatunov, Aleksey; Vance, Caroline; Topp, Simon; Johnson, Lauren; Miller, Jack; Lee, Younbok; Troakes, Claire; Scott, Kirsten M; Jones, Ashley; Gray, Ian; Wright, Jamie; Hortobágyi, Tibor; Al-Sarraj, Safa; Rogelj, Boris; Powell, John; Lupton, Michelle; Lovestone, Simon; Sapp, Peter C; Weber, Markus; Nestor, Peter J; Schelhaas, Helenius J; Asbroek, Anneloor Alm Ten; Silani, Vincenzo; Gellera, Cinzia; Taroni, Franco; Ticozzi, Nicola; Van den Berg, Leonard; Veldink, Jan; Van Damme, Phillip; Robberecht, Wim; Shaw, Pamela J; Kirby, Janine; Pall, Hardev; Morrison, Karen E; Morris, Alex; de Belleroche, Jacqueline; Vianney de Jong, J M B; Baas, Frank; Andersen, Peter M; Landers, John; Brown, Robert H; Weale, Michael E; Al-Chalabi, Ammar; Shaw, Christopher E

2013-01-01

A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS+/-FTD from five European cohorts (total n=1347). Single-nucleotide polymorphisms defining the risk haplotype in linked kindreds were genotyped in cases (n=434) and controls (n=856). Haplotypes were analysed using PLINK and aged using DMLE+. In a London clinic cohort, the HREM was the most common mutation in familial ALS+/-FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0.3%). HREM prevalence was high for familial ALS+/-FTD throughout Europe: Belgium 19/22 (86%), Sweden 30/41 (73%), the Netherlands 10/27 (37%) and Italy 4/20 (20%). The HREM did not affect the age at onset or survival of ALS patients. Haplotype analysis identified a common founder in all 137 HREM carriers that arose around 6300 years ago. The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, P<10(-8)). We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe.

The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry

PubMed Central

Davidson, Natalie R.; Billing-Ross, Paul; Dubrovsky, Maya; Campbell, Christopher L.; Oddoux, Carole; Friedman, Eitan; Atzmon, Gil; Halperin, Eran; Ostrer, Harry; Keinan, Alon

2016-01-01

The Bene Israel Jewish community from West India is a unique population whose history before the 18th century remains largely unknown. Bene Israel members consider themselves as descendants of Jews, yet the identity of Jewish ancestors and their arrival time to India are unknown, with speculations on arrival time varying between the 8th century BCE and the 6th century CE. Here, we characterize the genetic history of Bene Israel by collecting and genotyping 18 Bene Israel individuals. Combining with 486 individuals from 41 other Jewish, Indian and Pakistani populations, and additional individuals from worldwide populations, we conducted comprehensive genome-wide analyses based on FST, principal component analysis, ADMIXTURE, identity-by-descent sharing, admixture linkage disequilibrium decay, haplotype sharing and allele sharing autocorrelation decay, as well as contrasted patterns between the X chromosome and the autosomes. The genetics of Bene Israel individuals resemble local Indian populations, while at the same time constituting a clearly separated and unique population in India. They are unique among Indian and Pakistani populations we analyzed in sharing considerable genetic ancestry with other Jewish populations. Putting together the results from all analyses point to Bene Israel being an admixed population with both Jewish and Indian ancestry, with the genetic contribution of each of these ancestral populations being substantial. The admixture took place in the last millennium, about 19–33 generations ago. It involved Middle-Eastern Jews and was sex-biased, with more male Jewish and local female contribution. It was followed by a population bottleneck and high endogamy, which can lead to increased prevalence of recessive diseases in this population. This study provides an example of how genetic analysis advances our knowledge of human history in cases where other disciplines lack the relevant data to do so. PMID:27010569

The Genetics of Bene Israel from India Reveals Both Substantial Jewish and Indian Ancestry.

PubMed

Waldman, Yedael Y; Biddanda, Arjun; Davidson, Natalie R; Billing-Ross, Paul; Dubrovsky, Maya; Campbell, Christopher L; Oddoux, Carole; Friedman, Eitan; Atzmon, Gil; Halperin, Eran; Ostrer, Harry; Keinan, Alon

2016-01-01

The Bene Israel Jewish community from West India is a unique population whose history before the 18th century remains largely unknown. Bene Israel members consider themselves as descendants of Jews, yet the identity of Jewish ancestors and their arrival time to India are unknown, with speculations on arrival time varying between the 8th century BCE and the 6th century CE. Here, we characterize the genetic history of Bene Israel by collecting and genotyping 18 Bene Israel individuals. Combining with 486 individuals from 41 other Jewish, Indian and Pakistani populations, and additional individuals from worldwide populations, we conducted comprehensive genome-wide analyses based on FST, principal component analysis, ADMIXTURE, identity-by-descent sharing, admixture linkage disequilibrium decay, haplotype sharing and allele sharing autocorrelation decay, as well as contrasted patterns between the X chromosome and the autosomes. The genetics of Bene Israel individuals resemble local Indian populations, while at the same time constituting a clearly separated and unique population in India. They are unique among Indian and Pakistani populations we analyzed in sharing considerable genetic ancestry with other Jewish populations. Putting together the results from all analyses point to Bene Israel being an admixed population with both Jewish and Indian ancestry, with the genetic contribution of each of these ancestral populations being substantial. The admixture took place in the last millennium, about 19-33 generations ago. It involved Middle-Eastern Jews and was sex-biased, with more male Jewish and local female contribution. It was followed by a population bottleneck and high endogamy, which can lead to increased prevalence of recessive diseases in this population. This study provides an example of how genetic analysis advances our knowledge of human history in cases where other disciplines lack the relevant data to do so.

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy

PubMed Central

Landsverk, Megan L.; Ruzzo, Elizabeth K.; Mefford, Heather C.; Buysse, Karen; Buchan, Jillian G.; Eichler, Evan E.; Petty, Elizabeth M.; Peterson, Esther A.; Knutzen, Dana M.; Barnett, Karen; Farlow, Martin R.; Caress, Judy; Parry, Gareth J.; Quan, Dianna; Gardner, Kathy L.; Hong, Ming; Simmons, Zachary; Bird, Thomas D.; Chance, Phillip F.; Hannibal, Mark C.

2009-01-01

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with recurrent episodes of focal neuropathy primarily affecting the brachial plexus. Point mutations in the SEPT9 gene have been previously identified as the molecular basis of HNA in some pedigrees. However in many families, including those from North America demonstrating a genetic founder haplotype, no sequence mutations have been detected. We report an intragenic 38 Kb SEPT9 duplication that is linked to HNA in 12 North American families that share the common founder haplotype. Analysis of the breakpoints showed that the duplication is identical in all pedigrees, and molecular analysis revealed that the duplication includes the 645 bp exon in which previous HNA mutations were found. The SEPT9 transcript variants that span this duplication contain two in-frame repeats of this exon, and immunoblotting demonstrates larger molecular weight SEPT9 protein isoforms. This exon also encodes for a majority of the SEPT9 N-terminal proline rich region suggesting that this region plays a role in the pathogenesis of HNA. PMID:19139049

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

PubMed

Landsverk, Megan L; Ruzzo, Elizabeth K; Mefford, Heather C; Buysse, Karen; Buchan, Jillian G; Eichler, Evan E; Petty, Elizabeth M; Peterson, Esther A; Knutzen, Dana M; Barnett, Karen; Farlow, Martin R; Caress, Judy; Parry, Gareth J; Quan, Dianna; Gardner, Kathy L; Hong, Ming; Simmons, Zachary; Bird, Thomas D; Chance, Phillip F; Hannibal, Mark C

2009-04-01

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with recurrent episodes of focal neuropathy primarily affecting the brachial plexus. Point mutations in the SEPT9 gene have been previously identified as the molecular basis of HNA in some pedigrees. However in many families, including those from North America demonstrating a genetic founder haplotype, no sequence mutations have been detected. We report an intragenic 38 Kb SEPT9 duplication that is linked to HNA in 12 North American families that share the common founder haplotype. Analysis of the breakpoints showed that the duplication is identical in all pedigrees, and molecular analysis revealed that the duplication includes the 645 bp exon in which previous HNA mutations were found. The SEPT9 transcript variants that span this duplication contain two in-frame repeats of this exon, and immunoblotting demonstrates larger molecular weight SEPT9 protein isoforms. This exon also encodes for a majority of the SEPT9 N-terminal proline rich region suggesting that this region plays a role in the pathogenesis of HNA.

Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

PubMed

Zha, Yang; Chen, Xing-ming; Lam, Ching-wan; Lee, Soo-chin; Tong, Sui-fan; Gao, Zhi-qiang

2011-08-01

Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It is unclear whether the c.3G>C mutation in Chinese patients is a recurrent mutation or if it is due to a founder effect. We conducted haplotype analysis on these patients to answer this question. Individual case-control study. Germ-line mutations were confirmed in the patients and their families examined in this study using direct sequencing. We also constructed and analyzed haplotypes in four Chinese families. Genotype frequencies were compared to the control group. Three of four families shared the same haplotype, which rarely occurred in the control group. The last family shared a very short area on the physical map with the other three families. There is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation. Copyright © 2011 The American Laryngological, Rhinological, and Otological Society, Inc.

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

PubMed Central

Smith, Bradley N; Newhouse, Stephen; Shatunov, Aleksey; Vance, Caroline; Topp, Simon; Johnson, Lauren; Miller, Jack; Lee, Younbok; Troakes, Claire; Scott, Kirsten M; Jones, Ashley; Gray, Ian; Wright, Jamie; Hortobágyi, Tibor; Al-Sarraj, Safa; Rogelj, Boris; Powell, John; Lupton, Michelle; Lovestone, Simon; Sapp, Peter C; Weber, Markus; Nestor, Peter J; Schelhaas, Helenius J; Asbroek, Anneloor ALM ten; Silani, Vincenzo; Gellera, Cinzia; Taroni, Franco; Ticozzi, Nicola; Van den Berg, Leonard; Veldink, Jan; Van Damme, Phillip; Robberecht, Wim; Shaw, Pamela J; Kirby, Janine; Pall, Hardev; Morrison, Karen E; Morris, Alex; de Belleroche, Jacqueline; Vianney de Jong, J M B; Baas, Frank; Andersen, Peter M; Landers, John; Brown, Robert H; Weale, Michael E; Al-Chalabi, Ammar; Shaw, Christopher E

2013-01-01

A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS+/−FTD from five European cohorts (total n=1347). Single-nucleotide polymorphisms defining the risk haplotype in linked kindreds were genotyped in cases (n=434) and controls (n=856). Haplotypes were analysed using PLINK and aged using DMLE+. In a London clinic cohort, the HREM was the most common mutation in familial ALS+/−FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0.3%). HREM prevalence was high for familial ALS+/−FTD throughout Europe: Belgium 19/22 (86%), Sweden 30/41 (73%), the Netherlands 10/27 (37%) and Italy 4/20 (20%). The HREM did not affect the age at onset or survival of ALS patients. Haplotype analysis identified a common founder in all 137 HREM carriers that arose around 6300 years ago. The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, P<10−8). We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe. PMID:22692064

Haplotypes identified by 10 DNA restriction fragment length polymorphisms at the human low density lipoprotein receptor gene locus.

PubMed Central

Kotze, M J; Langenhoven, E; Retief, A E; Seftel, H C; Henderson, H E; Weich, H F

1989-01-01

Ten useful two allele restriction fragment length polymorphisms of the low density lipoprotein receptor gene were used for haplotype analysis in 45 unrelated familial hypercholesterolaemic (FH) patients, 60 normal controls, and 32 FH homozygotes, all of whom were white Afrikaners. Pedigree analysis in 27 informative heterozygous FH and 23 normal families has shown the segregation of at least 17 haplotypes in the normal population (111 chromosomes) compared to a predominant association of two of these haplotypes with the disease in the FH subjects. This association was further confirmed in 32 FH homozygotes, indicating at least two 'founder' members for the disease in the Afrikaner population. Recombination events were not detected in any of the families studied and we thus conclude that the haplotypes associated with FH function as specific markers for the disease and will allow presymptomatic diagnosis in affected families. PMID:2565980

Texts in Tension: Negotiating Jewish Values in the Adult Jewish Learning Classroom

ERIC Educational Resources Information Center

Woocher, Meredith L.

2004-01-01

In this paper, the author begins with a brief classroom scene that illustrates a number of significant features of contemporary American Jewish life. The engagement of adult students with Jewish text study is an example and outgrowth of the flourishing of programs of adult Jewish learning over the past two decades. Thousands of similar Jewish…

Technology: So Pervasive in Jewish Living, so Absent from Jewish Educational Research

ERIC Educational Resources Information Center

Schein, Jeffrey

2016-01-01

The Jewish world, like the world civilization that hosts it, is awash in new technologies. Appropriately, there is a great deal of attention paid to how to improve the Jewish world and Jewish identity through technology. Paradoxically there is a paucity of literature characterizing the relationship of Jews and Judaism to technology. This article…

New Partners in Jewish Education: Independent Afterschool Jewish Education Programs and Their Relationships with Congregational Supplementary Schools

ERIC Educational Resources Information Center

Novak Winer, Laura

2017-01-01

In recent years the Jewish community has witnessed a growth in the development of Jewish afterschool programs that provide childcare as well as Jewish educational programming to elementary age children. This possible trend may represent a diversification of options for families seeking to provide Jewish education and Jewish experiences for their…

Jewish Women's Psychological Well-Being: The Role of Attachment, Separation, and Jewish Identity

ERIC Educational Resources Information Center

Goldberg, Julie L.; O'Brien, Karen M.

2005-01-01

The purpose of this study was to examine the contributions of attachment, separation, and Jewish identity to psychological well-being in a sample of 115 late adolescent Jewish women. Results from multiple regression analyses demonstrated that attachment to parents, separation from parents, and Jewish identity collectively accounted for variance in…

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

PubMed

Gozlan, Yael; Tenenbaum, Ariel; Shalitin, Shlomit; Lebenthal, Yael; Oron, Tal; Cohen, Ohad; Phillip, Moshe; Gat-Yablonski, Galia

2012-09-01

Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode of inheritance; a primary defect in insulin secretion with non-ketotic hyperglycemia, age of onset under 25 yr; and lack of autoantibodies. Heterozygous mutations in glucokinase (GCK) are associated with mild fasting hyperglycemia and gestational diabetes mellitus while homozygous or compound heterozygous GCK mutations result in permanent neonatal diabetes mellitus. Given that both the Israeli-Arabic and the various Israeli-Jewish communities tend to maintain ethnic seclusion, we speculated that it would be possible to identify a relatively narrow spectrum of mutations in the Israeli population. To characterize the genetic basis of GCK-MODY in the different ethnic groups of the Israeli population. Patients with clinically identified GCK-MODY and their first degree family members. Molecular analysis of GCK was performed on genomic DNA using polymerase chain reaction, denaturing gradient gel electrophoresis (DGGE), and sequencing. Bioinformatic model was preformed using the NEST program. Mutations in GCK were identified in 25 families and were all family-specific, except c.616A>C. p.T206P. This mutation was identified in six unrelated families, all patients from a Jewish-Ashkenazi descent, thus indicating an ethno-genetic correlation. A simple, fast, and relatively cheap DGGE/restriction-digestion assay was developed. The high incidence of the mutant allele in GCK-MODY patients of Jewish-Ashkenazi descent suggests a founder effect. We propose that clinically identified GCK-MODY patients of Jewish-Ashkenazi origin be first tested for this mutation. © 2011 John Wiley & Sons A/S.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.

PubMed

Tipping, A J; Pearson, T; Morgan, N V; Gibson, R A; Kuyt, L P; Havenga, C; Gluckman, E; Joenje, H; de Ravel, T; Jansen, S; Mathew, C G

2001-05-08

Fanconi anemia (FA) is a rare, genetically heterogeneous autosomal recessive disorder associated with progressive aplastic anemia, congenital abnormalities, and cancer. FA has a very high incidence in the Afrikaner population of South Africa, possibly due to a founder effect. Previously we observed allelic association between polymorphic markers flanking the FA group A gene (FANCA) and disease chromosomes in Afrikaners. We genotyped 26 FA families with microsatellite and single nucleotide polymorphic markers and detected five FANCA haplotypes. Mutation scanning of the FANCA gene revealed association of these haplotypes with four different mutations. The most common was an intragenic deletion of exons 12-31, accounting for 60% of FA chromosomes in 46 unrelated Afrikaner FA patients, while two other mutations accounted for an additional 20%. Screening for these mutations in the European populations ancestral to the Afrikaners detected one patient from the Western Ruhr region of Germany who was heterozygous for the major deletion. The mutation was associated with the same unique FANCA haplotype as in Afrikaner patients. Genealogical investigation of 12 Afrikaner families with FA revealed that all were descended from a French Huguenot couple who arrived at the Cape on June 5, 1688, whereas mutation analysis showed that the carriers of the major mutation were descendants of this same couple. The molecular and genealogical evidence is consistent with transmission of the major mutation to Western Germany and the Cape near the end of the 17th century, confirming the existence of a founder effect for FA in South Africa.

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

PubMed Central

Tipping, A. J.; Pearson, T.; Morgan, N. V.; Gibson, R. A.; Kuyt, L. P.; Havenga, C.; Gluckman, E.; Joenje, H.; de Ravel, T.; Jansen, S.; Mathew, C. G.

2001-01-01

Fanconi anemia (FA) is a rare, genetically heterogeneous autosomal recessive disorder associated with progressive aplastic anemia, congenital abnormalities, and cancer. FA has a very high incidence in the Afrikaner population of South Africa, possibly due to a founder effect. Previously we observed allelic association between polymorphic markers flanking the FA group A gene (FANCA) and disease chromosomes in Afrikaners. We genotyped 26 FA families with microsatellite and single nucleotide polymorphic markers and detected five FANCA haplotypes. Mutation scanning of the FANCA gene revealed association of these haplotypes with four different mutations. The most common was an intragenic deletion of exons 12–31, accounting for 60% of FA chromosomes in 46 unrelated Afrikaner FA patients, while two other mutations accounted for an additional 20%. Screening for these mutations in the European populations ancestral to the Afrikaners detected one patient from the Western Ruhr region of Germany who was heterozygous for the major deletion. The mutation was associated with the same unique FANCA haplotype as in Afrikaner patients. Genealogical investigation of 12 Afrikaner families with FA revealed that all were descended from a French Huguenot couple who arrived at the Cape on June 5, 1688, whereas mutation analysis showed that the carriers of the major mutation were descendants of this same couple. The molecular and genealogical evidence is consistent with transmission of the major mutation to Western Germany and the Cape near the end of the 17th century, confirming the existence of a founder effect for FA in South Africa. PMID:11344308

The founder's dilemma.

PubMed

Wasserman, Noam

2008-02-01

Why do people start businesses? For the money and the chance to control their own companies, certainly. But new research from Harvard Business School professor Wasserman shows that those goals are largely incompatible. The author's studies indicate that a founder who gives up more equity to attract cofounders, new hires, and investors builds a more valuable company than one who parts with less equity. More often than not, however, those superior returns come from replacing the founder with a professional CEO more experienced with the needs of a growing company. This fundamental tension requires founders to make "rich" versus "king" trade-offs to maximize either their wealth or their control over the company. Founders seeking to remain in control (as John Gabbert of the furniture retailer Room & Board has done) would do well to restrict themselves to businesses where large amounts of capital aren't required and where they already have the skills and contacts they need. They may also want to wait until late in their careers, after they have developed broader management skills, before setting up shop. Entrepreneurs who focus on wealth, such as Jim Triandiflou, who founded Ockham Technologies, can make the leap sooner because they won't mind taking money from investors or depending on executives to manage their ventures. Such founders will often bring in new CEOs themselves and be more likely to work with their boards to develop new, post-succession roles for themselves. Choosing between money and power allows entrepreneurs to come to grips with what success means to them. Founders who want to manage empires will not believe they are successes if they lose control, even if they end up rich. Conversely, founders who understand that their goal is to amass wealth will not view themselves as failures when they step down from the top job.

"Low Income"--Levels in the Jewish Population; The "Jewish Poor" in Los Angeles. A Summary of Findings.

ERIC Educational Resources Information Center

Massarik, Fred

The concept "Jewish Poor" is defined simply as Jewish households (viz. households containing one or more persons defined as Jewish) whose total household cash income (1969, comparable to U.S. Census) was under 4000 dollars. The data were obtained from four sources: (1) analysis of "Jewish Poor" drawn from Los Angeles phase of…

Considering the Informal Jewish Educator

ERIC Educational Resources Information Center

Winer, Laura Novak

2007-01-01

Informal Jewish education can and must put greater focus on the goals of education. While socialization is a key component, it is not its sole goal. Informal Jewish education must make more central deep, serious Jewish learning in which learners can experience moments of transcendence, connection, and transformation. A key to reaching this goal…

Jewish ethics and xenotransplantation.

PubMed

Mathieu, Richard

2016-07-01

Although exclusively secular approaches to xenotransplantation are methodologically necessary to establish a fundamental verdict on its theoretical ethical acceptability, it is nevertheless pragmatically appropriate to take into account specifically religious positions, as religion is a factor relevant to societal acceptability. Apart from the aspect of societal acceptability, Jewish bioethics, like other religiously embedded ethics, may enrich the broader ethical discourse on xenotransplantation, as some of its principles-pikuach nefesh being the most prominent one-are plausible even in the framework of secular ethics. This paper first explores concepts of normativity in Jewish ethics before identifying specific ethical issues in Jewish bioethics and possible resolutions offered within the framework of Jewish ethics, and then finally examine the implications for the broader debate on xenotransplantation. Religions in general and Judaism in specific cannot and should not be systematically excluded from ethical debates, not only because they may provide helpful input, but also because religion, religiousness and the affiliation to a religion can be crucial factors regarding the societal acceptability of specific medical technologies and procedures as they may be important aspects of an individual's identity. The principles of Jewish bioethics may be compelling to those who do not necessarily share the specifically religious prerequisites on which Jewish ethics is established. Among these rather cogent concepts is the status of natural law and naturalness, which is far more open to medical technologies and procedures deemed as unnatural and thus morally wrong by other religious parties in public discourse. Jewish ethics has strong tendencies toward supporting xenotransplantation given a certain criteria is met. No categorical bans on xenotransplantation can be established on the grounds of Halacha. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Internalization of Jewish Values by Children Attending Orthodox Jewish Schools, and Its Relationship to Autonomy-Supportive Parenting and Adjustment

ERIC Educational Resources Information Center

Cohen, Lori R.; Milyavskaya, Marina; Koestner, Richard

2009-01-01

The present study examined the way in which children attending Orthodox Jewish schools internalize the value of both their Jewish studies and secular studies, as well as the value of Jewish cultural practices. A distinction was made between identified internalization, where children perceive Jewish studies and Jewish culture to be an important…

Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.

PubMed

Leedom, Tracey P; LaDuca, Holly; McFarland, Rachel; Li, Shuwei; Dolinsky, Jill S; Chao, Elizabeth C

2016-09-01

CHEK2 mutations are associated with increased cancer risks, including breast; however, published risk estimates are limited to those conferred by CHEK2 founder mutations, presenting uncertainty in risk assessment for carriers of other CHEK2 mutations. This study aimed to assess phenotypes and molecular characteristics of CHEK2 mutation carriers (CHEK2 + s) from a multi-gene panel testing (MGPT) cohort, focusing on comparing phenotypes of founder and non-founder CHEK2 + s. Clinical histories and molecular results were reviewed from 45,879 patients who underwent MGPT including CHEK2 at a commercial laboratory. Of individuals tested, 2.4% (n = 1085) were CHEK2 + s. Sixteen individuals harbored biallelic CHEK2 mutations, bringing the total number of CHEK2 mutations detected in this cohort to 1101. Personal/family cancer histories were compared between founder (n = 576; included c.1100delC, p.S428F, c.444 + 1G > A, and EX8_9del) and non-founder (n = 259) CHEK2 + s using Fisher's exact test and multivariate logistic regression analysis. Individuals carrying the p.I157T moderate risk founder mutation (n = 231), additional mutations in non-CHEK2 genes (n = 83), or biallelic mutations (n = 16) were excluded from phenotype analysis, as were cases with no clinical information provided. No significant phenotypic differences were observed between founder and non-founder CHEK2 + s. These data suggest that cancer risks reported for founder mutations may be generalizable to all CHEK2 + s, particularly for breast cancer. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.

PubMed

Gudnason, V; Sigurdsson, G; Nissen, H; Humphries, S E

1997-01-01

Haplotype analysis in 18 apparently unrelated families with familial hypercholesterolaemia (FH) in Iceland has identified at least five different chromosomes cosegregating with hypercholesterolaemia. The most common haplotype was identified in 11 of the 18 families, indicating a responsible for FH in the Icelandic population. By using single-strand conformation polymorphism (SSCP) and direct sequencing of amplified DNA, we identified a novel mutation (a T to a C) in the second nucleotide in the 5' part of intron 4 in the LDL receptor gene. This mutation was present in approximately 60% of the FH families (10/18), supporting the prediction of a common founder. These families could be traced to a common ancestor in half of the cases by going back no further than the eighteenth century. The mutation was predicted to affect correct splicing of exon 4, and analysis at the cellular level demonstrated an abnormal mRNA containing intron 4 sequence in lymphoblastoid cells from a patient carrying this mutation. Translation of the mRNA would lead to a premature stop codon and a truncated nonfunctional protein of 285 amino acids. The novel sequence change created a new restriction site for the restriction endonuclease NlaIII, and using this assay, 29 unrelated individuals with possible FH attending a lipid clinic for treatment were examined for this mutation. Two individuals in this group of patients were found to be carriers of this mutation, supporting the suggestion of a founder mutation. Using this assay for the detection of FH in the Icelandic population should identify > 60% of these individuals.

Bioethics for clinicians: 22. Jewish bioethics

PubMed Central

Goldsand, Gary; Rosenberg, Zahava R.S.; Gordon, Michael

2001-01-01

Jewish bioethics in the contemporary era emerges from the traditional practice of applying principles of Jewish law (Halacha) to ethical dilemmas. The Bible (written law) and the Talmud (oral law) are the foundational texts on which such deliberations are based. Interpretation of passages in these texts attempts to identify the duties of physicians, patients and families faced with difficult health care decisions. Although Jewish law is an integral consideration of religiously observant Jews, secularized Jewish patients often welcome the wisdom of their tradition when considering treatment options. Jewish bioethics exemplifies how an ethical system based on duties may differ from the secular rights-based model prevalent in North American society. PMID:11332319

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

PubMed Central

Sobel, E.; Lange, K.

1996-01-01

The introduction of stochastic methods in pedigree analysis has enabled geneticists to tackle computations intractable by standard deterministic methods. Until now these stochastic techniques have worked by running a Markov chain on the set of genetic descent states of a pedigree. Each descent state specifies the paths of gene flow in the pedigree and the founder alleles dropped down each path. The current paper follows up on a suggestion by Elizabeth Thompson that genetic descent graphs offer a more appropriate space for executing a Markov chain. A descent graph specifies the paths of gene flow but not the particular founder alleles traveling down the paths. This paper explores algorithms for implementing Thompson's suggestion for codominant markers in the context of automatic haplotyping, estimating location scores, and computing gene-clustering statistics for robust linkage analysis. Realistic numerical examples demonstrate the feasibility of the algorithms. PMID:8651310

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

PubMed

Kwok, Chau-To; Vogelaar, Ingrid P; van Zelst-Stams, Wendy A; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J; Rapkins, Robert W; Ward, Robyn L; Chun, Nicolette; Ford, James M; Ladabaum, Uri; McKinnon, Wendy C; Greenblatt, Marc S; Hitchins, Megan P

2014-05-01

Germline mutations of the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2, and deletions affecting the EPCAM gene adjacent to MSH2, underlie Lynch syndrome by predisposing to early-onset colorectal, endometrial and other cancers. An alternative but rare cause of Lynch syndrome is constitutional epimutation of MLH1, whereby promoter methylation and transcriptional silencing of one allele occurs throughout normal tissues. A dominantly transmitted constitutional MLH1 epimutation has been linked to an MLH1 haplotype bearing two single-nucleotide variants, NM_000249.2: c.-27C>A and c.85G>T, in a Caucasian family with Lynch syndrome from Western Australia. Subsequently, a second seemingly unrelated Caucasian Australian case with the same MLH1 haplotype and concomitant epimutation was reported. We now describe three additional, ostensibly unrelated, cancer-affected families of European heritage with this MLH1 haplotype in association with constitutional epimutation, bringing the number of index cases reported to five. Array-based genotyping in four of these families revealed shared haplotypes between individual families that extended across ≤2.6-≤6.4 megabase regions of chromosome 3p, indicating common ancestry. A minimal ≤2.6 megabase founder haplotype common to all four families was identified, which encompassed MLH1 and additional flanking genes and segregated with the MLH1 epimutation in each family. Our findings indicate that the MLH1 c.-27C>A and c.85G>T variants are borne on a European ancestral haplotype and provide conclusive evidence for its pathogenicity via a mechanism of epigenetic silencing of MLH1 within normal tissues. Additional descendants bearing this founder haplotype may exist who are also at high risk of developing Lynch syndrome-related cancers.

Detecting local haplotype sharing and haplotype association

USDA-ARS?s Scientific Manuscript database

A novel haplotype association method is presented, and its power is demonstrated. Relying on a statistical model for linkage disequilibrium (LD), the method first infers ancestral haplotypes and their loadings at each marker for each individual. The loadings are then used to quantify local haplotype...

Jewish Learning in American Universities: The First Century. The Modern Jewish Experience.

ERIC Educational Resources Information Center

Ritterband, Paul; Wechsler, Harold S.

This book examines the evolution of Jewish studies as an academic discipline within the history and sociology of higher education in the United States from the late 19th century to the present. Chapter 1 discusses the effects of European and American academic history on the late 19th-century appearance of Jewish learning in American universities.…

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

PubMed

Baris, Hagit N; Barnes-Kedar, Inbal; Toledano, Helen; Halpern, Marisa; Hershkovitz, Dov; Lossos, Alexander; Lerer, Israela; Peretz, Tamar; Kariv, Revital; Cohen, Shlomi; Half, Elizabeth E; Magal, Nurit; Drasinover, Valerie; Wimmer, Katharina; Goldberg, Yael; Bercovich, Dani; Levi, Zohar

2016-03-01

Heterozygous germline mutations in any of the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, cause Lynch syndrome (LS), an autosomal dominant cancer predisposition syndrome conferring a high risk of colorectal, endometrial, and other cancers in adulthood. Offspring of couples where both spouses have LS have a 1:4 risk of inheriting biallelic MMR gene mutations. These cause constitutional MMR deficiency (CMMRD) syndrome, a severe recessively inherited cancer syndrome with a broad tumor spectrum including mainly hematological malignancies, brain tumors, and colon cancer in childhood and adolescence. Many CMMRD children also present with café au lait spots and axillary freckling mimicking neurofibromatosis type 1. We describe our experience in seven CMMRD families demonstrating the role and importance of founder mutations and consanguinity on its prevalence. Clinical presentations included brain tumors, colon cancer, lymphoma, and small bowel cancer. In children from two nonconsanguineous Ashkenazi Jewish (AJ) families, the common Ashkenazi founder mutations were detected; these were homozygous in one family and compound heterozygous in the other. In four consanguineous families of various ancestries, different homozygous mutations were identified. In a nonconsanguineous Caucasus/AJ family, lack of PMS2 was demonstrated in tumor and normal tissues; however, mutations were not identified. CMMRD is rare, but, especially in areas where founder mutations for LS and consanguinity are common, pediatricians should be aware of it since they are the first to encounter these children. Early diagnosis will enable tailored cancer surveillance in the entire family and a discussion regarding prenatal genetic diagnosis. © 2015 Wiley Periodicals, Inc.

Gender Role Socialization in Jewish Men.

ERIC Educational Resources Information Center

Lasser, Jon; Gottlieb, Michael C.

There has been little empirical research on the gender role socialization of Jewish men. This paper explores Jewish male gender role socialization and provides a model by which gender and ethnicity may be studied. A description of the gender role socialization of Jewish men, with an emphasis on advantages and disadvantages of such socialization…

Illegal Drug Use in Orthodox Jewish Adolescents.

PubMed

Fogel, Joshua

2004-01-01

Orthodox Jewish adolescents are increasingly seeking stimulation with illegal drugs. Eleven Orthodox Jewish adolescents were surveyed with semi-structured interviews on the Orthodox Jewish cultural aspects of their illegal drug use. Adolescents had mixed beliefs about religious teachings affecting their illegal drug use. No consistent pattern existed for particular ethnic aspects of Orthodox Jewish religious practice as a risk factor for illegal drug use. Language used to describe illegal drug use in this population is described. Unlike illegal drug use in secular and non-Jewish adolescents, these adolescents reported very little family discord or poor relationships with their parents.

[The importance of Jewish nursing in World War I as shown by the example of the Jewish nurses' home in Stuttgart].

PubMed

Ruess, Susanne

2010-01-01

The history of Jewish nursing in World War I has so far not been central to medical history research. Rosa Bendit's war diary is still the only source available on the voluntary service Jewish nurses provided during World War I. Their number was small compared to that of nurses in general. Jewish nursing in Germany has hardly been researched. Jewish nurses, like their Christian colleagues, took on wartime nursing tasks voluntarily. This paper will focus on the experiences of the nurses who were sent to various locations in East and West by the Stuttgart Jewish Nurses' Home. Based on quotations from the war diary their position within the medical service will be described, compared and analyzed. The paper draws attention to special characteristics in the comparison ofJewish and Christian nurses and explores issues such as religious observance, religious discrimination, patriotism and differences in the evaluation of the nurses' work. A brief outline of the history of the Stuttgart Jewish Nurses' Home illustrates their working conditions. The Jewish nurses applied themselves with as much effort and devotion as their Christian counterparts. Although there were only few of them, the Jewish nurses managed to establish a recognized position for themselves within the medical service. The history of Jewish nursing in Stuttgart ended in 1941 when the Jewish Nurses' Home was dissolved by the Nazis and four nurses were murdered in concentration camps.

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants

PubMed Central

Nogueiro, Inês; Teixeira, João; Amorim, António; Gusmão, Leonor; Alvarez, Luis

2015-01-01

The majority of genetic studies on Jewish populations have been focused on Ashkenazim, and genetic data from the Sephardic original source, the Iberian Peninsula, are particularly scarce. Regarding the mitochondrial genome, the available information is limited to a single Portuguese village, Belmonte, where just two different lineages (a single one corresponding to 93.3%) were found in 30 individuals. Aiming at disclosing the ancestral maternal background of the Portuguese Jewry, we enlarged the sampling to other crypto-Jewish descendants in the Bragança district (NE Portugal). Fifty-seven complete mtDNA genomes were newly sequenced and — in contrast with Belmonte — a high level of diversity was found, with five haplogroups (HV0b, N1, T2b11, T2e and U2e) being putatively identified as Sephardic founding lineages. Therefore — in sharp contrast with Belmonte — these communities have managed to escape the expected inbreeding effects caused by centuries of religious repression and have kept a significant proportion of the Sephardic founder gene pool. This deeper analysis of the surviving Sephardic maternal lineages allowed a much more comprehensive and detailed perspective on the origins and survival of the Sephardic genetic heritage. In line with previously published results on Sephardic paternal lineages, our findings also show a surprising resistance to the erosion of genetic diversity in the maternal lineages. PMID:25074462

Echoes from Sepharad: signatures on the maternal gene pool of crypto-Jewish descendants.

PubMed

Nogueiro, Inês; Teixeira, João; Amorim, António; Gusmão, Leonor; Alvarez, Luis

2015-05-01

The majority of genetic studies on Jewish populations have been focused on Ashkenazim, and genetic data from the Sephardic original source, the Iberian Peninsula, are particularly scarce. Regarding the mitochondrial genome, the available information is limited to a single Portuguese village, Belmonte, where just two different lineages (a single one corresponding to 93.3%) were found in 30 individuals. Aiming at disclosing the ancestral maternal background of the Portuguese Jewry, we enlarged the sampling to other crypto-Jewish descendants in the Bragança district (NE Portugal). Fifty-seven complete mtDNA genomes were newly sequenced and - in contrast with Belmonte - a high level of diversity was found, with five haplogroups (HV0b, N1, T2b11, T2e and U2e) being putatively identified as Sephardic founding lineages. Therefore - in sharp contrast with Belmonte - these communities have managed to escape the expected inbreeding effects caused by centuries of religious repression and have kept a significant proportion of the Sephardic founder gene pool. This deeper analysis of the surviving Sephardic maternal lineages allowed a much more comprehensive and detailed perspective on the origins and survival of the Sephardic genetic heritage. In line with previously published results on Sephardic paternal lineages, our findings also show a surprising resistance to the erosion of genetic diversity in the maternal lineages.

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

PubMed Central

Hamel, Nancy; Feng, Bing-Jian; Foretova, Lenka; Stoppa-Lyonnet, Dominique; Narod, Steven A; Imyanitov, Evgeny; Sinilnikova, Olga; Tihomirova, Laima; Lubinski, Jan; Gronwald, Jacek; Gorski, Bohdan; Hansen, Thomas v O; Nielsen, Finn C; Thomassen, Mads; Yannoukakos, Drakoulis; Konstantopoulou, Irene; Zajac, Vladimir; Ciernikova, Sona; Couch, Fergus J; Greenwood, Celia M T; Goldgar, David E; Foulkes, William D

2011-01-01

The BRCA1 mutation c.5266dupC was originally described as a founder mutation in the Ashkenazi Jewish (AJ) population. However, this mutation is also present at appreciable frequency in several European countries, which raises intriguing questions about the origins of the mutation. We genotyped 245 carrier families from 14 different population groups (Russian, Latvian, Ukrainian, Czech, Slovak, Polish, Danish, Dutch, French, German, Italian, Greek, Brazilian and AJ) for seven microsatellite markers and confirmed that all mutation carriers share a common haplotype from a single founder individual. Using a maximum likelihood method that allows for both recombination and mutational events of marker loci, we estimated that the mutation arose some 1800 years ago in either Scandinavia or what is now northern Russia and subsequently spread to the various populations we genotyped during the following centuries, including the AJ population. Age estimates and the molecular evolution profile of the most common linked haplotype in the carrier populations studied further suggest that c.5266dupC likely entered the AJ gene pool in Poland approximately 400–500 years ago. Our results illustrate that (1) BRCA1 c.5266dupC originated from a single common ancestor and was a common European mutation long before becoming an AJ founder mutation and (2) the mutation is likely present in many additional European countries where genetic screening of BRCA1 may not yet be common practice. PMID:21119707

Teaching Jewish-Christian Relations in the University Classroom.

ERIC Educational Resources Information Center

Shermis, Michael, Ed.

1988-01-01

This special issue on "Teaching Jewish-Christian Relations in the University Classroom" is meant to be a resource for those involved in Jewish studies and who teach about Jewish-Christian relations. It offers an introduction to the topics of the Jewish-Christian encounter, Israel, anti-Semitism, Christian Scriptures, the works of Elie…

Linkage disequilibrium analysis in young populations: Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

DOE Office of Scientific and Technical Information (OSTI.GOV)

Labuda, M.; Glorieux, F.H.; Labuda, D.

1996-09-01

Pseudo-vitamin D-deficiency rickets (PDDR) was mapped close to D12S90 and between proximal D12S312 and distal (D12S305, D12S104) microsatellites that were subsequently found on a single YAC clone. Analysis of a complex haplotype in linkage disequilibrium (LD) with the disease discriminated among distinct founder effects in French Canadian populations in Acadia and in Charlevoix-Saguenay-Lac-Saint-Jean (Ch-SLSJ), as well as an earlier one in precolonial Europe. A simple demographic model suggested the historical age of the founder effect in Ch-SLSJ to be {approximately}12 generations. The corresponding LD data are consistent with this figure when they are analyzed within the framework of Luria-Delbruck model,more » which takes into account the population growth. Population sampling due to a limited number of first settlers and the rapid demographic expansion appear to have played a major role in the founding of PDDR in Ch-SLSJ and, presumably, other genetic disorders endemic to French Canada. Similarly, the founder effect in Ashkenazim, coinciding with their early settlement in medieval Poland and subsequent expansion eastward, could explain the origin of frequent genetic diseases in this population. 48 refs., 5 figs., 2 tabs.« less

[Debates on the "Jewish nurse" within the Jewish communities in Austro-Hungary around 1900].

PubMed

Malleier, Elisabeth

2008-01-01

The debate about the organisation of nursing became acute during the last decades of the 19th century when big modern Jewish hospitals were built in several cities of the Habsburg Monarchy. This led to an increase in the demand for nurses and to the initiation of a discussion about the professionalisation of Jewish nursing. In these debates different actors with different intentions were involved. While hospitals were looking mainly for inexpensive and unlimited working nurses, middle-class organisations such as B'nai B'rith emphasised the necessity for women to learn a useful profession to be able to support their husbands economically. Furthermore, feminists and women's associations tried to set new standards for female education, emphasising economic independence and improving the working conditions for women. Jewish feminists such as Henriette Weiss in Vienna, Ida Fuerst in Budapest, and Julie Leipen in Prague tried to build up Jewish nursing schools. The different strategies of implementations and the result of their efforts will be the main focus of this paper.

Clinical and genetic characterization of a founder PKHD1 mutation in Afrikaners with ARPKD.

PubMed

Lambie, Lindsay; Amin, Rasheda; Essop, Fahmida; Cnaan, Avital; Krause, Amanda; Guay-Woodford, Lisa M

2015-02-01

Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) occurs in 1:20,000 live births. Disease expression is widely variable, with approximately 30 % of affected neonates dying perinatally, while others survive to adulthood. Mutations at the PKHD1 locus are responsible for all typical presentations. The objectives of this study were to define the clinical and genetic characteristics in a cohort of South African patients of Afrikaner origin, a population with a high prevalence of ARPKD. DNA from the cohort was analyzed for background haplotypes and the p.M627K mutation previously identified in two unrelated Afrikaner patients. The clinical phenotype of the homozygous group was characterized. Analysis of 36 Afrikaner families revealed that 27 patients, from 24 (67 %) families, were homozygous for the p.M627K substitution, occurring on a common haplotype. The clinical phenotype of the homozygous individuals was variable. Our data provide strong evidence that the p.M627K substitution is a founder mutation in the Afrikaner population and can be used for streamlined diagnostic testing for at-risk pregnancies. The observed clinical variability suggests that disease expression is modulated by other genetic loci or by gene-environment interactions.

Jewish views on abortion.

PubMed

Jakobovits, I

1968-01-01

In Jewish law right and wrong, good and evil, are absolute values which transcend time, place, and environment. They defy definition by human intuition or expediency. Jewish law derives from the Divine revelation at Mount Sinai as expounded by sages faithful to, and authorized by, its writ. The Talmud rules that if a woman is in hard travail, and her life must be saved, the child must be aborted and extracted. The mother's life comes first. The fetus is not a human life until it is born. But 19th century Rabbinical works state that it is immoral to destroy a monster child. Modern rabbis are unanimous in condemning abortion, feticide, or infanticide as an unconscionable attack on human life. However, Jewish law allows abortion if the pregnancy will cause severe psychological damage to the mother. No civilized society could survive without laws which occasionally cause some suffering or personal anguish. One human life is worth a million lives, because each life is infinite in value. In cases of rape or incest Jewish law still does not sanction abortion. Man's procreative responsibilities are serious and carry rights and obligations which would be upset by liberalized abortion laws. If a person kills a person who is mortally wounded, the killer is guilty of a moral offense.

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

PubMed

Callén, Elsa; Casado, José A; Tischkowitz, Marc D; Bueren, Juan A; Creus, Amadeu; Marcos, Ricard; Dasí, Angeles; Estella, Jesús M; Muñoz, Arturo; Ortega, Juan J; de Winter, Johan; Joenje, Hans; Schindler, Detlev; Hanenberg, Helmut; Hodgson, Shirley V; Mathew, Christopher G; Surrallés, Jordi

2005-03-01

Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption. This mutation appeared specific for Spanish Gypsies as it is not found in other Gypsy patients with FA from Hungary, Germany, Slovakia, and Ireland. Haplotype analysis showed that Spanish Gypsy patients all share the same haplotype. Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than 600 years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer.

Relevance of ancestral surname identification in pedigrees of Afrikaner families with familial hypercholesterolaemia.

PubMed

Torrington, M; Brink, P A

1990-03-17

Familial hypercholesterolaemia (FH) is more prevalent among Afrikaans-speaking individuals in South Africa then elsewhere. Founder effects have been suggested as an explanation. A study was undertaken that demonstrated ancestral links for a low-density lipoprotein receptor allele, haplotype No. 2, in the two lines of descent identified and 2 other known pedigrees with the same haplotype. Probable founder members for this haplotype are identified. These differ from the founder members assumed to be responsible for a majority of FH. A minor founder effect is suggested. Explanations are given for the apparent lesser prevalence of the second haplotype associated with FH.

75 FR 25099 - Jewish American Heritage Month, 2010

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-07

... 8513 of April 30, 2010 Jewish American Heritage Month, 2010 By the President of the United States of... also maintained their own unique identity. During Jewish American Heritage Month we celebrate this... Jewish American Heritage Month. I call upon all Americans to observe this month with appropriate programs...

Phenylalanine hydroxylase deficiency in Mexico: genotype-phenotype correlations, BH4 responsiveness and evidence of a founder effect.

PubMed

Vela-Amieva, M; Abreu-González, M; González-del Angel, A; Ibarra-González, I; Fernández-Lainez, C; Barrientos-Ríos, R; Monroy-Santoyo, S; Guillén-López, S; Alcántara-Ortigoza, M A

2015-07-01

The mutational spectrum of the phenylalanine hydroxylase gene (PAH) in Mexico is unknown, although it has been suggested that PKU variants could have a differential geographical distribution. Genotype-phenotype correlations and genotype-based predictions of responsiveness to tetrahydrobiopterin (BH4 ) have never been performed. We sequenced the PAH gene and determined the geographic origin of each allele, mini-haplotype associated, genotype-phenotype correlations and genotype-based prediction of BH4 responsiveness in 48 Mexican patients. The mutational spectrum included 34 variants with c.60+5G>T being the most frequent (20.8%) and linked to haplotype 4.3 possibly because of a founder effect and/or genetic drift. Two new variants were found c.1A>T and c.969+6T>C. The genotype-phenotype correlation was concordant in 70.8%. The genotype-based prediction to BH4 -responsiveness was 41.7%, this information could be useful for the rational selection of candidates for BH4 testing and therapy. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Teaching Jewish History to the "Other."

ERIC Educational Resources Information Center

Goffman, Daniel

1991-01-01

Presents a course in Jewish history and culture for non-Jewish students. Stresses the importance of understanding and respecting all cultures, eliminating cultural stereotypes, and preventing polarization and xenophobia. Includes a weekly course syllabus and bibliography. Discusses the importance of countering stereotypes before presenting some…

High relative frequency of SCA1 in Poland reflecting a potential founder effect.

PubMed

Krysa, Wioletta; Sulek, Anna; Rakowicz, Maria; Szirkowiec, Walentyna; Zaremba, Jacek

2016-08-01

Spinocerebellar ataxias (SCAs) have irregular distributions worldwide. SCA1 is the most frequent in Poland, and no cases of SCA3 of Polish origin has yet been identified. In view of such patterns of SCAs occurrence, the relative frequency, geographical distribution and a possible founder effect of SCA1 were investigated. DNA samples of 134 probands with SCA1 and 228 controls were analysed. The genotyping of four markers, D6S89, D6S109, D6S274, D6S288, around the ATXN1 gene (SCA1) and sequencing of the selected variant of D6S89 were performed. The relative frequency of SCA1 was 68 %. The studied SCA1 pedigrees were irregularly distributed, with the highest concentration in Central Poland. Haplotyping revealed the association of ATXN1 gene mutation with a 197-bp variant of D6S89 marker (63 % of probands) and with a 184-bp variant of DS6274 (50.7 % of probands). Out of 61 SCA1 probands from Mazowieckie, 41 carried the same 197-bp variant. SCA1 relative frequency in Poland shows the highest value compared with the data from other countries worldwide. Due to the association with the mutation obtained for the investigated markers and the SCA1 pedigrees concentration in Central Poland, we hypothesise that it represents a potential founder effect.

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

PubMed

Lerer, I; Sagi, M; Ben-Neriah, Z; Wang, T; Levi, H; Abeliovich, D

2001-11-01

A deletion of at least 140 kb starting approximately 35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7 patients from 4 unrelated Jewish Ashkenazi families with non-syndromic hearing loss. These patients were heterozygous for one of the common mutations 167delT or 35delG in the GJB2 gene in trans to the deletion. The deletion started at 5' side of the GJB6 (CX30) gene including the first exon and it did not affect the integrity of the GJB2 gene. The deletion mutation segregated together with the hearing loss, and was not found in a control group of 100 Ashkenazi individuals. We suggest that the deletion is a recessive mutation causing hearing loss in individuals that are double heterozygous for the deletion and for a mutation in the GJB2 gene. The effect of the deletion mutation could be due to a digenic mode of inheritance of GJB2 and GJB6 genes that encode two different connexins; connexin 26 and connexin 30, or it may abolish control elements that are important in the expression of the GJB2 gene in the cochlea. Regardless which of the options is valid, it is apparent that the deletion mutation provides a new insight into connexin function in the auditory system. The deletion mutation was on the same haplotypic background in all the families, and therefore is a founder mutation that increases the impact of GJB2 in the etiology of prelingual recessive non-syndromic hearing loss in the Ashkenazi population. Copyright 2001 Wiley-Liss, Inc.

Jewish College Women: Future Leaders of the Jewish Community?

ERIC Educational Resources Information Center

Lavender, Abraham D.

1977-01-01

It is concluded from this data that the American Jewish community deprives itself of many needed talents to the extent that it does not encourage participation in its leadership positions of all individuals, regardless of sex. (Author/AM)

A New Approach to Jewish Divorce.

ERIC Educational Resources Information Center

Eisenstein, Ira

1983-01-01

Describes recent changes in the traditional Jewish law of divorce, which permits a husband to divorce his wife but does not sanction the wife's divorcing him. The rabbis of the Reconstructionist Movement in Judaism have innovated an egalitarian divorce to prevent Jewish women from becoming abandoned wives. (JAC)

Remembering More Jewish Physicians

PubMed Central

Weisz, George M.; Grzybowski, Andrzej

2016-01-01

The history of medicine has been an intriguing topic for both authors. The modern relevance of past discoveries led both authors to take a closer look at the lives and contributions of persecuted physicians. The Jewish physicians who died in the Holocaust stand out as a stark example of those who merit being remembered. Many made important contributions to medicine which remain relevant to this day. Hence, this paper reviews the lives and important contributions of two persecuted Jewish physicians: Arthur Kessler (1903–2000) and Bronislawa Fejgin (1883–1943). PMID:27487308

Bagels, Schnitzel and McDonald's--"Fuzzy Frontiers" of Jewish Identity in an English Jewish Secondary School

ERIC Educational Resources Information Center

Scholefield, Lynne

2004-01-01

Using data gathered during a case study of the "culture" of a Jewish secondary school, this article explores the indeterminate boundaries of Jewish identity. By examining the mechanisms that control what and who comes into the school, and what is approved and disapproved of in the school, a picture emerges of what and who is counted as…

Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presumable congenital erythrocytosis.

PubMed

Cario, Holger; Schwarz, Klaus; Jorch, Norbert; Kyank, Ulrike; Petrides, Petro E; Schneider, Dominik T; Uhle, Renate; Debatin, Klaus-Michael; Kohne, Elisabeth

2005-01-01

Congenital erythrocytoses or polycythemias are rare and heterogeneous. A homozygous mutation (C598T->Arg200Trp) in the von Hippel-Lindau (VHL) gene was originally identified as the cause of the endemic Chuvash polycythemia. Subsequently this and other mutations in the VHL gene were also detected in several patients of different ethnic origin. Haplotype analyses of the VHL gene suggested a common origin for the Chuvash-type mutation. Thirty-four patients with presumable congenital erythrocytosis due to an unknown underlying disorder were examined for VHL gene mutations and VHL region haplotypes. Four patients were homozygous and one patient heterozygous for the Chuvash-type mutation. One additional patient presented a previously not described heterozygous mutation G311->T VHL in exon 1. The haplotype analyses were in agreement with recently published data for three of the four patients with homozygous mutations as well as for the patient with a heterozygous Chuvash-type mutation. One patient of Turkish origin with homozygous Chuvash-type mutation had a haplotype not previously found in individuals with Chuvash-type mutation. These results confirm that mutations in the VHL gene are responsible for a substantial proportion of patients with congenital erythrocytoses. Erythrocytoses due to a C598->T mutation of the VHL gene are not geographically restricted. The majority of patients with Chuvash polycythemia share a common VHL gene haplotype. The different haplotype in one of the patients with Chuvash-type mutation indicates that this mutation was not spread only from a single founder but developed independently in other individuals.

Constructivism and Jewish Early Childhood Education

ERIC Educational Resources Information Center

Muller, Meir

2013-01-01

Having an educational theory as a school's foundation is a key component in successful educational endeavors. However, many Jewish early childhood programs do not commonly use educational theory to support methods of instruction. In this study 14 children from a constructivist-based Jewish kindergarten class are interviewed to determine how they…

Childbirth customs in Orthodox Jewish traditions.

PubMed Central

Bodo, K.; Gibson, N.

1999-01-01

OBJECTIVE: To describe cultural beliefs of Orthodox Jewish families regarding childbirth in order to help family physicians enhance the quality and sensitivity of their care. QUALITY OF EVIDENCE: These findings were based on a review of the literature searched in MEDLINE (1966 to present), HEALTHSTAR (1975 to present), EMBASE (1988 to present), and Social Science Abstracts (1984 to present). Interviews with several members of the Orthodox Jewish community in Edmonton, Alta, and Vancouver, BC, were conducted to determine the accuracy of the information presented and the relevance of the paper to the current state of health care delivery from the recipients' point of view. MAIN MESSAGE: Customs and practices surrounding childbirth in the Orthodox Jewish tradition differ in several practical respects from expectations and practices within the Canadian health care system. The information presented was deemed relevant and accurate by those interviewed, and the subject matter was considered to be important for improving communication between patients and physicians. Improved communication and recognition of these differences can improve the quality of health care provided to these patients. CONCLUSIONS: Misunderstandings rooted in different cultural views of childbirth and the events surrounding it can adversely affect health care provided to women in the Orthodox Jewish community in Canada. A basic understanding of the cultural foundations of potential misunderstandings will help Canadian physicians provide effective health care to Orthodox Jewish women. PMID:10099807

Bioethics: secular philosophy, Jewish law and modern medicine.

PubMed

Steinberg, A

1989-07-01

The recent unprecedented expansion of scientific knowledge and the greater awareness and involvement of the public in medical matters, as well as additional causes described here, have impelled the development of a new form of bioethics over the past three decades. Jewish law and philosophy have always dealt with medical issues. In recent years, however, a voluminous body of literature devoted to Jewish medical ethics has developed. It covers all relevant issues and offers Jewish solutions to many complex problems arising from the recent scientific breakthroughs. This article analyzes the differences between Jewish and secular philosophies regarding fundamental moral theories relevant to modern medical ethics.

Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.

PubMed

Bu, Rong; Siraj, Abdul K; Al-Obaisi, Khadija A S; Beg, Shaham; Al Hazmi, Mohsen; Ajarim, Dahish; Tulbah, Asma; Al-Dayel, Fouad; Al-Kuraya, Khawla S

2016-09-01

Ethnic differences of breast cancer genomics have prompted us to investigate the spectra of BRCA1 and BRCA2 mutations in different populations. The prevalence and effect of BRCA 1 and BRCA 2 mutations in Middle Eastern population is not fully explored. To characterize the prevalence of BRCA mutations in Middle Eastern breast cancer patients, BRCA mutation screening was performed in 818 unselected breast cancer patients using Capture and/or Sanger sequencing. 19 short tandem repeat (STR) markers were used for founder mutation analysis. In our study, nine different types of deleterious mutation were identified in 28 (3.4%) cases, 25 (89.3%) cases in BRCA 1 and 3 (10.7%) cases in BRCA 2. Seven recurrent mutations identified accounted for 92.9% (26/28) of all the mutant cases. Haplotype analysis was performed to confirm c.1140 dupG and c.4136_4137delCT mutations as novel putative founder mutation, accounting for 46.4% (13/28) of all BRCA mutant cases and 1.6% (13/818) of all the breast cancer cases, respectively. Moreover, BRCA 1 mutation was significantly associated with BRCA 1 protein expression loss (p = 0.0005). Our finding revealed that a substantial number of BRCA mutations were identified in clinically high risk breast cancer from Middle East region. Identification of the mutation spectrum, prevalence and founder effect in Middle Eastern population facilitates genetic counseling, risk assessment and development of cost-effective screening strategy. © 2016 UICC.

Founder Mutations in Xeroderma Pigmentosum

PubMed Central

Tamura, Deborah; DiGiovanna, John J.; Kraemer, Kenneth H.

2012-01-01

In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP. PMID:20463673

Jewishly-Informed Mature Adult Service-Learning

ERIC Educational Resources Information Center

Bretan, Gail Helene

2013-01-01

The purpose of this study is to describe, implement, and interpret the intersection of service-learning, Jewish values and ways of knowing, adult education, and lifelong learning for people over the age of 50. By expanding service-learning to include both older adults and Jewish ways of knowing, there is potential for transforming these frameworks…

The reality and importance of founder speciation in evolution.

PubMed

Templeton, Alan R

2008-05-01

A founder event occurs when a new population is established from a small number of individuals drawn from a large ancestral population. Mayr proposed that genetic drift in an isolated founder population could alter the selective forces in an epistatic system, an observation supported by recent studies. Carson argued that a period of relaxed selection could occur when a founder population is in an open ecological niche, allowing rapid population growth after the founder event. Selectable genetic variation can actually increase during this founder-flush phase due to recombination, enhanced survival of advantageous mutations, and the conversion of non-additive genetic variance into additive variance in an epistatic system, another empirically confirmed prediction. Templeton combined the theories of Mayr and Carson with population genetic models to predict the conditions under which founder events can contribute to speciation, and these predictions are strongly confirmed by the empirical literature. Much of the criticism of founder speciation is based upon equating founder speciation to an adaptive peak shift opposed by selection. However, Mayr, Carson and Templeton all modeled a positive interaction of selection and drift, and Templeton showed that founder speciation is incompatible with peak-shift conditions. Although rare, founder speciation can have a disproportionate importance in adaptive innovation and radiation, and examples are given to show that "rare" does not mean "unimportant" in evolution. Founder speciation also interacts with other speciation mechanisms such that a speciation event is not a one-dimensional process due to either selection alone or drift alone. (c) 2008 Wiley Periodicals, Inc.

Traditional Jewish Learning: Philosophy and Practice.

ERIC Educational Resources Information Center

Pollak, Susan

Education was so much a part of Jewish thought and way of life that it was often taken for granted, e.g., the early sages never wrote an articulated plan for education principles and practices. The introduction to this overview of traditional Jewish education discusses the basic concepts of belief in the efficacy of education, the integration of…

Teachers' Study Guide: Jewish Legends. The Image of the Jew in Literature.

ERIC Educational Resources Information Center

Mersand, Joseph; Wiesel, Elie

The Jewish legends which are a major part of Jewish life and literature are the focus of this study guide for teachers. Excerpts from a lecture on Jewish legends are followed by suggestions for classroom activities, discussion topics related to the study of Jewish legends, and a bibliography for both teachers and students on Jewish legend and…

Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

PubMed

Raelson, John V; Little, Randall D; Ruether, Andreas; Fournier, Hélène; Paquin, Bruno; Van Eerdewegh, Paul; Bradley, W E C; Croteau, Pascal; Nguyen-Huu, Quynh; Segal, Jonathan; Debrus, Sophie; Allard, René; Rosenstiel, Philip; Franke, Andre; Jacobs, Gunnar; Nikolaus, Susanna; Vidal, Jean-Michel; Szego, Peter; Laplante, Nathalie; Clark, Hilary F; Paulussen, René J; Hooper, John W; Keith, Tim P; Belouchi, Abdelmajid; Schreiber, Stefan

2007-09-11

Genome-wide association (GWA) studies offer a powerful unbiased method for the identification of multiple susceptibility genes for complex diseases. Here we report the results of a GWA study for Crohn's disease (CD) using family trios from the Quebec Founder Population (QFP). Haplotype-based association analyses identified multiple regions associated with the disease that met the criteria for genome-wide significance, with many containing a gene whose function appears relevant to CD. A proportion of these were replicated in two independent German Caucasian samples, including the established CD loci NOD2 and IBD5. The recently described IL23R locus was also identified and replicated. For this region, multiple individuals with all major haplotypes in the QFP were sequenced and extensive fine mapping performed to identify risk and protective alleles. Several additional loci, including a region on 3p21 containing several plausible candidate genes, a region near JAKMIP1 on 4p16.1, and two larger regions on chromosome 17 were replicated. Together with previously published loci, the spectrum of CD genes identified to date involves biochemical networks that affect epithelial defense mechanisms, innate and adaptive immune response, and the repair or remodeling of tissue.

Experiential Jewish Education Has Arrived! Now What?

ERIC Educational Resources Information Center

Kress, Jeffrey S.

2014-01-01

Experiential Jewish education has been experiencing a time of growth, during which theory development, research, and practice have established a strong voice for the construct. Much of the focus to this point has been on definitions (particularly the distinction between "experiential" and "informal" Jewish education) and on…

Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations.

PubMed

Kopelman, Naama M; Stone, Lewi; Wang, Chaolong; Gefel, Dov; Feldman, Marcus W; Hillel, Jossi; Rosenberg, Noah A

2009-12-08

Genetic studies have often produced conflicting results on the question of whether distant Jewish populations in different geographic locations share greater genetic similarity to each other or instead, to nearby non-Jewish populations. We perform a genome-wide population-genetic study of Jewish populations, analyzing 678 autosomal microsatellite loci in 78 individuals from four Jewish groups together with similar data on 321 individuals from 12 non-Jewish Middle Eastern and European populations. We find that the Jewish populations show a high level of genetic similarity to each other, clustering together in several types of analysis of population structure. Further, Bayesian clustering, neighbor-joining trees, and multidimensional scaling place the Jewish populations as intermediate between the non-Jewish Middle Eastern and European populations. These results support the view that the Jewish populations largely share a common Middle Eastern ancestry and that over their history they have undergone varying degrees of admixture with non-Jewish populations of European descent.

Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations

PubMed Central

2009-01-01

Background Genetic studies have often produced conflicting results on the question of whether distant Jewish populations in different geographic locations share greater genetic similarity to each other or instead, to nearby non-Jewish populations. We perform a genome-wide population-genetic study of Jewish populations, analyzing 678 autosomal microsatellite loci in 78 individuals from four Jewish groups together with similar data on 321 individuals from 12 non-Jewish Middle Eastern and European populations. Results We find that the Jewish populations show a high level of genetic similarity to each other, clustering together in several types of analysis of population structure. Further, Bayesian clustering, neighbor-joining trees, and multidimensional scaling place the Jewish populations as intermediate between the non-Jewish Middle Eastern and European populations. Conclusion These results support the view that the Jewish populations largely share a common Middle Eastern ancestry and that over their history they have undergone varying degrees of admixture with non-Jewish populations of European descent. PMID:19995433

Intergenerational Challenges in Australian Jewish School Education

ERIC Educational Resources Information Center

Gross, Zehavit; Rutland, Suzanne D.

2014-01-01

The aim of this research is to investigate the intergenerational changes that have occurred in Australian Jewish day schools and the challenges these pose for religious and Jewish education. Using a grounded theory approach according to the constant comparative method (Strauss 1987), data from three sources (interviews [296], observations [27],…

Identification of Genetic Variation on the Horse Y Chromosome and the Tracing of Male Founder Lineages in Modern Breeds

PubMed Central

Wallner, Barbara; Vogl, Claus; Shukla, Priyank; Burgstaller, Joerg P.; Druml, Thomas; Brem, Gottfried

2013-01-01

The paternally inherited Y chromosome displays the population genetic history of males. While modern domestic horses (Equus caballus) exhibit abundant diversity within maternally inherited mitochondrial DNA, no significant Y-chromosomal sequence diversity has been detected. We used high throughput sequencing technology to identify the first polymorphic Y-chromosomal markers useful for tracing paternal lines. The nucleotide variability of the modern horse Y chromosome is extremely low, resulting in six haplotypes (HT), all clearly distinct from the Przewalski horse (E. przewalskii). The most widespread HT1 is ancestral and the other five haplotypes apparently arose on the background of HT1 by mutation or gene conversion after domestication. Two haplotypes (HT2 and HT3) are widely distributed at high frequencies among modern European horse breeds. Using pedigree information, we trace the distribution of Y-haplotype diversity to particular founders. The mutation leading to HT3 occurred in the germline of the famous English Thoroughbred stallion “Eclipse” or his son or grandson and its prevalence demonstrates the influence of this popular paternal line on modern sport horse breeds. The pervasive introgression of Thoroughbred stallions during the last 200 years to refine autochthonous breeds has strongly affected the distribution of Y-chromosomal variation in modern horse breeds and has led to the replacement of autochthonous Y chromosomes. Only a few northern European breeds bear unique variants at high frequencies or fixed within but not shared among breeds. Our Y-chromosomal data complement the well established mtDNA lineages and document the male side of the genetic history of modern horse breeds and breeding practices. PMID:23573227

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients.

PubMed

de Alencar, Dayse Oliveira; Netto, Cristina; Ashton-Prolla, Patricia; Giugliani, Roberto; Ribeiro-Dos-Santos, Ândrea; Pereira, Fernanda; Matte, Ursula; Santos, Ney; Santos, Sidney

2014-01-01

The Fabry disease is caused by mutations in the gene ( GLA ) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion ( GLA 30delG) was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the most likely source), six gene-flanking microsatellite markers of the X chromosome on the mutation carriers and their parents, 150 individuals from the same population and 300 individuals that compose the Brazilian parental populations (Europeans, Africans and Native Americans) were genotyped. A common haplotype to the four families was identified and characterized as founder. The age was estimated with two statistics software (DMLE 2.2 and ESTIAGE) that agreed with 11 to 12 generations old. This result indicates that the mutation GLA 30delG was originated from a single event on the X chromosome of a European immigrant, during the southern Brazil colonization between 1710 and 1740.

Human reproduction: Jewish perspectives.

PubMed

Schenker, Joseph G

2013-11-01

Developments in science and technology and corresponding clinical applications raise new religious questions, often without clear answers. The role of theology in bioethics is integral to clarify perceived attitudes toward these developments for different religious communities. The Jewish attitude towards procreation is derived from the first commandment of God to Adam to 'Be fruitful and multiply'. Judaism allows the practice of all techniques of assisted reproduction when the oocyte and spermatozoon originate from the wife and husband respectively. This paper presents the attitude of Jewish Law -- Halacha to therapeutic procedures, such as IVF-embryo transfer, spermatozoa, oocytes, embryo donation, cryopreservation of genetic material, surrogacy, posthumous reproduction, gender preselection, reproductive and therapeutic cloning.

Hitler's Jewish Physicians.

PubMed

Weisz, George M

2014-07-01

The mystery behind the behavior of infamous personalities leaves many open questions, particularly when related to the practice of medicine. This paper takes a brief look at two Jewish physicians who played memorable roles in the life of Adolf Hitler.

Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.

PubMed

Mojbafan, Marzieh; Tonekaboni, Seyed Hassan; Abiri, Maryam; Kianfar, Soudeh; Sarhadi, Ameneh; Nilipour, Yalda; Tavakkoly-Bazzaz, Javad; Zeinali, Sirous

2016-07-01

Calpainopathy is an autosomal recessive form of limb girdle muscular dystrophies which is caused by mutation in CAPN3 gene. In the present study, co-segregation of this disorder was analyzed with four short tandem repeat markers linked to the CAPN3 gene. Three apparently unrelated Iranian families with same ethnicity were investigated. Haplotype analysis and sequencing of the CAPN3 gene were performed. DNA sample from one of the patients was simultaneously sent for next-generation sequencing. DNA sequencing identified two mutations. It was seen as a homozygous c.2105C>T in exon 19 in one family, a homozygous novel mutation c.380G>A in exon 3 in another family, and a compound heterozygote form of these two mutations in the third family. Next-generation sequencing also confirmed our results. It was expected that, due to the rare nature of limb girdle muscular dystrophies, affected individuals from the same ethnic group share similar mutations. Haplotype analysis showed two different homozygote patterns in two families, yet a compound heterozygote pattern in the third family as seen in the mutation analysis. This study shows that haplotype analysis would help in determining presence of different founders.

Contributing Factors to Teacher Satisfaction for Jewish Day School Educators

ERIC Educational Resources Information Center

Lanner, Malka

2010-01-01

At a time of rising concern for hiring and retaining qualified Jewish educators, this study looked at factors contributing to the decision to enter or remain in the field of Jewish education. If Jewish day school administrators can determine what characteristics attract and retain qualified teachers then perhaps they can mitigate the current…

Efficient algorithms for polyploid haplotype phasing.

PubMed

He, Dan; Saha, Subrata; Finkers, Richard; Parida, Laxmi

2018-05-09

Inference of haplotypes, or the sequence of alleles along the same chromosomes, is a fundamental problem in genetics and is a key component for many analyses including admixture mapping, identifying regions of identity by descent and imputation. Haplotype phasing based on sequencing reads has attracted lots of attentions. Diploid haplotype phasing where the two haplotypes are complimentary have been studied extensively. In this work, we focused on Polyploid haplotype phasing where we aim to phase more than two haplotypes at the same time from sequencing data. The problem is much more complicated as the search space becomes much larger and the haplotypes do not need to be complimentary any more. We proposed two algorithms, (1) Poly-Harsh, a Gibbs Sampling based algorithm which alternatively samples haplotypes and the read assignments to minimize the mismatches between the reads and the phased haplotypes, (2) An efficient algorithm to concatenate haplotype blocks into contiguous haplotypes. Our experiments showed that our method is able to improve the quality of the phased haplotypes over the state-of-the-art methods. To our knowledge, our algorithm for haplotype blocks concatenation is the first algorithm that leverages the shared information across multiple individuals to construct contiguous haplotypes. Our experiments showed that it is both efficient and effective.

Variation analysis and gene annotation of eight MHC haplotypes: The MHC Haplotype Project

PubMed Central

Horton, Roger; Gibson, Richard; Coggill, Penny; Miretti, Marcos; Allcock, Richard J.; Almeida, Jeff; Forbes, Simon; Gilbert, James G. R.; Halls, Karen; Harrow, Jennifer L.; Hart, Elizabeth; Howe, Kevin; Jackson, David K.; Palmer, Sophie; Roberts, Anne N.; Sims, Sarah; Stewart, C. Andrew; Traherne, James A.; Trevanion, Steve; Wilming, Laurens; Rogers, Jane; de Jong, Pieter J.; Elliott, John F.; Sawcer, Stephen; Todd, John A.; Trowsdale, John

2008-01-01

The human major histocompatibility complex (MHC) is contained within about 4 Mb on the short arm of chromosome 6 and is recognised as the most variable region in the human genome. The primary aim of the MHC Haplotype Project was to provide a comprehensively annotated reference sequence of a single, human leukocyte antigen-homozygous MHC haplotype and to use it as a basis against which variations could be assessed from seven other similarly homozygous cell lines, representative of the most common MHC haplotypes in the European population. Comparison of the haplotype sequences, including four haplotypes not previously analysed, resulted in the identification of >44,000 variations, both substitutions and indels (insertions and deletions), which have been submitted to the dbSNP database. The gene annotation uncovered haplotype-specific differences and confirmed the presence of more than 300 loci, including over 160 protein-coding genes. Combined analysis of the variation and annotation datasets revealed 122 gene loci with coding substitutions of which 97 were non-synonymous. The haplotype (A3-B7-DR15; PGF cell line) designated as the new MHC reference sequence, has been incorporated into the human genome assembly (NCBI35 and subsequent builds), and constitutes the largest single-haplotype sequence of the human genome to date. The extensive variation and annotation data derived from the analysis of seven further haplotypes have been made publicly available and provide a framework and resource for future association studies of all MHC-associated diseases and transplant medicine. PMID:18193213

Teaching and Learning Jewish History in the 21st Century: New Priorities and Opportunities

ERIC Educational Resources Information Center

Jacobs, Benjamin M.

2018-01-01

New 21st-century circumstances in the Jewish world--including the changing nature of Jewish identification, the retreat from identity and continuity as singular aims of Jewish education, the democratization of Jewish learning opportunities, increased emphasis on informal and experiential Jewish education activities, and demonstrable interest among…

Jewish History Engagement in an Online Simulation: Golda and Coco, Leah and Lou at the Jewish Court of All Time

ERIC Educational Resources Information Center

Katz, Meredith L.; Kress, Jeffrey S.

2018-01-01

This study investigates the Jewish history engagement for middle school students "playing" in the Jewish Court of All Time (JCAT), an online simulation of a current events court case with historical roots (http://jcat.icsmich.org). Through an online platform across several schools, students research and play historical and current…

Weak D caused by a founder deletion in the RHD gene.

PubMed

Fichou, Yann; Chen, Jian-Min; Le Maréchal, Cédric; Jamet, Déborah; Dupont, Isabelle; Chuteau, Claude; Durousseau, Cécile; Loirat, Marie-Jeanne; Bailly, Pascal; Férec, Claude

2012-11-01

The RhD blood group system exemplifies a genotype-phenotype correlation by virtue of its highly polymorphic and immunogenic nature. Weak D phenotypes are generally thought to result from missense mutations leading to quantitative change of the D antigen in the red blood cell membrane or intracellularly. Different sets of polymerase chain reaction primers were designed to map and clone a deletion involving RHD Exon 10, which was found in approximately 3% of approximately 2000 RHD hemizygous subjects with D phenotype ambiguity. D antigen density was measured by flow cytometry. Transcript analysis was carried out by 3'-rapid amplification of complementary DNA ends. Haplotype analysis was performed by microsatellite genotyping. A 5405-bp deletion that removed nearly two-thirds of Intron 9 and almost all of Exon 10 of the RHD gene was characterized. It is predicted to result in the replacement of the last eight amino acids of the wild-type RhD protein by another four amino acids. The mean RhD antigen density from two deletion carriers was determined to be only 30. A consensus haplotype could be deduced from the deletion carriers based on the microsatellite genotyping data. The currently reported deletion was derived from a common founder. This deletion appears to represent not only the first large deletion associated with weak D but also the weakest of weak D alleles so far reported. This highly unusual genotype-phenotype relationship may be attributable to the additive effect of three distinct mechanisms that affect mRNA formation, mRNA stability, and RhD/ankyrin-R interaction, respectively. © 2012 American Association of Blood Banks.

Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR.

PubMed

Tyson, Jess; Armour, John A L

2012-12-11

Genotyping and massively-parallel sequencing projects result in a vast amount of diploid data that is only rarely resolved into its constituent haplotypes. It is nevertheless this phased information that is transmitted from one generation to the next and is most directly associated with biological function and the genetic causes of biological effects. Despite progress made in genome-wide sequencing and phasing algorithms and methods, problems assembling (and reconstructing linear haplotypes in) regions of repetitive DNA and structural variation remain. These dynamic and structurally complex regions are often poorly understood from a sequence point of view. Regions such as these that are highly similar in their sequence tend to be collapsed onto the genome assembly. This is turn means downstream determination of the true sequence haplotype in these regions poses a particular challenge. For structurally complex regions, a more focussed approach to assembling haplotypes may be required. In order to investigate reconstruction of spatial information at structurally complex regions, we have used an emulsion haplotype fusion PCR approach to reproducibly link sequences of up to 1kb in length to allow phasing of multiple variants from neighbouring loci, using allele-specific PCR and sequencing to detect the phase. By using emulsion systems linking flanking regions to amplicons within the CNV, this led to the reconstruction of a 59kb haplotype across the DEFA1A3 CNV in HapMap individuals. This study has demonstrated a novel use for emulsion haplotype fusion PCR in addressing the issue of reconstructing structural haplotypes at multiallelic copy variable regions, using the DEFA1A3 locus as an example.

Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR

PubMed Central

2012-01-01

Background Genotyping and massively-parallel sequencing projects result in a vast amount of diploid data that is only rarely resolved into its constituent haplotypes. It is nevertheless this phased information that is transmitted from one generation to the next and is most directly associated with biological function and the genetic causes of biological effects. Despite progress made in genome-wide sequencing and phasing algorithms and methods, problems assembling (and reconstructing linear haplotypes in) regions of repetitive DNA and structural variation remain. These dynamic and structurally complex regions are often poorly understood from a sequence point of view. Regions such as these that are highly similar in their sequence tend to be collapsed onto the genome assembly. This is turn means downstream determination of the true sequence haplotype in these regions poses a particular challenge. For structurally complex regions, a more focussed approach to assembling haplotypes may be required. Results In order to investigate reconstruction of spatial information at structurally complex regions, we have used an emulsion haplotype fusion PCR approach to reproducibly link sequences of up to 1kb in length to allow phasing of multiple variants from neighbouring loci, using allele-specific PCR and sequencing to detect the phase. By using emulsion systems linking flanking regions to amplicons within the CNV, this led to the reconstruction of a 59kb haplotype across the DEFA1A3 CNV in HapMap individuals. Conclusion This study has demonstrated a novel use for emulsion haplotype fusion PCR in addressing the issue of reconstructing structural haplotypes at multiallelic copy variable regions, using the DEFA1A3 locus as an example. PMID:23231411

Nonprofit Groups Offer Genetic Testing for Jewish Students

ERIC Educational Resources Information Center

Supiano, Beckie

2008-01-01

This article describes how nonprofit organizations like Hillel are offering free genetic testing for Jewish college students. A growing number of colleges, including Pittsburgh, Brandeis University, and Columbia University are offering students free or reduced-cost screenings for diseases common to Jewish population. Genetic diseases common to…

Bikkur Holim: the origins of Jewish pastoral care.

PubMed

Sheer, Charles

2008-01-01

This paper surveys classical Jewish texts--from the Hebrew Bible through Medieval codes--regarding the concept and practice of Bikkur Holim, literally, "the sick visit." How does this literature understand this ethical, religious act; who are the practitioners; what are their objectives? Although the Hebrew Bible does not contain a biblical precedent or legal mandate for Bikkur Holim, various categories of pastoral actions are traced in midrashic and talmudic texts. Their nuances are examined closely and a conceptualization of Jewish pastoral care is identified in a work by thirteenth century rabbi, jurist and physician, Nahmanides. Ezekiel 34 is proposed as the source for the rabbinic term, Bikkur Holim, as well as the conceptual understanding of Jewish pastoral care. Finally, the author posits various questions regarding the implication of his findings on the conduct of Jewish pastoral care, the value of spiritual assessment, and the nature of chaplaincy work in our various religious traditions.

Founders' Continuing Roles in Schools Supporting Self-Directed Learning

ERIC Educational Resources Information Center

Nash, Carol

2014-01-01

What should be the continuing role of founders in schools supporting self-directed learning? To answer this, the founders' views of two North American schools for self-directed learners will be compared. One school is exam-focused and private; the other is, test-free and public. The founders of both schools have comparable beliefs regarding the…

Demystifying a Black Box: A Grounded Theory of How Travel Experiences Impact the Jewish Identity Development of Jewish Emerging Adults

ERIC Educational Resources Information Center

Aaron, Scott

2015-01-01

The positive impact on the Jewish Identity Development of Jewish Emerging Adults of both the 10 day trips to Israel popularly known as Birthright trips and the service learning trips commonly known as Alternative Spring Breaks has been well-documented. However, the mechanics of how this positive impact occurs has not been well-understood. This…

[Complementary medicine--Jewish medical ethics].

PubMed

Katz, Yisrae; Schiff, Elad

2011-08-01

In Israel, as in the Western world, the use of different methods of complementary and alternative medicine ICAM) is spreading. CAM raises ethical questions of concern to healthcare providers and to the public: Can physicians recommend a treatment that has no scientific evidence? Should the government include such therapies in the health budget? Can complementary therapists receive protection against lawsuits if their treatment is recognized? The purpose of this article is to present a Jewish perspective on these issues. The fundamental sources that deal with the subject are based on the approach of rabbinic authorities toward unproven medicine, as expressed in the "Mishnah" and "Talmud" (200-500 C.E). The great Jewish scholar who discusses the subject in detail is Maimonides (1135-1204), who defines what "medicine" is and claims that medicine has to rely on reason or experience. Contemporary Jewish commentators present their position based on the interpretation of Maimonides' texts. In this article we claim that treatments can be divided into four groups, each group having a different halachic status: (1) Treatment that might be dangerous--should not be used. (2) Treatment that is safe--can be used, but has no other special status. (3) Treatment recognized by alternative therapists--has consequences for the observant Jew, such as laws of Kashrut and Shabbat. (4) Treatment that was tested and proven using modern medical methods has public significance--the therapist is entitled to legal defense if he made a reasonable mistake; the government can consider funding such treatment using public money. This article presents the Jewish halachic sources upon which we propose an ethical-practical approach to CAM.

Assisted reproductive technology: perspectives in Halakha (Jewish religious law).

PubMed

Schenker, Joseph G

2008-01-01

The Jewish religion is characterized by a strict association between faith and practical precepts. In principle, Jewish law has two divisions, the Written and the Oral traditions. The foundation of the Written Law and the origin of authority is the Torah, the first five books of the Scripture. This paper presents the attitude of Jewish religion to assisted reproductive therapeutic procedures such as IVF-embryo transfer, spermatozoa, oocytes, embryo donation, cryopreservation of genetic material, surrogacy, posthumous reproduction, gender preselection and reproductive and therapeutic cloning.

Haplotype-Based Genotyping in Polyploids.

PubMed

Clevenger, Josh P; Korani, Walid; Ozias-Akins, Peggy; Jackson, Scott

2018-01-01

Accurate identification of polymorphisms from sequence data is crucial to unlocking the potential of high throughput sequencing for genomics. Single nucleotide polymorphisms (SNPs) are difficult to accurately identify in polyploid crops due to the duplicative nature of polyploid genomes leading to low confidence in the true alignment of short reads. Implementing a haplotype-based method in contrasting subgenome-specific sequences leads to higher accuracy of SNP identification in polyploids. To test this method, a large-scale 48K SNP array (Axiom Arachis2) was developed for Arachis hypogaea (peanut), an allotetraploid, in which 1,674 haplotype-based SNPs were included. Results of the array show that 74% of the haplotype-based SNP markers could be validated, which is considerably higher than previous methods used for peanut. The haplotype method has been implemented in a standalone program, HAPLOSWEEP, which takes as input bam files and a vcf file and identifies haplotype-based markers. Haplotype discovery can be made within single reads or span paired reads, and can leverage long read technology by targeting any length of haplotype. Haplotype-based genotyping is applicable in all allopolyploid genomes and provides confidence in marker identification and in silico-based genotyping for polyploid genomics.

Gender Differences in Mathematics among Jewish and Arab Youth in Israel.

ERIC Educational Resources Information Center

Mittelberg, David; Ari, Lilach Lev

1997-01-01

Discusses gender differences in mathematics among Jewish and Arab youth in Israel by presenting research done in four Jewish and two Israeli Arab coeducational schools. Examines the factors that have influenced the degree to which high school students in the Jewish and Arab sectors anticipate making use of mathematically based professions in the…

78 FR 26215 - Jewish American Heritage Month, 2013

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-03

... American Heritage Month, 2013 By the President of the United States of America A Proclamation In his second... American shores. We take this month to celebrate the progress that followed, and the bright future that... May 2013 as Jewish American Heritage Month. I call upon all Americans to visit www.JewishHeritageMonth...

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

PubMed

Doucette, Lance; Green, Jane; Black, Coleman; Schwartzentruber, Jeremy; Johnson, Gordon J; Galutira, Dante; Young, Terry-Lynn

2013-09-01

Achromatopsia (ACHM) is a severe retinal disorder characterized by an inability to distinguish colors, impaired visual acuity, photophobia and nystagmus. This rare autosomal recessive disorder of the cone photoreceptors is best known for its increased frequency due to founder effect in the Pingelapese population of the Pacific islands. Sixteen patients from Newfoundland, Canada were sequenced for mutations in the four known achromatopsia genes CNGA3, CNGB3, GNAT2, and PDE6C. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). Haplotype reconstruction showed that recurrent mutations p.T383fsX and p.L527R were due to a founder effect. Aggregate data from exome sequencing, segregation analysis and archived medical records support a rediagnosis of Jalili syndrome in affected siblings (n = 4) from Family 0094, which to our knowledge is the first family identified with Jalili Syndrome in North America.

[Max Isserlin, Kantian orientation at Königsberg, psychotherapist with Kraepelin, founder of child psychiatry at Munich, emigrant to Britain].

PubMed

Peters, U H

2002-01-01

This account of the life and work of Max Isserlin (1879 - 1941) wants to be a reminder of a German-Jewish fate next to Kraepelin and as a forced emigrant. Immediately after his studies at Königsberg Isserlin in 1903 came to Kraepelin at Heidelberg, later he followed him to Munich. All his life he kept a Kantian orientation and defended Kraepelin's positions out of this background. Kraepelin entrusted to him all of psychotherapy, theory and practice, which Isserlin for at least 18 years gave courses of in Kraepelin's department. His textbook of psychotherapy thus transmissions Kraepelins convictions about this topic also. During World War I Isserlin was the head of a field-hospital for brain damaged soldiers and continued working this way after the end of the war. Finally he became the founder of child psychiatry in Munich, until he was forced to leave Germany for Britain with a heavy heart.

Jewish Identities in Action: An Exploration of Models, Metaphors, and Methods

ERIC Educational Resources Information Center

Charme, Stuart; Horowitz, Bethamie; Hyman, Tali; Kress, Jeffrey S.

2008-01-01

"Jewish identity" has been a central concern both in the realm of research about American Jewry and to American Jewish educational programming, but what it means and how to best study it have come under question in recent years. In this article, four scholars describe the ways they understand Jewish identity among American Jews and how they study…

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.

PubMed

Charoute, Hicham; Bakhchane, Amina; Benrahma, Houda; Romdhane, Lilia; Gabi, Khalid; Rouba, Hassan; Fakiri, Malika; Abdelhak, Sonia; Lenaers, Guy; Barakat, Abdelhamid

2015-11-01

The Mediterranean basin has been the theater of migration crossroads followed by settlement of several societies and cultures in prehistoric and historical times, with important consequences on genetic and genomic determinisms. Here, we present the Mediterranean Founder Mutation Database (MFMD), established to offer web-based access to founder mutation information in the Mediterranean population. Mutation data were collected from the literature and other online resources and systematically reviewed and assembled into this database. The information provided for each founder mutation includes DNA change, amino-acid change, mutation type and mutation effect, as well as mutation frequency and coalescence time when available. Currently, the database contains 383 founder mutations found in 210 genes related to 219 diseases. We believe that MFMD will help scientists and physicians to design more rapid and less expensive genetic diagnostic tests. Moreover, the coalescence time of founder mutations gives an overview about the migration history of the Mediterranean population. MFMD can be publicly accessed from http://mfmd.pasteur.ma. © 2015 WILEY PERIODICALS, INC.

Genetic consequences of sequential founder events by an island-colonizing bird.

PubMed

Clegg, Sonya M; Degnan, Sandie M; Kikkawa, Jiro; Moritz, Craig; Estoup, Arnaud; Owens, Ian P F

2002-06-11

The importance of founder events in promoting evolutionary changes on islands has been a subject of long-running controversy. Resolution of this debate has been hindered by a lack of empirical evidence from naturally founded island populations. Here we undertake a genetic analysis of a series of historically documented, natural colonization events by the silvereye species-complex (Zosterops lateralis), a group used to illustrate the process of island colonization in the original founder effect model. Our results indicate that single founder events do not affect levels of heterozygosity or allelic diversity, nor do they result in immediate genetic differentiation between populations. Instead, four to five successive founder events are required before indices of diversity and divergence approach that seen in evolutionarily old forms. A Bayesian analysis based on computer simulation allows inferences to be made on the number of effective founders and indicates that founder effects are weak because island populations are established from relatively large flocks. Indeed, statistical support for a founder event model was not significantly higher than for a gradual-drift model for all recently colonized islands. Taken together, these results suggest that single colonization events in this species complex are rarely accompanied by severe founder effects, and multiple founder events and/or long-term genetic drift have been of greater consequence for neutral genetic diversity.

Extermination of the Jewish mentally-ill during the Nazi era--the "doubly cursed".

PubMed

Strous, Rael

2008-01-01

In Nazi Germany, physicians initiated a program of sterilization and euthanasia directed at the mentally-ill and physically disabled. Relatively little is known regarding the fate of the Jewish mentally-ill. Jewish mentally-ill were definitely included and targeted and were among the first who fell victim. They were systematically murdered following transfer as a specialized group, as well as killed in the general euthanasia program along with non-Jewish mentally ill. Their murder constituted an important link between euthanasia and the Final Solution. The targeting of the Jewish mentally-ill was comprised of four processes including public assistance withdrawal, hospital treatment limitations, sterilization and murder. Jewish "patients" became indiscriminate victims not only on the basis of psychiatric diagnosis, but also on the basis of race. The killing was efficiently coordinated with assembly in collection centers prior to being transferred to their deaths. The process included deceiving Jewish patients' family members and caregivers in order to extract financial support long after patients had been killed. Jewish patients were targeted since they were helpless and considered the embodiment of evil. Since nobody stood up for the Jews, the Nazis could treat the Jewish patients as they saw fit. Several differences existed between euthanasia of Jews and non-Jews, among which the Jewish mentally-ill were killed regardless of work ability, hospitalization length or illness severity. Furthermore, there was discrimination in the process leading up to killing (overcrowding, less food). For the Nazis, Jewish mentally-ill patients were unique among victims in that they embodied both "hazardous genes" and "racial toxins." For many years there has been silence relating to the fate of the Jewish mentally-ill. This deserves to be corrected.

The Groningen Protocol - the Jewish perspective.

PubMed

Gesundheit, Benjamin; Steinberg, Avraham; Blazer, Shraga; Jotkowitz, Alan

2009-01-01

Despite significant advances in neonatology, there will always be newborns with serious life-threatening conditions creating most difficult bioethical dilemmas. Active euthanasia for adult patients is one of the most controversial bioethical questions; for severely ill neonates, the issue is even more complex, due to their inability to take part in any decision concerning their future. The Groningen Protocol introduced in 2005 by P.J. Sauer proposes criteria allowing active euthanasia for severely ill, not necessarily terminal, newborns with incurable conditions and poor quality of life in order to spare them unbearable suffering. We discuss the ethical dilemma and ideological foundations of the protocol, the opinions of its defenders and critics, and the dangers involved. The Jewish perspective relating to the subject is presented based on classical Jewish sources, which we trust may enrich modern bioethical debates. In Jewish law, the fetus acquires full legal status only after birth. However, while the lives of terminally ill neonates must in no way be actively destroyed or shortened, there is no obligation to make extraordinary efforts to prolong their lives. Accurate preimplantation or prenatal diagnosis might significantly reduce the incidence of nonviable births, but active killing of infants violates the basic foundations of Jewish law, and opens the 'slippery slope' for uncontrolled abuse. Therefore, we call upon the international medical and bioethical community to reject the Groningen Protocol that permits euthanization and to develop ethical guidelines for the optimal care of severely compromised neonates. Copyright 2009 S. Karger AG, Basel.

The split of the Arara population: comparison of genetic drift and founder effect.

PubMed

Ribeiro-dos-Santos, A K; Guerreiro, J F; Santos, S E; Zago, M A

2001-01-01

The total genetic diversity of the Amerindian population is as high as that observed for other continental human populations because a large contribution from variation among tribes makes up for the low variation within tribes. This is attributed mainly to genetic drift acting on small isolated populations. However, a small founder population with a low genetic diversity is another factor that may contribute to the low intratribal diversity. Small founder populations seem to be a frequent event in the formation of new tribes among the Amerindians, but this event is usually not well recorded. In this paper, we analyze the genetic diversity of the Arara of Laranjal village and the Arara of Iriri village, with respect to seven tandem repeat autosomic segments (D1S80, ApoB, D4S43, vW1, vW2, F13A1 and D12S67), two Y-chromosome-specific polymorphisms (DYS19 and DYS199), and mitochondrial DNA (mtDNA) markers (restriction fragment length polymorphisms and sequencing of a segment of the D loop region). The occurrence of a single Y chromosome and mtDNA haplotype, and only 1-4 alleles of the autosomic loci investigated, corroborates historic and demographic records that the Arara of Iriri were founded by a single couple of siblings who came from the Arara of Laranjal, the largest group. Notwithstanding this fact, the genetic distance and the molecular variance between the two Arara villages were greater than those observed between them and other Amazonian tribes, suggesting that the microevolutionary process among Brazilian Amerindians may be misinterpreted if historic demographic data are not considered. Copyright 2000 S. Karger AG, Basel.

Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry.

PubMed

Manchanda, Ranjit; Patel, Shreeya; Antoniou, Antonis C; Levy-Lahad, Ephrat; Turnbull, Clare; Evans, D Gareth; Hopper, John L; Macinnis, Robert J; Menon, Usha; Jacobs, Ian; Legood, Rosa

2017-11-01

Population-based BRCA1/BRCA2 testing has been found to be cost-effective compared with family history-based testing in Ashkenazi-Jewish women were >30 years old with 4 Ashkenazi-Jewish grandparents. However, individuals may have 1, 2, or 3 Ashkenazi-Jewish grandparents, and cost-effectiveness data are lacking at these lower BRCA prevalence estimates. We present an updated cost-effectiveness analysis of population BRCA1/BRCA2 testing for women with 1, 2, and 3 Ashkenazi-Jewish grandparents. Decision analysis model. Lifetime costs and effects of population and family history-based testing were compared with the use of a decision analysis model. 56% BRCA carriers are missed by family history criteria alone. Analyses were conducted for United Kingdom and United States populations. Model parameters were obtained from the Genetic Cancer Prediction through Population Screening trial and published literature. Model parameters and BRCA population prevalence for individuals with 3, 2, or 1 Ashkenazi-Jewish grandparent were adjusted for the relative frequency of BRCA mutations in the Ashkenazi-Jewish and general populations. Incremental cost-effectiveness ratios were calculated for all Ashkenazi-Jewish grandparent scenarios. Costs, along with outcomes, were discounted at 3.5%. The time horizon of the analysis is "life-time," and perspective is "payer." Probabilistic sensitivity analysis evaluated model uncertainty. Population testing for BRCA mutations is cost-saving in Ashkenazi-Jewish women with 2, 3, or 4 grandparents (22-33 days life-gained) in the United Kingdom and 1, 2, 3, or 4 grandparents (12-26 days life-gained) in the United States populations, respectively. It is also extremely cost-effective in women in the United Kingdom with just 1 Ashkenazi-Jewish grandparent with an incremental cost-effectiveness ratio of £863 per quality-adjusted life-years and 15 days life gained. Results show that population-testing remains cost-effective at the £20,000-30000 per quality

Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

PubMed

Tüysüz, Beyhan; Bayrakli, Fatih; DiLuna, Michael L; Bilguvar, Kaya; Bayri, Yasar; Yalcinkaya, Cengiz; Bursali, Aysegul; Ozdamar, Elif; Korkmaz, Baris; Mason, Christopher E; Ozturk, Ali K; Lifton, Richard P; State, Matthew W; Gunel, Murat

2008-05-01

Hereditary sensory and autonomic neuropathy type IV (HSAN IV), or congenital insensitivity to pain with anhidrosis, is an autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis from deinnervated sweat glands, and delayed mental and motor development. Mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1), a receptor in the neurotrophin signaling pathway phosphorylated in response to nerve growth factor, are associated with this disorder. We identified six families from Northern Central Turkey with HSAN IV. We screened the NTRK1 gene for mutations in these families. Microsatellite and single nucleotide polymorphism (SNP) markers on the Affymetrix 250K chip platform were used to determine the haplotypes for three families harboring the same mutation. Screening for mutations in the NTRK1 gene demonstrated one novel frameshift mutation, two novel nonsense mutations, and three unrelated kindreds with the same splice-site mutation. Genotyping of the three families with the identical splice-site mutation revealed that they share the same haplotype. This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population.

The Jewish child, adolescent, and family.

PubMed

Rube, David M; Kibel, Rabbi Nechemiah

2004-01-01

This brief review addresses the history, beliefs, and practices of Jewish families that have implications for clinical management of the problems and disorders of children and adolescents. It focuses primarily on the problems of the Orthodox family due, in part, to the limitations of space. There remains, however, little doubt that the clinician must be aware of the impact that Jewish heritage may have on the clinical issues at hand. This impact is significant whether the worldview of the family is characterized by strict Orthodoxy or is primarily that of an ethnic identification with less concern for belief and practice.

Hitler’s Jewish Physicians

PubMed Central

Weisz, George M.

2014-01-01

The mystery behind the behavior of infamous personalities leaves many open questions, particularly when related to the practice of medicine. This paper takes a brief look at two Jewish physicians who played memorable roles in the life of Adolf Hitler. PMID:25120923

Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?

PubMed

Lannoy, N; Lambert, C; Vikkula, M; Hermans, C

2015-06-01

Roughly 40% of observed mutations responsible for hemophilia A (HA) are novel and present in either a single family or a limited number of unrelated families. During routine diagnostic analysis of 73 unrelated Belgian patients with mild HA, 4 out of 43 different mutations (p.Ser2030Asn, p.Arg2178Cys, p.Arg2178His, and p.Pro2311His) were detected in more than one family, representing 35% of total identified mutations. To discriminate between an independent recurrence or a founder effect, an analysis of intra- and -extragenic single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs) flanking the F8 gene was conducted. SNP haplotype and microsatellite analysis revealed strong evidence that p.Ser2030Asn and p.Pro2311His mutations were probably associated with a founder effect. The two other mutations localized in an F8 cytosine-phosphate-guanine (CpG) site likely resulted from recurrent de novo events. This study suggests that missense mutations producing C-to-T or G-to-A substitutions in CpG dinucleotide can occur de novo with more repetition than other causal substitutions that do not affect the CpG site. Analysis of F8 database implied that CpG sites throughout the F8 gene are not all mutated with the same frequency. Causes are still unknown and remain to be identified. Copyright © 2015 Elsevier Ltd. All rights reserved.

[Construction of haplotype and haplotype block based on tag single nucleotide polymorphisms and their applications in association studies].

PubMed

Gu, Ming-liang; Chu, Jia-you

2007-12-01

Human genome has structures of haplotype and haplotype block which provide valuable information on human evolutionary history and may lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to complex diseases. Haplotype block can be divided into discrete blocks of limited haplotype diversity. In each block, a small fraction of ptag SNPsq can be used to distinguish a large fraction of the haplotypes. These tag SNPs can be potentially useful for construction of haplotype and haplotype block, and association studies in complex diseases. There are two general classes of methods to construct haplotype and haplotype blocks based on genotypes on large pedigrees and statistical algorithms respectively. The author evaluate several construction methods to assess the power of different association tests with a variety of disease models and block-partitioning criteria. The advantages, limitations and applications of each method and the application in the association studies are discussed equitably. With the completion of the HapMap and development of statistical algorithms for addressing haplotype reconstruction, ideas of construction of haplotype based on combination of mathematics, physics, and computer science etc will have profound impacts on population genetics, location and cloning for susceptible genes in complex diseases, and related domain with life science etc.

Practitioners and Practices in Museum Education: The Case of Three Jewish Museums

ERIC Educational Resources Information Center

Moghadam, Yaara Shteinhart

2011-01-01

As Jewish museums are witnessing a rapid numerical rise in the United States and beyond, the professional and academic literature on Jewish museum education lags behind. This dissertation is aimed to help narrow this gap by examining how the education departments of Jewish museums in the United States conceptualize, promote, and conduct programs…

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

PubMed

Ben Rekaya, Mariem; Laroussi, Nadia; Messaoud, Olfa; Jones, Mariem; Jerbi, Manel; Naouali, Chokri; Bouyacoub, Yosra; Chargui, Mariem; Kefi, Rym; Fazaa, Becima; Boubaker, Mohamed Samir; Boussen, Hamouda; Mokni, Mourad; Abdelhak, Sonia; Zghal, Mohamed; Khaled, Aida; Yacoub-Youssef, Houda

2014-01-01

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa.

A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

PubMed Central

Ben Rekaya, Mariem; Laroussi, Nadia; Messaoud, Olfa; Jones, Mariem; Jerbi, Manel; Bouyacoub, Yosra; Chargui, Mariem; Kefi, Rym; Fazaa, Becima; Boubaker, Mohamed Samir; Boussen, Hamouda; Mokni, Mourad; Abdelhak, Sonia; Zghal, Mohamed; Khaled, Aida; Yacoub-Youssef, Houda

2014-01-01

Xeroderma pigmentosum Variant (XP-V) form is characterized by a late onset of skin symptoms. Our aim is the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that this mutation POLH NG_009252.1: g.36847_40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-V patients. In Tunisia, the prevalence of XP-V group seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa. PMID:24877075

Princeton Tries To Explain a Drop in Jewish Enrollment.

ERIC Educational Resources Information Center

Gose, Ben

1999-01-01

The proportion of Princeton University (New Jersey) freshmen who identify themselves as Jewish is half what it was in 1973, and the proportion of Jewish Princeton students overall is less than half that of Harvard University (Massachusetts) or Yale University (Connecticut). Some fault recruitment strategy changes; others believe fewer Jewish…

The vocal load of Reform Jewish cantors in the USA.

PubMed

Hapner, Edie; Gilman, Marina

2012-03-01

Jewish cantors comprise a subset of vocal professionals that is not well understood by vocal health professionals. This study aimed to document the vocal demands, vocal training, reported incidence of voice problems, and treatment-seeking behavior of Reform Jewish cantors. The study used a prospective observational design to anonymously query Reform Jewish cantors using a 35-item multiple-choice survey distributed online. Demographic information, medical history, vocal music training, cantorial duties, history of voice problems, and treatment-seeking behavior were addressed. Results indicated that many of the commonly associated risk factors for developing voice disorders were present in this population, including high vocal demands, reduced vocal downtime, allergies, and acid reflux. Greater than 65% of the respondents reported having had a voice problem that interfered with their ability to perform their duties at some time during their careers. Reform Jewish cantors are a population of occupational voice users who may be currently unidentified and underserved by vocal health professionals. The results of the survey suggest that Reform Jewish cantors are occupational voice users and are at high risk for developing voice disorders. Copyright © 2012 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

Medical mall founders' satisfaction and integrated management requirements

PubMed Central

2016-01-01

Summary Medical malls help provide integrated medical services and the effective and efficient independent management of multiple clinics, pharmacies and other medical facilities. Primary care in an aging society is a key issue worldwide and the establishment of a new model for primary care in Japanese medical malls is needed. Understanding the requirements of integrated management that contribute to the improvement of medical mall founders' satisfaction levels will help provide better services. We conducted a questionnaire survey targeting 1840 medical facilities nationwide; 351 facilities responded (19.1%). We performed comparative analyses on founders' satisfaction levels according to years in business, department/area, founder's relationship, decision‐making system and presence/absence of liaison role. A total of 70% of medical malls in Japan have adjacent relationships with no liaison role in most cases; however, 60% of founders are satisfied. Integrated management requirements involve establishing the mall with peers from the same medical office unit or hospital, and establishing a system in which all founders can participate in decision‐making (council system) or one where each general practitioner (GP) independently runs a clinic without communicating with others. The council system can ensure the capability of general practitioners to treat many primary care patients in the future. © 2016 The Authors. The International Journal of Health Planning and Management Published by John Wiley & Sons Ltd PMID:27218206

Embracing Jewish Day School Education in England, 1965-1979

ERIC Educational Resources Information Center

Mendelsson, David

2009-01-01

Between 1965 and 1979 the demand for places at Jewish day schools in England rose dramatically. In the preceding decades, most parents sent their children to state non-denominational schools, showing little interest in providing their children with a solid Jewish education. Sunday or after-school Hebrew classes, rarely extending beyond Bar/Bat…

The Gender Question and the Study of Jewish Children

ERIC Educational Resources Information Center

Charme, Stuart Z.

2006-01-01

Although some researchers argue that a generation of feminist innovations and changes in American Jewish life has produced an egalitarian generation in which gender differences among Jewish children and adolescents are insignificant, this article argues that the salience of gender differences is a factor of the kinds of questions that children are…

Performing Identities in the Classroom: Teaching Jewish Women's Studies

ERIC Educational Resources Information Center

Friedman, Kathie; Rosenberg, Karen

2007-01-01

Teaching about intersecting, fluid and historically contingent identities has been taken up extensively within the sociology of race, class and gender and women's studies. Oddly, the case of Jewish women has been virtually left out of this robust literature. This article explores the challenges raised through teaching the course "Jewish Women in…

Beyond Questioning: Inquiry Strategies and Cognitive and Affective Elements of Jewish Education

ERIC Educational Resources Information Center

Sigel, Irving E.; Kress, Jeffrey S.; Elias, Maurice J.

2007-01-01

Questioning-asking has not only long been seen as a central component of Jewish educational practice but has also been thought to be part of a broader culture of Judaism. In this article, we apply cognitive-developmental theories to advance the discussion of the use of questioning in Jewish education. Such theories allow Jewish educators to more…

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

PubMed Central

Rivas, Manuel A.; Avila, Brandon E.; Koskela, Jukka; Stevens, Christine; Pirinen, Matti; Neale, Benjamin M.; Ganna, Andrea; Graham, Daniel; Glaser, Benjamin; Peter, Inga; Atzmon, Gil; Barzilai, Nir; Levine, Adam P.; Schiff, Elena; Weisburd, Ben; Lek, Monkol; Bloom, Jonathan; Minikel, Eric V.; Petersen, Britt-Sabina; Beaugerie, Laurent; Seksik, Philippe; Cosnes, Jacques; Schreiber, Stefan; Bokemeyer, Bernd; Bethge, Johannes; Ahmad, Tariq; Plagnol, Vincent; Segal, Anthony W.; Targan, Stephan; Turner, Dan; Saavalainen, Paivi; Farkkila, Martti; Kontula, Kimmo; Palotie, Aarno; Brant, Steven R.; Duerr, Richard H.; Silverberg, Mark S.; Weersma, Rinse K.; Franke, Andre; Jostins, Luke; Barrett, Jeffrey C.; MacArthur, Daniel G.; Jalas, Chaim; Sokol, Harry; Xavier, Ramnik J.; Pulver, Ann; Cho, Judy H.; McGovern, Dermot P. B.; Daly, Mark J.

2018-01-01

As part of a broader collaborative network of exome sequencing studies, we developed a jointly called data set of 5,685 Ashkenazi Jewish exomes. We make publicly available a resource of site and allele frequencies, which should serve as a reference for medical genetics in the Ashkenazim (hosted in part at https://ibd.broadinstitute.org, also available in gnomAD at http://gnomad.broadinstitute.org). We estimate that 34% of protein-coding alleles present in the Ashkenazi Jewish population at frequencies greater than 0.2% are significantly more frequent (mean 15-fold) than their maximum frequency observed in other reference populations. Arising via a well-described founder effect approximately 30 generations ago, this catalog of enriched alleles can contribute to differences in genetic risk and overall prevalence of diseases between populations. As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10–100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment). We next sought to use this catalog, of well-established relevance to Mendelian disease, to explore Crohn's disease, a common disease with an estimated two to four-fold excess prevalence in AJ. We specifically attempt to evaluate whether strong acting rare alleles, particularly protein-truncating or otherwise large effect-size alleles, enriched by the same founder-effect, contribute excess genetic risk to Crohn's disease in AJ, and find that ten rare genetic risk factors in NOD2 and LRRK2 are enriched in AJ (p < 0.005), including several novel

Population Structure With Localized Haplotype Clusters

PubMed Central

Browning, Sharon R.; Weir, Bruce S.

2010-01-01

We propose a multilocus version of FST and a measure of haplotype diversity using localized haplotype clusters. Specifically, we use haplotype clusters identified with BEAGLE, which is a program implementing a hidden Markov model for localized haplotype clustering and performing several functions including inference of haplotype phase. We apply this methodology to HapMap phase 3 data. With this haplotype-cluster approach, African populations have highest diversity and lowest divergence from the ancestral population, East Asian populations have lowest diversity and highest divergence, and other populations (European, Indian, and Mexican) have intermediate levels of diversity and divergence. These relationships accord with expectation based on other studies and accepted models of human history. In contrast, the population-specific FST estimates obtained directly from single-nucleotide polymorphisms (SNPs) do not reflect such expected relationships. We show that ascertainment bias of SNPs has less impact on the proposed haplotype-cluster-based FST than on the SNP-based version, which provides a potential explanation for these results. Thus, these new measures of FST and haplotype-cluster diversity provide an important new tool for population genetic analysis of high-density SNP data. PMID:20457877

TUMOR HAPLOTYPE ASSEMBLY ALGORITHMS FOR CANCER GENOMICS

PubMed Central

AGUIAR, DEREK; WONG, WENDY S.W.; ISTRAIL, SORIN

2014-01-01

The growing availability of inexpensive high-throughput sequence data is enabling researchers to sequence tumor populations within a single individual at high coverage. But, cancer genome sequence evolution and mutational phenomena like driver mutations and gene fusions are difficult to investigate without first reconstructing tumor haplotype sequences. Haplotype assembly of single individual tumor populations is an exceedingly difficult task complicated by tumor haplotype heterogeneity, tumor or normal cell sequence contamination, polyploidy, and complex patterns of variation. While computational and experimental haplotype phasing of diploid genomes has seen much progress in recent years, haplotype assembly in cancer genomes remains uncharted territory. In this work, we describe HapCompass-Tumor a computational modeling and algorithmic framework for haplotype assembly of copy number variable cancer genomes containing haplotypes at different frequencies and complex variation. We extend our polyploid haplotype assembly model and present novel algorithms for (1) complex variations, including copy number changes, as varying numbers of disjoint paths in an associated graph, (2) variable haplotype frequencies and contamination, and (3) computation of tumor haplotypes using simple cycles of the compass graph which constrain the space of haplotype assembly solutions. The model and algorithm are implemented in the software package HapCompass-Tumor which is available for download from http://www.brown.edu/Research/Istrail_Lab/. PMID:24297529

Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

PubMed Central

2011-01-01

About 5-10% of breast and ovarian carcinomas are hereditary and most of these result from germline mutations in the BRCA1 and BRCA2 genes. In women of Ashkenazi Jewish ascendance, up to 30% of breast and ovarian carcinomas may be attributable to mutations in these genes, where 3 founder mutations, c.68_69del (185delAG) and c.5266dup (5382insC) in BRCA1 and c.5946del (6174delT) in BRCA2, are commonly encountered. It has been suggested by some authors that screening for founder mutations should be undertaken in all Brazilian women with breast cancer. Thus, the goal of this study was to determine the prevalence of three founder mutations, commonly identified in Ashkenazi individuals in a sample of non-Ashkenazi cancer-affected Brazilian women with clearly defined risk factors for hereditary breast and ovarian cancer (HBOC) syndrome. Among 137 unrelated Brazilian women from HBOC families, the BRCA1c.5266dup mutation was identified in seven individuals (5%). This prevalence is similar to that encountered in non-Ashkenazi HBOC families in other populations. However, among patients with bilateral breast cancer, the frequency of c.5266dup was significantly higher when compared to patients with unilateral breast tumors (12.1% vs 1.2%, p = 0.023). The BRCA1 c.68_69del and BRCA2 c.5946del mutations did not occur in this sample. We conclude that screening non-Ashkenazi breast cancer-affected women from the ethnically heterogeneous Brazilian populations for the BRCA1 c.68_69del and BRCA2 c.5946del is not justified, and that screening for BRCA1c.5266dup should be considered in high risk patients, given its prevalence as a single mutation. In high-risk patients, a negative screening result should always be followed by comprehensive BRCA gene testing. The finding of a significantly higher frequency of BRCA1 c.5266dup in women with bilateral breast cancer, as well as existence of other as yet unidentified founder mutations in this population, should be further assessed in a larger

Characterization of Founder Viruses in Very Early SIV Rectal Transmission

PubMed Central

Yuan, Zhe; Ma, Fangrui; Demers, Andrew J.; Wang, Dong; Xu, Jianqing; Lewis, Mark G.; Li, Qingsheng

2016-01-01

A better understanding of HIV-1 transmission is critical for developing preventative strategies. To that end, we analyzed 524 full-length env sequences of SIVmac251 at 6 and 10 days post intrarectal infection of rhesus macaques. There was no tissue compartmentalization of founder viruses across plasma, rectal and distal lymphatic tissues for most animals; however one animal has evidence of virus tissue compartmentalization. Despite identical viral inoculums, founder viruses were animal-specific, primarily derived from rare variants in the inoculum, and have a founder virus signature that can distinguish dominant founder variants from minor founder or untransmitted variants in the inoculum. Importantly, the sequences of post-transmission defective viruses were phylogenetically associated with competent viral variants in the inoculum and were mainly converted from competent viral variants by frameshift rather than APOBEC mediated mutations, suggesting the converting the transmitted viruses into defective viruses through frameshift mutation is an important component of rectal transmission bottleneck. PMID:28027479

Jewish Medical Students and Graduates at the Universities of Padua and Leiden: 1617–1740*

PubMed Central

Collins, Kenneth

2013-01-01

The first Jewish medical graduates at the University of Padua qualified in the fifteenth century. Indeed, Padua was the only medical school in Europe for most of the medieval period where Jewish students could study freely. Though Jewish students came to Padua from many parts of Europe the main geographical sources of its Jewish students were the Venetian lands. However, the virtual Padua monopoly on Jewish medical education came to an end during the seventeenth century as the reputation of the Dutch medical school in Leiden grew. For aspiring medieval Jewish physicians Padua was, for around three hundred years, the first, simplest, and usually the only choice. PMID:23908853

How They Teach the Holocaust in Jewish Day Schools

ERIC Educational Resources Information Center

Ellison, Jeffrey Alan

2017-01-01

Though Holocaust education is of critical importance in the world of Jewish Day Schools, little research has been conducted about it. The purpose of this paper is to answer some critical questions about how they teach the Holocaust in Jewish Day Schools--the who, what, when, where, how, and why questions. Additionally, comparisons are made between…

Mapping a New Spontaneous Preterm Birth Susceptibility Gene, IGF1R, Using Linkage, Haplotype Sharing, and Association Analysis

PubMed Central

Luukkonen, Aino; Teramo, Kari; Puttonen, Hilkka; Ojaniemi, Marja; Varilo, Teppo; Chaudhari, Bimal P.; Plunkett, Jevon; Murray, Jeffrey C.; McCarroll, Steven A.; Muglia, Louis J.; Palotie, Aarno; Hallman, Mikko

2011-01-01

Preterm birth is the major cause of neonatal death and serious morbidity. Most preterm births are due to spontaneous onset of labor without a known cause or effective prevention. Both maternal and fetal genomes influence the predisposition to spontaneous preterm birth (SPTB), but the susceptibility loci remain to be defined. We utilized a combination of unique population structures, family-based linkage analysis, and subsequent case-control association to identify a susceptibility haplotype for SPTB. Clinically well-characterized SPTB families from northern Finland, a subisolate founded by a relatively small founder population that has subsequently experienced a number of bottlenecks, were selected for the initial discovery sample. Genome-wide linkage analysis using a high-density single-nucleotide polymorphism (SNP) array in seven large northern Finnish non-consanginous families identified a locus on 15q26.3 (HLOD 4.68). This region contains the IGF1R gene, which encodes the type 1 insulin-like growth factor receptor IGF-1R. Haplotype segregation analysis revealed that a 55 kb 12-SNP core segment within the IGF1R gene was shared identical-by-state (IBS) in five families. A follow-up case-control study in an independent sample representing the more general Finnish population showed an association of a 6-SNP IGF1R haplotype with SPTB in the fetuses, providing further evidence for IGF1R as a SPTB predisposition gene (frequency in cases versus controls 0.11 versus 0.05, P = 0.001, odds ratio 2.3). This study demonstrates the identification of a predisposing, low-frequency haplotype in a multifactorial trait using a well-characterized population and a combination of family and case-control designs. Our findings support the identification of the novel susceptibility gene IGF1R for predisposition by the fetal genome to being born preterm. PMID:21304894

Medical mall founders' satisfaction and integrated management requirements.

PubMed

Ito, Atsushi

2017-10-01

Medical malls help provide integrated medical services and the effective and efficient independent management of multiple clinics, pharmacies and other medical facilities. Primary care in an aging society is a key issue worldwide and the establishment of a new model for primary care in Japanese medical malls is needed. Understanding the requirements of integrated management that contribute to the improvement of medical mall founders' satisfaction levels will help provide better services. We conducted a questionnaire survey targeting 1840 medical facilities nationwide; 351 facilities responded (19.1%). We performed comparative analyses on founders' satisfaction levels according to years in business, department/area, founder's relationship, decision-making system and presence/absence of liaison role. A total of 70% of medical malls in Japan have adjacent relationships with no liaison role in most cases; however, 60% of founders are satisfied. Integrated management requirements involve establishing the mall with peers from the same medical office unit or hospital, and establishing a system in which all founders can participate in decision-making (council system) or one where each general practitioner (GP) independently runs a clinic without communicating with others. The council system can ensure the capability of general practitioners to treat many primary care patients in the future. © 2016 The Authors. The International Journal of Health Planning and Management Published by John Wiley & Sons Ltd. © 2016 The Authors. The International Journal of Health Planning and Management Published by John Wiley & Sons Ltd.

"Shalom Sesame": Using Media to Promote Jewish Education and Identity

ERIC Educational Resources Information Center

Fisch, Shalom M.; Lemish, Dafna; Spezia, Elizabeth; Siegel, Deborah; Fisch, Susan R. D.; Aladé, Fashina; Kasdan, Daniel

2013-01-01

A family survey, ethnographic study, and quasi-experimental study investigated "Shalom Sesame's" potential to enhance understanding of Jewish culture and identity among preschool families. Preschoolers demonstrated significant learning, recognizing that people who looked different could be Jewish, and in knowledge about Hebrew words,…

March of the living, a holocaust educational tour: effect on adolescent Jewish identity.

PubMed

Nager, Alan L; Pham, Phung; Gold, Jeffrey I

2013-12-01

March of the Living (MOTL) is a worldwide two-week trip for high school seniors to learn about the Holocaust by traveling to sites of concentration/death camps and Jewish historical sites in Poland and Israel. The mission statement of MOTL International states that participants will be able to "bolster their Jewish identity by acquainting them with the rich Jewish heritage in pre-war Eastern Europe." However, this claim has never been studied quantitatively. Therefore, 152 adolescents who participated in MOTL voluntarily completed an initial background questionnaire, a Jewish Identity Survey and a Global Domains Survey pre-MOTL, end-Poland and end-Israel. Results suggest that Jewish identity did not substantially increase overall or from one time period to the next.

The emigration of Germany's Jewish dermatologists in the period of National Socialism.

PubMed

Eppinger, S; Meurer, M; Scholz, A

2003-09-01

In the context of our investigation, we found information on 432 (76%) of the 569 Jewish dermatologists in Germany. There is evidence that 57 (10%) of the Jewish dermatologists were murdered in concentration camps, 61 (10.7%) died a natural death, 13 (2%) committed suicide, and 25 (4%) survived the Third Reich in Germany. After 1933, 276 (49%) Jewish dermatologists were able to leave Germany; the United States of America was the main destination and 107 (or 41%) emigrated there. A total of 34 (13%) Jewish dermatologists emigrated from Germany to Palestine and 16 to Latin America. Regarding emigration to other European countries, 20 of the Jewish dermatologists from Germany went to Great Britain (including Walter Freudenthal, 1893-1952, and Ernst Sklarz, 1894-1975), and 24 emigrated to other European countries, such as France (Rudolf Mayer, 1895-1962), Sweden (Carl Lennhoff, 1883-1963), and the Netherlands (Otto Schlein, 1895-1944).

A Mayan founder mutation is a common cause of deafness in Guatemala.

PubMed

Carranza, C; Menendez, I; Herrera, M; Castellanos, P; Amado, C; Maldonado, F; Rosales, L; Escobar, N; Guerra, M; Alvarez, D; Foster, J; Guo, S; Blanton, S H; Bademci, G; Tekin, M

2015-09-08

Over 5% of the world's population has varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (ARNHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a ARNHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared with those of Native American, European, and African populations shows a close match with the Mayan population. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A MAYAN FOUNDER MUTATION IS A COMMON CAUSE OF DEAFNESS IN GUATEMALA

PubMed Central

Carranza, Claudia; Menendez, Ibis; Herrera, Mariana; Castellanos, Patricia; Amado, Carlos; Maldonado, Fabiola; Rosales, Luisa; Escobar, Nancy; Guerra, Mariela; Alvarez, Darwin; Foster, Joseph; Guo, Shengru; Blanton, Susan H.; Bademci, Guney; Tekin, Mustafa

2017-01-01

SUMMARY Over 5% of the world population have varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (NSHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a NSHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared to those of Native American, European, and African populations shows a close match with the Mayan population. PMID:26346709

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History

PubMed Central

Palamara, Pier Francesco; Lencz, Todd; Darvasi, Ariel; Pe’er, Itsik

2012-01-01

Data-driven studies of identity by descent (IBD) were recently enabled by high-resolution genomic data from large cohorts and scalable algorithms for IBD detection. Yet, haplotype sharing currently represents an underutilized source of information for population-genetics research. We present analytical results on the relationship between haplotype sharing across purportedly unrelated individuals and a population’s demographic history. We express the distribution of IBD sharing across pairs of individuals for segments of arbitrary length as a function of the population’s demography, and we derive an inference procedure to reconstruct such demographic history. The accuracy of the proposed reconstruction methodology was extensively tested on simulated data. We applied this methodology to two densely typed data sets: 500 Ashkenazi Jewish (AJ) individuals and 56 Kenyan Maasai (MKK) individuals (HapMap 3 data set). Reconstructing the demographic history of the AJ cohort, we recovered two subsequent population expansions, separated by a severe founder event, consistent with previous analysis of lower-throughput genetic data and historical accounts of AJ history. In the MKK cohort, high levels of cryptic relatedness were detected. The spectrum of IBD sharing is consistent with a demographic model in which several small-sized demes intermix through high migration rates and result in enrichment of shared long-range haplotypes. This scenario of historically structured demographies might explain the unexpected abundance of runs of homozygosity within several populations. PMID:23103233

Drosophila Heartless Acts with Heartbroken/Dof in Muscle Founder Differentiation

PubMed Central

Dutta, Devkanya; Shaw, Sanjeev; Maqbool, Tariq; Pandya, Hetal

2005-01-01

The formation of a multi-nucleate myofibre is directed, in Drosophila, by a founder cell. In the embryo, founders are selected by Notch-mediated lateral inhibition, while during adult myogenesis this mechanism of selection does not appear to operate. We show, in the muscles of the adult abdomen, that the Fibroblast growth factor pathway mediates founder cell choice in a novel manner. We suggest that the developmental patterns of Heartbroken/Dof and Sprouty result in defining the domain and timing of activation of the Fibroblast growth factor receptor Heartless in specific myoblasts, thereby converting them into founder cells. Our results point to a way in which muscle differentiation could be initiated and define a critical developmental function for Heartbroken/Dof in myogenesis. PMID:16207075

Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations.

PubMed

Hanchard, Neil; Elzein, Abier; Trafford, Clare; Rockett, Kirk; Pinder, Margaret; Jallow, Muminatou; Harding, Rosalind; Kwiatkowski, Dominic; McKenzie, Colin

2007-08-10

The sickle (betas) mutation in the beta-globin gene (HBB) occurs on five "classical" betas haplotype backgrounds in ethnic groups of African ancestry. Strong selection in favour of the betas allele - a consequence of protection from severe malarial infection afforded by heterozygotes - has been associated with a high degree of extended haplotype similarity. The relationship between classical betas haplotypes and long-range haplotype similarity may have both anthropological and clinical implications, but to date has not been explored. Here we evaluate the haplotype similarity of classical betas haplotypes over 400 kb in population samples from Jamaica, The Gambia, and among the Yoruba of Nigeria (Hapmap YRI). The most common betas sub-haplotype among Jamaicans and the Yoruba was the Benin haplotype, while in The Gambia the Senegal haplotype was observed most commonly. Both subtypes exhibited a high degree of long-range haplotype similarity extending across approximately 400 kb in all three populations. This long-range similarity was significantly greater than that seen for other haplotypes sampled in these populations (P < 0.001), and was independent of marker choice and marker density. Among the Yoruba, Benin haplotypes were highly conserved, with very strong linkage disequilibrium (LD) extending a megabase across the betas mutation. Two different classical betas haplotypes, sampled from different populations, exhibit comparable and extensive long-range haplotype similarity and strong LD. This LD extends across the adjacent recombination hotspot, and is discernable at distances in excess of 400 kb. Although the multi-centric geographic distribution of betas haplotypes indicates strong subdivision among early Holocene sub-Saharan populations, we find no evidence that selective pressures imposed by falciparum malaria varied in intensity or timing between these subpopulations. Our observations also suggest that cis-acting loci, which may influence outcomes in sickle

The German-Jewish soldier: from participant to victim.

PubMed

Penslar, Derek

2011-01-01

The story of German-Jewish soldiers and veterans of World War I illustrates how, under circumstances of inclusion (even if incomplete) rather than vicious persecution, Jewish suffering in wartime, and with it the forms of collective memory and strategies for commemoration of the dead, could closely parallel, even intersect with, the suffering of Germans as a whole. To be sure, the points of intersection were accompanied by points of deflection. Even when Jews served, fought, suffered and died as German soldiers, their interpretations of the war experience, and their communities’ postwar memory and commemorative practices, differed from those of other Germans. In many ways, however, German-Jewish veterans suffered the aftermath of the war as did other Germans; they shared the prevailing fury over war guilt and reparations, and they retained a strong pride in their military service, a pride through which they interpreted the events of 1933–1945.

Freud's Jewish identity and psychoanalysis as a science.

PubMed

Richards, Arnold D

2014-12-01

Ludwik Fleck, the Polish philosopher of science, maintained that scientific discovery is influenced by social, political, historical, psychological, and personal factors. The determinants of Freud's Jewish identity are examined from this Fleckian perspective, as is the impact of that complex identity on his creation of psychoanalysis as a science. Three strands contributing to his Jewish identity are identified and explored: his commitment to the ideal of Bildung, the anti-Semitism of the times, and his "godlessness." Finally, the question is addressed of what it means that psychoanalysis was founded by a Jew. For Freud, psychoanalysis was a kind of liberation philosophy, an attempt to break free of his ethnic and religious inheritance. Yet it represented at the same time his ineradicable relationship with that inheritance. It encapsulated both the ambivalence of his Jewish identity and the creativity of his efforts to resolve it. © 2014 by the American Psychoanalytic Association.

New Frontiers: "Milieu" and the Sociology of American Jewish Education

ERIC Educational Resources Information Center

Horowitz, Bethamie

2008-01-01

Over the course of the twentieth century changing circumstances have prompted American Jewish educators to develop new educational strategies to address these needs, and these developments are an important aspect of the sociology of American Jewish education. Using the method of historical sociology, I examine the educational configuration at…

[Differences in clinical characteristics and outcomes of diabetic ketoacidosis (DKA) in Jewish and Bedouin patients].

PubMed

Rabaev, Elena; Sagy, Iftach; Zaid, Eed Abu; Nevzorov, Roman; Harman-Boehm, Ilana; Zeller, Lior; Barski, Leonid

2014-01-01

The aim of this study was to compare clinical characteristics and outcomes of diabetic ketoacidosis (DKA) in the Jewish and Bedouin populations. A retrospective analysis was conducted of hospital admissions for diabetic ketoacidosis in adult patients between 2003 and 2010. The clinical and biochemical characteristics and outcomes of diabetic ketoacidosis patients of Jewish origin were compared with those of Bedouin origin. The primary outcome was in-hospital all-cause mortality. The study cohort included 220 consecutive patients for whom the admission diagnosis was diabetic ketoacidosis. The cohort was categorized according to Jewish and Bedouin origin as follows: 177 (80.5%) Jewish and 43 (19.5%) Bedouin patients. The Jewish patients were significantly older than the Bedouin patients (45.8 +/- 18.9 vs. 32.9 +/- 15.3, p < 0.001). The majority of the patients with diabetic ketoacidosis in both the Jewish and Bedouin groups had type 1 diabetes mellitus. No differences were found for in-hospital mortality, 30 days mortality or complication rates in groups of Jewish and Bedouin patients. The Length of hospital stay was significantly Longer in the Jewish compared to the Bedouin groups of patients (median 4 days (IQR 2; 6 days) vs. median 3 days (IQR 2; 4 days) respectively, p = 0.05). We did not find significant differences in the outcomes between Bedouin and Jewish patients with diabetic ketoacidosis. The Bedouin patients in the present study were younger compared to Jewish patients and the Length of the hospital stay was shorter in the Bedouin compared to the Jewish group. Advanced age, mechanical ventilation and bed-ridden state were independent predictors of 30-day mortality in both ethnic groups.

A comparison of Israeli Jewish and Arab women's birth perceptions.

PubMed

Halperin, Ofra; Sarid, O; Cwikel, J

2014-07-01

birth is a normal physiological process, but can also be experienced as a traumatic event. Israeli Jewish and Arab women share Israeli residency, citizenship, and universal access to the Israeli medical system. However, language, religion, values, customs, symbols, and lifestyle differ between the groups. to examine Israeli Arab and Jewish women's perceptions of their birth experience, and to assess the extent to which childbirth details and perceptions predict satisfaction with the birth experience and the extent of assessing the childbirth as traumatic. this study was conducted in two post partum units of two major public hospitals in the northern part of Israel. The sample included 171 respondents, including 115 Jewish Israeli and 56 Arab Israeli women who gave birth to their first (33%) or second (67%) child. Respondents described their childbirth experiences using a self-report questionnaire 24-48 hours after childbirth. the Arab women were much less likely to attend childbirth preparation classes than the Jewish women (5% versus 24%). Forty-three per cent of the respondents reported feeling helpless, and 68% reported feeling lack of control during childbirth. Twenty per cent of the women rated their childbirth experience as traumatic, a rate much lower than the rate of medical indicators of traumatic birth (39%). The rate of self-reported traumatic birth was significantly higher among the Arab women than among the Jewish women (32% versus 14%). A higher percentage of the Arab women reported being afraid during labour (χ(2)=4.97, p<.05), expressed fear for their newborn's safety (χ(2)=12.44, p<.001), and reported that the level of medical intervention was excessive in their opinion, as compared to the Jewish women (χ(2)=5.09, p<.05; χ(2)=7.33, p<.01). However, both the Arab and Jewish women reported similar numbers of medical interventions and levels of satisfaction with their medical treatment. despite universal access to the Israeli health care system

[Identity and psychoanalysis: particularity and universality of the Jewish question according to Freud].

PubMed

Chemouni, J

1998-11-01

Although he was an atheist, Freud always affirmed his Jewish identity - without religious practice, but within a community commitment. He was proud of his Jewish origin and this helped him to face his hostile scientific environment and to develop his ideas despite the majority against him. What exactly is the role of his Jewish identity in his heritage?

Educational Implications of Michael Fishbane's "Sacred Attunement: A Jewish Theology"

ERIC Educational Resources Information Center

Marom, Daniel

2008-01-01

This article posits Michael Fishbane's Judaic scholarship as a prime resource for Jewish education. The link between the two fields can be made through a translation of the theological underpinnings of Fishbane's insights into Judaism to educational purposes and practices. Initial work with Jewish educators on establishing this link encouraged…

How Have Self-Incompatibility Haplotypes Diversified? Generation of New Haplotypes during the Evolution of Self-Incompatibility from Self-Compatibility.

PubMed

Sakai, Satoki

2016-08-01

I developed a gametophytic self-incompatibility (SI) model to study the conditions leading to diversification in SI haplotypes. In the model, the SI system is assumed to be incomplete, and the pollen expressing a given specificity is not fully rejected by the pistils expressing the same specificity. I also assumed that mutations can occur that enhance the rejection of pollen by pistils with the same haplotype variant and reduce rejection by pistils with other variants in the same haplotype. I found that if such mutations occur, the new haplotypes (mutant variants) can stably coexist with the ancestral haplotype in which the mutant arose. This is because pollen bearing the new haplotype is most strongly rejected by pistils bearing the same new haplotype among the pistils in the population; hence, negative frequency-dependent selection prevents their fixation. I also performed simulations and found that the nearly complete SI system evolves from completely self-compatible populations and that SI haplotypes can increase to about 40-50 within a few thousand generations. On the basis of my findings, I propose that diversification of SI haplotypes occurred during the evolution of SI from self-compatibility.

Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

PubMed Central

Scott, Stuart A.; Edelmann, Lisa; Liu, Liu; Luo, Minjie; Desnick, Robert J.; Kornreich, Ruth

2010-01-01

The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ~1 in 3.3 being a carrier for one disease and ~1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ~15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population. PMID:20672374

Teaching Approaches of Beginning Teachers for Jewish Studies in Israeli "Mamlachti" Schools: A Case Study of a Jewish Education Teachers' Training Program for Outstanding Students

ERIC Educational Resources Information Center

Katzin, Ori

2015-01-01

This article presents findings from a longitudinal qualitative study that examined teaching approaches of neophyte teachers in Israel during their 4-year exclusive teachers' training program for teaching Jewish subjects and first two years of teaching. The program wanted to promote change in secular pupils' attitudes toward Jewish subjects. We…

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).

PubMed

Katagiri, Satoshi; Hayashi, Takaaki; Mizobuchi, Kei; Yoshitake, Kazutoshi; Iwata, Takeshi; Nakano, Tadashi

2018-06-01

It is known that PRPH2 variants appear to be rare causes of retinitis pigmentosa (RP) in the Japanese population. The purpose of this study was to describe clinical and genetic features in autosomal dominant RP (adRP) patients with a novel disease-causing variant in the PRHP2 gene. A total of 57 unrelated Japanese probands with adRP were investigated in this study. Comprehensive ophthalmic examinations include fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, and electroretinography. Whole exome sequencing or Sanger sequencing for 25 targeted exons of multiple genes causing adRP was performed to identify disease-causing variants. Co-segregation and haplotype analyses were performed to determine a disease-causing gene variant and its haplotype. Genetic analysis identified a novel heterozygous PRPH2 variant (c.748T>G, p.Cys250Gly) as disease causing in four probands from four families. The variant co-segregated with the RP phenotype in the eight affected patients in all families. At least three of the four families shared the same haplotype for the variant allele. Clinically, seven of the eight affected patients exhibited typical RP presentation, as well as variable macular involvement including cystoid macular change, vitelliform-like appearance, choroidal neovascularization, and macular atrophy. The same disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) was identified in three of the four Japanese families with adRP, suggesting a founder effect. Our clinical findings indicate that adRP caused by the p.Cys250Gly variant may accompany macular involvement with high frequency.

Classical sickle beta-globin haplotypes exhibit a high degree of long-range haplotype similarity in African and Afro-Caribbean populations

PubMed Central

Hanchard, Neil; Elzein, Abier; Trafford, Clare; Rockett, Kirk; Pinder, Margaret; Jallow, Muminatou; Harding, Rosalind; Kwiatkowski, Dominic; McKenzie, Colin

2007-01-01

Background The sickle (βs) mutation in the beta-globin gene (HBB) occurs on five "classical" βs haplotype backgrounds in ethnic groups of African ancestry. Strong selection in favour of the βs allele – a consequence of protection from severe malarial infection afforded by heterozygotes – has been associated with a high degree of extended haplotype similarity. The relationship between classical βs haplotypes and long-range haplotype similarity may have both anthropological and clinical implications, but to date has not been explored. Here we evaluate the haplotype similarity of classical βs haplotypes over 400 kb in population samples from Jamaica, The Gambia, and among the Yoruba of Nigeria (Hapmap YRI). Results The most common βs sub-haplotype among Jamaicans and the Yoruba was the Benin haplotype, while in The Gambia the Senegal haplotype was observed most commonly. Both subtypes exhibited a high degree of long-range haplotype similarity extending across approximately 400 kb in all three populations. This long-range similarity was significantly greater than that seen for other haplotypes sampled in these populations (P < 0.001), and was independent of marker choice and marker density. Among the Yoruba, Benin haplotypes were highly conserved, with very strong linkage disequilibrium (LD) extending a megabase across the βs mutation. Conclusion Two different classical βs haplotypes, sampled from different populations, exhibit comparable and extensive long-range haplotype similarity and strong LD. This LD extends across the adjacent recombination hotspot, and is discernable at distances in excess of 400 kb. Although the multi-centric geographic distribution of βs haplotypes indicates strong subdivision among early Holocene sub-Saharan populations, we find no evidence that selective pressures imposed by falciparum malaria varied in intensity or timing between these subpopulations. Our observations also suggest that cis-acting loci, which may influence

Two haplotype clusters of Echinococcus granulosus sensu stricto in northern Iraq (Kurdistan region) support the hypothesis of a parasite cradle in the Middle East.

PubMed

Hassan, Zuber Ismael; Meerkhan, Azad Abdullah; Boufana, Belgees; Hama, Abdullah A; Ahmed, Bayram Dawod; Mero, Wijdan Mohammed Salih; Orsten, Serra; Interisano, Maria; Pozio, Edoardo; Casulli, Adriano

2017-08-01

Human cystic echinococcosis (CE) caused by Echinococcus granulosus s.s. is a major public health problem in Iraqi Kurdistan with a reported surgical incidence of 6.3 per 100,000 Arbil inhabitants. A total of 125 Echinococcus isolates retrieved from sheep, goats and cattle were used in this study. Our aim was to determine species/genotypes infecting livestock in Iraqi Kurdistan and examine intraspecific variation and population structure of Echinococcus granulosus s.s. in this region and relate it to that of other regions worldwide. Using nucleotide sequences of the mitochondrial cytochrome c oxidase subunit 1 (cox 1) we identified E. granulosus s.s. as the cause of hydatidosis in all examined animals. The haplotype network displayed a double-clustered topology with two main E. granulosus s.s. haplotypes, (KU05) and (KU33). The 'founder' haplotype (KU05) confirmed the presence of a common lineage of non-genetically differentiated populations as inferred by the low non-significant fixation index values. Overall diversity and neutrality indices indicated demographic expansion. We used E. granulosus s.s. nucleotide sequences from GenBank to draw haplotype networks for the Middle East (Iran, Jordan and Turkey), Europe (Albania, Greece, Italy, Romania and Spain), China, Mongolia, Russia, South America (Argentina, Brazil, Chile and Mexico) and Tunisia. Networks with two haplotype clusters like that reported here for Iraqi Kurdistan were seen for the Middle East, Europe, Mongolia, Russia and Tunisia using both 827bp and 1609bp cox1 nucleotide sequences, whereas a star-like network was observed for China and South America. We hypothesize that the double clustering seen at what is generally assumed to be the cradle of domestication may have emerged independently and dispersed from the Middle East to other regions and that haplotype (KU33) may be the main haplotype within a second cluster in the Middle East from where it has spread into Europe, Mongolia, Russia and North

Teaching about Catholic-Jewish Relationships: Interpreting Jewish Hostility to Jesus in the Gospels

ERIC Educational Resources Information Center

Wansbrough, Henry

2016-01-01

A recent article in this journal, "Teaching about Catholic--Jewish relations: some guidelines to assist the work of teachers in Catholic schools," by Clare Jardine (Volume 7, no 1, 46-60), includes a page on "A new approach to New Testament studies." There the author points out that "The situations described in the Gospels…

Some letters on Jewish Medical Ethics.

PubMed

Jakobovits, I

1983-08-01

Specializing in Jewish Medical Ethics--a term, I believe, first used as the title of my doctor's thesis (1955) subsequently condensed and revised in book form (1959)--I frequently receive inquiries from individuals and organizations seeking guidance on the Jewish attitude to moral issues in medicine. After a review of my voluminous correspondence on many phases of this subject, I have made a small selection on a variety of topics. The correspondence on the last of the four topics, 'Medical Experimentation on Animals', is the longest, because it contains an element of polemics. Since this might make it of special interest to the Journal's readers, and since this subject is infrequently discussed in the literature of Medical Ethics, I decided to include it in this brief selection.

Kabbalah, Education, and Prayer: Jewish Learning in the Seventeenth Century

ERIC Educational Resources Information Center

Necker, Gerold

2018-01-01

In the seventeenth century, the Jewish mystical tradition which is known as Kabbalah was integrated into the curriculum of studying the Hebrew Bible and the Talmud. Kabbalah became popular in these times in the wake of the dissemination of Isaac Luria's teachings, in particular within the Jewish communities in Prague and Amsterdam, where members…

Exploring 350 Years of Jewish American History on the Internet

ERIC Educational Resources Information Center

Berson, Michael J.; Cruz, Barbara C.

2005-01-01

The recent Library of Congress exhibition, From Haven to Home: 350 Years of Jewish Life in America, has sparked renewed interest in the history of Jews in the United States. The collection featured more than 200 documents, images, and artifacts that chronicle the Jewish American experience. In exhibit from September through December 2004, From…

[Jewish medical practitioners in 14th and 15th century Munich].

PubMed

Jankrift, Kay Peter

2002-01-01

Contemporary sources reveal little information about the social conditions of Jewish medical practitioners in 14th and 15th century Munich. Due to the concurrence on the local "medical market" none of the five Jewish doctors named in the documents could practice for a longer period in teh late medieval city. Unlike their co-religionists in several cities of Westphalia, where physicians and surgeons were lacking, no Jewish medical practitioner was ever employed by the Magistrate of Munich. Thus, all of them seemed to have hoped for an employment at the court of the Bavarian Dukes. But with the exception of Jacob of Landshut, physician to the Bavarian Dukes Steven III. and Albrecht III. during the second half of the 14th century, whose medical career and social environment can roughly be retraced, no Jewish doctor seems to have been in service of the court for a longer time.

Religion, genetics, and sexual orientation: the Jewish tradition.

PubMed

Davis, Dena S

2008-06-01

This paper probes the implications of a genetic basis for sexual orientation for traditional branches of Judaism, which are struggling with how accepting to be of noncelibate gays and lesbians in their communities. The paper looks at the current attitudes toward homosexuality across the different branches of Judaism; social and cultural factors that work against acceptance; attitudes toward science in Jewish culture; and the likelihood that scientific evidence that sexual orientation is at least partly genetically determined will influence Jewish scholars' and leaders' thinking on this issue.

Problems and Prospects of Jewish Education for Intelligent Citizenship in a Post-Everything World

ERIC Educational Resources Information Center

Jacobs, Benjamin M.

2013-01-01

Judaism, Jewish life, the Jewish people--indeed, almost all facets of the Jewish experience--are in a postmodern, post-denominational, post-ethnic, post-Zionist, post-diaspora, or what may simply be called a "post-everything" age. Studies show that post-everything youth in general are less concerned with national/ethnic/religious identification…

Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives.

PubMed

Pras, E; Kochba, I; Lubetzky, A; Pras, M; Sidi, Y; Kastner, D L

1998-11-02

Cystinuria is a hereditary disorder manifested by the development of kidney stones. Three subtypes of the disease have been described, based on urinary excretion of cystine and the dibasic amino acids in heterozygotes, and oral loading tests in homozygotes. Cystinuria is very common among Libyan Jews living in Israel. Recently, we mapped the disease-causing gene in Libyan Jews to 19q, and have shown a very strong founder effect. In this report we present the results of biochemical and clinical studies performed on Libyan Jewish cystinuria patients and members of their families. High levels of cystine and the dibasic amino acids in heterozygotes support previous data that cystinuria in Libyan Jews is a non-type I disease. Oral loading tests performed with lysine showed some degree of intestinal absorption, but less than in normal controls. Previous criteria for determining the disease type, based solely on urinary amino acid levels, proved useless due to a very wide range of cystine and the dibasic amino acids excreted by the heterozygotes. Urinary cystine levels were useful in distinguishing between unaffected relatives and heterozygotes, but were unhelpful in differentiating between heterozygotes and homozygotes. Urinary levels of ornithine or arginine, and the sum of urinary cystine and the dibasic amino acids, could distinguish between the last two groups. Among stone formers, 90% were homozygotes and 10% were heterozygotes; 15% of the homozygotes were asymptomatic.

Current Jewish perspectives on maternal identity.

PubMed

Wolowelsky, Joel B; Grazi, Richard V

2014-01-01

Infertility counseling is a specialized field that will continue to grow in coming years as the impact of infertility and its treatment is documented more in terms of emotional, physical, social and life consequences. We report here on more recent developments in halakha (Jewish law and ethics) that are of importance to Orthodox Jewish infertile couple considering donor gametes or surrogacy. Counselors should anticipate issues that may arise in the future and assist couples in their efforts to address them. Good medical practice values the importance of understanding the patient's individual concerns and values, including the complex psychological, sociological and cultural context in which they experience their infertility. Good counseling anticipates and addresses future problems about which patients might not currently be aware, and requires up-to-date authoritative information.

Haplotyping for disease association: a combinatorial approach.

PubMed

Lancia, Giuseppe; Ravi, R; Rizzi, Romeo

2008-01-01

We consider a combinatorial problem derived from haplotyping a population with respect to a genetic disease, either recessive or dominant. Given a set of individuals, partitioned into healthy and diseased, and the corresponding sets of genotypes, we want to infer "bad'' and "good'' haplotypes to account for these genotypes and for the disease. Assume e.g. the disease is recessive. Then, the resolving haplotypes must consist of bad and good haplotypes, so that (i) each genotype belonging to a diseased individual is explained by a pair of bad haplotypes and (ii) each genotype belonging to a healthy individual is explained by a pair of haplotypes of which at least one is good. We prove that the associated decision problem is NP-complete. However, we also prove that there is a simple solution, provided the data satisfy a very weak requirement.

Talking ethics with strangers: a view from Jewish tradition.

PubMed

Newman, L E

1993-12-01

The work of H. Tristram Engelhardt provides an important set of reflections for bioethics in a secular context. Taking Engelhardt's work as its point of departure this article explores the challenges that Jewish ethicists face in contributing to bioethics in a secular context. The article explores how the Jewish tradition can address issues in bioethics in ways that are true to its tradition and at the same time accessible and relevant to "moral strangers" in a secular society.

Religiosity and Well-Being among Older Jewish Israelis: Findings from SHARE.

PubMed

Litwin, Howard; Schwartz, Ella; Avital, Dana

2017-01-01

This study examined the correlates of religiosity among Jewish Israelis aged 50 and older. Based on the second wave of Survey of Health, Ageing and Retirement in Europe, the findings show that almost half the Jewish respondents never pray and that, on average, prayer frequency is lower among Jewish Israelis than it is among most of their European counterparts. Multivariate logistic analyses revealed that those who pray more often have more health conditions, are less able to make ends meet financially and have fewer years of education. However, when facing ill health those who pray more often display a relatively lesser decline in their sense of well being.

Euthanasia: an overview and the jewish perspective.

PubMed

Gesundheit, Benjamin; Steinberg, Avraham; Glick, Shimon; Or, Reuven; Jotkovitz, Alan

2006-10-01

End-of-life care poses fundamental ethical problems to clinicians. Defining euthanasia is a difficult and complex task, which causes confusion in its practical clinical application. Over the course of history, abuse of the term has led to medical atrocities. Familiarity with the relevant bioethical issues and the development of practical guidelines might improve clinical performance. To define philosophical concepts, to present historical events, to discuss the relevant attitudes in modern bioethics and law that may be helpful in elaborating practical guidelines for clinicians regarding euthanasia and end-of-life care. Concepts found in the classic sources of Jewish tradition might shed additional light on the issue and help clinicians in their decision-making process. An historical overview defines the concepts of active versus passive euthanasia, physician-assisted suicide and related terms. Positions found in classical Jewish literature are presented and analyzed with their later interpretations. The relevance and application in modern clinical medicine of both the general and Jewish approaches are discussed. The overview of current bioethical concepts demonstrates the variety of approaches in western culture and legal systems. Philosophically and conceptually, there is a crucial distinction between active and passive euthanasia. The legitimacy of active euthanasia has been the subject of major controversy in recent times in various countries and religious traditions. The historical overview and the literature review demonstrate the need to provide clearer definitions of the concepts relating to euthanasia, for in the past the term has led to major confusion and uncontrolled abuse. Bioethical topics should, therefore, be included in medical training and continuing education. There are major debates and controversies regarding the current clinical and legal approaches. We trust that classical Jewish sources might contribute to the establishment of clinical

Ritual encounters of the queer kind: a political analysis of jewish lesbian ritual innovation.

PubMed

Brettschneider, Marla

2003-01-01

SUMMARY Jewish feminist and queer engagement in Jewish life and Judaism are transforming the practices and foundational orientations of traditional modes. Jewish feminist, queer ritual innovation in particular is inspired by an array of secular and radical critical theories as much as it is by the historic concrete experiences of a diversity of Jews in different Jewish communities. It is important to hold all of us who are involved in religious ritual innovation responsible to the knowledges we have developed and learned in critical theory or we risk, even with the best of intentions and creativity, re-inscribing some of the very problems of traditional ontological norms that we might have originally sought to disrupt and subvert. This article looks specifically at examples of new "coming out" rituals for Jewish queers explored over time in the Jewish Queer Think Tank: honoring them as well as offering tools from secular critical theory to assist our work in keeping them accountable to our aspirations to both love and fundamentally transform Jewishness. Here I redefine the function of religious ritual itself in political terms as an identity-producing performance. As such I utilize social constructionist queer theories (i.e., Shane Phelan and Judith Butler), anarchists (i.e., Emma Goldman), and those involved in radical theatre (i.e., Augusto Boal) to articulate the revolutionary potential of ritual innovation.

Teaching "Teacha!" An Exploration of Culturally Responsive Pedagogy in Jewish Education

ERIC Educational Resources Information Center

Hirsch, Miriam

2014-01-01

This case study examines the contours of culturally relevant pedagogy in an undergraduate preservice teacher education program for Jewish women. The case describes how the assigned reading of Albarelli's (2000) narrative of teaching in a Hasidic Jewish school, "Teacha! Stories from a Yeshiva", disrupts the classroom community,…

Seminary Education and Christian-Jewish Relations. A Curriculum and Resource Handbook.

ERIC Educational Resources Information Center

Fisher, Eugene J.

Intended for use in Roman Catholic seminaries to educate in their ecumenical and interfaith responsibilities those in training to become priests, this handbook discusses the manifold implications of Jewish-Christian relations. It is recommended that the topic of Jewish-Christian relations be integrated into the existing areas of seminary study.…

Jewish Day School Wounds and What We Can Do about Them

ERIC Educational Resources Information Center

Hirsch, Miriam

2017-01-01

This article is based upon a qualitative research study that examined 95 school stories written by Jewish female teacher candidates in an undergraduate education course. Many candidates wrote inspirational or humorous stories about growth and development or a special teacher. However, over one third of the narratives described painful Jewish day…

Factor IX gene haplotypes in Amerindians.

PubMed

Franco, R F; Araújo, A G; Zago, M A; Guerreiro, J F; Figueiredo, M S

1997-02-01

We have determined the haplotypes of the factor IX gene for 95 Indians from 5 Brazilian Amazon tribes: Wayampí, Wayana-Apalaí, Kayapó, Arára, and Yanomámi. Eight polymorphisms linked to the factor IX gene were investigated: MseI (at 5', nt -698), BamHI (at 5', nt -561), DdeI (intron 1), BamHI (intron 2), XmnI (intron 3), TaqI (intron 4), MspI (intron 4), and HhaI (at 3', approximately 8 kb). The results of the haplotype distribution and the allele frequencies for each of the factor IX gene polymorphisms in Amerindians were similar to the results reported for Asian populations but differed from results for other ethnic groups. Only five haplotypes were identified within the entire Amerindian study population, and the haplotype distribution was significantly different among the five tribes, with one (Arára) to four (Wayampí) haplotypes being found per tribe. These findings indicate a significant heterogeneity among the Indian tribes and contrast with the homogeneous distribution of the beta-globin gene cluster haplotypes but agree with our recent findings on the distribution of alpha-globin gene cluster haplotypes and the allele frequencies for six VNTRs in the same Amerindian tribes. Our data represent the first study of factor IX-associated polymorphisms in Amerindian populations and emphasizes the applicability of these genetic markers for population and human evolution studies.

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

PubMed Central

Carmi, Shai; Hui, Ken Y.; Kochav, Ethan; Liu, Xinmin; Xue, James; Grady, Fillan; Guha, Saurav; Upadhyay, Kinnari; Ben-Avraham, Dan; Mukherjee, Semanti; Bowen, B. Monica; Thomas, Tinu; Vijai, Joseph; Cruts, Marc; Froyen, Guy; Lambrechts, Diether; Plaisance, Stéphane; Van Broeckhoven, Christine; Van Damme, Philip; Van Marck, Herwig; Barzilai, Nir; Darvasi, Ariel; Offit, Kenneth; Bressman, Susan; Ozelius, Laurie J.; Peter, Inga; Cho, Judy H.; Ostrer, Harry; Atzmon, Gil; Clark, Lorraine N.; Lencz, Todd; Pe’er, Itsik

2014-01-01

The Ashkenazi Jewish (AJ) population is a genetic isolate close to European and Middle Eastern groups, with genetic diversity patterns conducive to disease mapping. Here we report high-depth sequencing of 128 complete genomes of AJ controls. Compared with European samples, our AJ panel has 47% more novel variants per genome and is eightfold more effective at filtering benign variants out of AJ clinical genomes. Our panel improves imputation accuracy for AJ SNP arrays by 28%, and covers at least one haplotype in ≈67% of any AJ genome with long, identical-by-descent segments. Reconstruction of recent AJ history from such segments confirms a recent bottleneck of merely ≈350 individuals. Modelling of ancient histories for AJ and European populations using their joint allele frequency spectrum determines AJ to be an even admixture of European and likely Middle Eastern origins. We date the split between the two ancestral populations to ≈12–25 Kyr, suggesting a predominantly Near Eastern source for the repopulation of Europe after the Last Glacial Maximum. PMID:25203624

Robotics and artificial intelligence: Jewish ethical perspectives.

PubMed

Rappaport, Z H

2006-01-01

In 16th Century Prague, Rabbi Loew created a Golem, a humanoid made of clay, to protect his community. When the Golem became too dangerous to his surroundings, he was dismantled. This Jewish theme illustrates some of the guiding principles in its approach to the moral dilemmas inherent in future technologies, such as artificial intelligence and robotics. Man is viewed as having received the power to improve upon creation and develop technologies to achieve them, with the proviso that appropriate safeguards are taken. Ethically, not-harming is viewed as taking precedence over promoting good. Jewish ethical thinking approaches these novel technological possibilities with a cautious optimism that mankind will derive their benefits without coming to harm.

Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yaouanq, J.; Perichon, M.; Treut, A.L.

1994-02-01

The hemochromatosis gene (HFE) maps to 6p21.3 and is less than 1 cM from the HLA class I gene; however, the precise physical location of the gene has remained elusive and controversial. The unambiguous identification of a crossover event within hemochromatosis families is very difficult; it is particularly hampered by the variability of the phenotypic expression as well as by the sex- and age-related penetrance of the disease. For these considerations, traditional linkage analysis could prove of limited value in further refining the extrapolated physical position of HFE. The authors therefore embarked upon a linkage-disequilibrium analysis of HFE and normalmore » chromosomes for the Brittany population. In this report, 66 hemochromatosis families yielding 151 hemochromatosis chromosomes and 182 normal chromosomes were RFLP-typed with a battery of probes, including two newly derived polymorphic markers from the 6.7 and HLA-F loci located 150 and 250 kb telomeric to HLA-A, respectively. The results suggest a strong peak of existing linkage disequilibrium focused within the i82-to-6.7 interval (approximately 250 kb). The zone of linkage disequilibrium is flanked by the i97 locus, positioned 30 kb proximal to i82, and the HLA-F gene, found 250 kb distal to HLA-A, markers of which display no significant association with HFE. These data support the possibility that HFE resides within the 400-kb expanse of DNA between i97 and HLA-F. Alternatively, the very tight association of HLA-A3 and allele 1 of the 6.7 locus, both of which are comprised by the major ancestral or founder HFE haplotype in Brittany, supports the possibility that the disease gene may reside immediately telomeric to the 6.7 locus within the linkage-disequilibrium zone. Additionally, hemochromatosis haplotypes possessing HLA-A11 and the low-frequency HLA-F polymorphism (allele 2) are supportive of a separate founder chromosome containing a second, independently arising mutant allele. 69 refs., 1 fig., 5

Eight Years Later: Education and Careers of Young Jewish Adults.

ERIC Educational Resources Information Center

Swerdloff, Sol; Rosen, Howard

Based on response to a mailed questionnaire, the 1969 followup study of the college and career plans of Jewish youth surveys a sample of 1,125 young Jewish adults in their mid-20s who took part in a 1961 study of the same nature in which 6,600 participated. The study found that most of the respondents believe that education will enable them to…

The fate of Hungarian Jewish dermatologists during the Holocaust Part 1: Six refugees who fled.

PubMed

Burgdorf, Walter H C; Bock, Julia; Hoenig, Leonard J; Parish, Lawrence Charles

2016-01-01

From the times of Moritz Kaposi, Hungarian Jewish physicians have significantly contributed to the development of dermatology. Part 1 of this special report highlights some of the early Jewish dermatologists in Hungary. It also tells the stories of five Hungarian Jewish dermatologists who fled anti-Semitism in Hungary, or other European countries, between 1920 and 1941: Frederick Reiss, Emery Kocsard, Stephen Rothman, Peter Flesch, and George Csonka. A sixth Hungarian dermatologist, Tibor Benedek, was persecuted by the Nazis, because he had a Jewish wife, forcing the couple to flee Germany. Part 2 will focus on the ordeal faced by Hungarian Jewish dermatologists who did not leave their homeland during World War II. Copyright © 2016 Elsevier Inc. All rights reserved.

Genetic diversity of 38 insertion-deletion polymorphisms in Jewish populations.

PubMed

Ferragut, J F; Pereira, R; Castro, J A; Ramon, C; Nogueiro, I; Amorim, A; Picornell, A

2016-03-01

Population genetic data of 38 non-coding biallelic autosomal indels are reported for 466 individuals, representing six populations with Jewish ancestry (Ashkenazim, Mizrahim, Sephardim, North African, Chuetas and Bragança crypto-Jews). Intra-population diversity and forensic parameters values showed that this set of indels was highly informative for forensic applications in the Jewish populations studied. Genetic distance analysis demonstrated that this set of markers efficiently separates populations from different continents, but does not seem effective for molecular anthropology studies in Mediterranean region. Finally, it is important to highlight that although the genetic distances between Jewish populations were small, significant differences were observed for Chuetas and Bragança Jews, and therefore, specific databases must be used for these populations. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Preparing Jewish Educators: The Research We Have, the Research We Need

ERIC Educational Resources Information Center

Feiman-Nemser, Sharon

2014-01-01

This article discusses the research we have and the research we need in both general and Jewish teacher education. First, I discuss three recent efforts to synthesize and assess existing research in teacher education and to identify needed research. Next I review a handful of recent studies in Jewish teacher education which illustrate various…

Moral Courage from the Perspective of Arab Teachers in Jewish Schools

ERIC Educational Resources Information Center

Baratz, Lea

2016-01-01

The current study aims to call attention to the phenomenon of female Muslim Arab teachers teaching in Israeli Jewish schools. The study examined the manner in which these female Muslim Arab teachers perceived their integration into the milieu of the Jewish schools, based on their descriptions of the various processes they experience when dealing…

Detecting structure of haplotypes and local ancestry

USDA-ARS?s Scientific Manuscript database

We present a two-layer hidden Markov model to detect the structure of haplotypes for unrelated individuals. This allows us to model two scales of linkage disequilibrium (one within a group of haplotypes and one between groups), thereby taking advantage of rich haplotype information to infer local an...

A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy.

PubMed

Mudau, M M; Essop, F; Krause, A

2016-12-21

Fukutin-related protein (FKRP) muscular dystrophy is an autosomal recessive disorder caused by mutations in the FKRP gene. The condition is often misdiagnosed as a dystrophinopathy. A previously unreported mutation, c.1100T>C in exon 4 of FKRP, had been identified in homozygous form in two white South African (SA) Afrikaner patients clinically diagnosed with a dystrophinopathy. To investigate whether the c.1100T>C mutation and the common European FKRP mutation c.826C>A are present in other patients of Afrikaner origin with suspected dystrophinopathy, and whether a founder haplotype exists. The c.1100T>C mutation was initially tested for using an amplification refractory mutation system technique in 45 white SA Afrikaner patients who had tested negative using multiplex ligation probe amplification screening for exonic deletions/duplications in the dystrophin gene. Sequencing analysis was used to confirm the c.1100T>C mutation and screen for the c.826C>A mutation. Two cohorts (each numbering 100) of Afrikaans and other white controls were screened for the c.1100T>C and c.826C>A mutations, respectively. Of the 45 patients, 8 patients (17.8%) were homozygous for c.1100T>C, 2 (4.4%) were compound heterozygotes for c.1100T>C and c.826C>A, and 1 (2.2%) was heterozygous for c.1100T>C with a second unidentified mutation. The c.1100T>C mutation was found in 1/100 controls, but no heterozygotes for the c.826C>A mutation were identified. Linked marker analysis for c.1100T>C showed a common haplotype, suggesting a probable founder mutation in the SA Afrikaner population. FKRP mutations may be relatively common in Afrikaners, and screening should be considered in patients who have a suggestive phenotype and test negative for a dystrophinopathy. This test will be useful for offering diagnostic, carrier and prenatal testing for affected individuals and their families. As FKRP muscular dystrophy is autosomal recessive in inheritance, the

Extended Islands of Tractability for Parsimony Haplotyping

NASA Astrophysics Data System (ADS)

Fleischer, Rudolf; Guo, Jiong; Niedermeier, Rolf; Uhlmann, Johannes; Wang, Yihui; Weller, Mathias; Wu, Xi

Parsimony haplotyping is the problem of finding a smallest size set of haplotypes that can explain a given set of genotypes. The problem is NP-hard, and many heuristic and approximation algorithms as well as polynomial-time solvable special cases have been discovered. We propose improved fixed-parameter tractability results with respect to the parameter "size of the target haplotype set" k by presenting an O *(k 4k )-time algorithm. This also applies to the practically important constrained case, where we can only use haplotypes from a given set. Furthermore, we show that the problem becomes polynomial-time solvable if the given set of genotypes is complete, i.e., contains all possible genotypes that can be explained by the set of haplotypes.

Extremely elevated relative risk of paraffin lamp oil exposures in Orthodox Jewish children.

PubMed

Hoffman, Robert J; Morgenstern, Solomon; Hoffman, Robert S; Nelson, Lewis S

2004-04-01

In observance of the Sabbath and other religious holidays, many Orthodox Jews maintain a burning lamp that uses paraffin lamp oil as fuel. Unintentional pediatric exposure to paraffin lamp oil, a hydrocarbon, is typically by ingestion and carries a risk of aspiration with subsequent pneumonitis. This investigation was prompted by an apparent increase in paraffin lamp oil exposures during the Jewish Sabbath, from sunset Friday until sunset Saturday, noted by the staff of our regional poison control center. In this investigation, we retrospectively reviewed all exposures to paraffin lamp oil occurring in our large city in children <18 years old reported to our regional poison control center between January 1, 2000, and February 1, 2003. Reports were investigated to ascertain the frequency of occurrence of paraffin lamp oil exposures on the Jewish Sabbath and Jewish religious holidays. Caregivers of involved children were surveyed by telephone to determine the exposed child's religion and circumstances of exposure. During these 25 months, 45 cases met inclusion criteria, and all were ingestions. Orthodox Jews accounted for 32 cases (71%), 4 cases (9%) occurred in children who were not Orthodox Jews, and demographic data were unavailable in 9 cases (20%). Twenty-four cases (53%) occurred within 10 hours before or during the Jewish Sabbath or Jewish religious holidays. The relative risk of Orthodox Jewish children to ingest paraffin lamp oil, calculated by using census data, is 374 times that of other children. Public health authorities and caregivers of Orthodox Jewish children should be cognizant of this phenomenon. Educational efforts directed toward both Orthodox Jews and the general public aimed at preventing paraffin lamp oil exposures are warranted.

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PubMed

Ebermann, Inga; Koenekoop, Robert K; Lopez, Irma; Bou-Khzam, Lara; Pigeon, Renée; Bolz, Hanno J

2009-01-01

Congenital hearing loss affects approximately one child in 1000. About 10% of the deaf population have Usher syndrome (USH). In USH, hearing loss is complicated by retinal degeneration with onset in the first (USH1) or second (USH2) decade. In most populations, diagnostic testing is hampered by a multitude of mutations in nine genes. We have recently shown that in French Canadians from Quebec, USH1 largely results from a single USH1C founder mutation, c.216G>A ('Acadian allele'). The genetic basis of USH2 in Canadians of French descent, however, has remained elusive. Here, we have investigated nine USH2 families from Quebec and New Brunswick (the former Acadia) by haplotype analyses of the USH2A locus and sequencing of the three known USH2 genes. Seven USH2A mutations were identified in eight patients. One of them, c.4338_4339delCT, accounts for 10 out of 18 disease alleles (55.6%). This mutation has previously been reported in an Acadian USH2 family, and it was found in homozygous state in the three Acadians of our sample. As in the case of c.216G>A (USH1C), a common haplotype is associated with c.4338_4339delCT. With a limited number of molecular tests, it will now be possible in these populations to estimate whether children with congenital hearing impairment of different degrees will develop retinal disease - with important clinical and therapeutic implications. USH2 is the second example that reveals a significant genetic overlap between Quebecois and Acadians: in contrast to current understanding, other genetic disorders present in both populations are likely based on common founder mutations as well.

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

PubMed Central

Ebermann, Inga; Koenekoop, Robert K; Lopez, Irma; Bou-Khzam, Lara; Pigeon, Renée; Bolz, Hanno J

2009-01-01

Congenital hearing loss affects approximately one child in 1000. About 10% of the deaf population have Usher syndrome (USH). In USH, hearing loss is complicated by retinal degeneration with onset in the first (USH1) or second (USH2) decade. In most populations, diagnostic testing is hampered by a multitude of mutations in nine genes. We have recently shown that in French Canadians from Quebec, USH1 largely results from a single USH1C founder mutation, c.216G>A (‘Acadian allele'). The genetic basis of USH2 in Canadians of French descent, however, has remained elusive. Here, we have investigated nine USH2 families from Quebec and New Brunswick (the former Acadia) by haplotype analyses of the USH2A locus and sequencing of the three known USH2 genes. Seven USH2A mutations were identified in eight patients. One of them, c.4338_4339delCT, accounts for 10 out of 18 disease alleles (55.6%). This mutation has previously been reported in an Acadian USH2 family, and it was found in homozygous state in the three Acadians of our sample. As in the case of c.216G>A (USH1C), a common haplotype is associated with c.4338_4339delCT. With a limited number of molecular tests, it will now be possible in these populations to estimate whether children with congenital hearing impairment of different degrees will develop retinal disease – with important clinical and therapeutic implications. USH2 is the second example that reveals a significant genetic overlap between Quebecois and Acadians: in contrast to current understanding, other genetic disorders present in both populations are likely based on common founder mutations as well. PMID:18665195

Attitudes toward Dating Violence among Jewish and Arab Youth in Israel

ERIC Educational Resources Information Center

Sherer, Moshe

2010-01-01

The objectives of this research were to assess the attitudes toward dating violence among Jewish and Arab male and female adolescents in Israel. The random sample consisted of 1,357 participants from among 9th to 12th grade pupils enrolled in eight Arab and eight Jewish junior and senior high schools. The study assessed attitudes toward…

Train up a Child: On the "Maskilic" Attempt to Change the Habitus of Jewish Children and Young Adults

ERIC Educational Resources Information Center

Shavit, Zohar

2016-01-01

Members of the Jewish Enlightenment movement and Jewish financial entrepreneurs undertook an active, conscious project to effect significant transformations in the Jewish habitus in German-speaking areas during the late 18th and early 19th centuries. A symbiotic relationship allowed these groups to disseminate a new vision of Jewish society…

Auxin acts as a local morphogenetic trigger to specify lateral root founder cells

PubMed Central

Dubrovsky, Joseph G.; Sauer, Michael; Napsucialy-Mendivil, Selene; Ivanchenko, Maria G.; Friml, Jiří; Shishkova, Svetlana; Celenza, John; Benková, Eva

2008-01-01

Plants exhibit an exceptional adaptability to different environmental conditions. To a large extent, this adaptability depends on their ability to initiate and form new organs throughout their entire postembryonic life. Plant shoot and root systems unceasingly branch and form axillary shoots or lateral roots, respectively. The first event in the formation of a new organ is specification of founder cells. Several plant hormones, prominent among them auxin, have been implicated in the acquisition of founder cell identity by differentiated cells, but the mechanisms underlying this process are largely elusive. Here, we show that auxin and its local accumulation in root pericycle cells is a necessary and sufficient signal to respecify these cells into lateral root founder cells. Analysis of the alf4–1 mutant suggests that specification of founder cells and the subsequent activation of cell division leading to primordium formation represent two genetically separable events. Time-lapse experiments show that the activation of an auxin response is the earliest detectable event in founder cell specification. Accordingly, local activation of auxin response correlates absolutely with the acquisition of founder cell identity and precedes the actual formation of a lateral root primordium through patterned cell division. Local production and subsequent accumulation of auxin in single pericycle cells induced by Cre-Lox-based activation of auxin synthesis converts them into founder cells. Thus, auxin is the local instructive signal that is sufficient for acquisition of founder cell identity and can be considered a morphogenetic trigger in postembryonic plant organogenesis. PMID:18559858

Jewish holidays and their associated medical risks.

PubMed

Urkin, Jacob; Naimer, Sody

2015-02-01

Religiosity is inherent in human cultures. Being different in many aspects, all have rules regarding appropriate behavior and rituals. Celebrations of social events and of holidays prevail in all major religions. These include code of dress, prayers, special food and activities which may have negative health implications. The Jewish religion is 'blessed' with an abundance of holidays each with its unique health implications. In this paper we provide an outline of the character of these festivals and possible medical repercussions on those celebrating them. Observant members of the Jewish religion and teams treating this population should be knowledgeable of potentially associated risks. Pre-holiday periods should be specifically targeted for educational and preventive activity in order diminish injury or morbidity.

Practical Parenting: A Jewish Perspective.

ERIC Educational Resources Information Center

Lipsitz, Gail Josephson

Based on the clinical expertise of social workers at Jewish Family Services of Central Maryland, this book presents practical advice for parents of all faiths, with each of 34 chapters exploring a specific parenting issue. The book is divided into five sections: (1) "Many Kinds of Families," dealing with only children, sibling struggles,…

Factors Contributing to the Academic Excellence of American Jewish and Asian Students.

ERIC Educational Resources Information Center

Fejgin, Naomi

1995-01-01

Examines factors that contribute to the academic excellence of Jewish and Asian students. Finds that traditional socioeconomic measures explain some of the advantage of Jewish and Asian students over other ethnic groups but that parent and student attitudes toward education is also an important factor. (ACM)

Genetic markers cannot determine Jewish descent

PubMed Central

Falk, Raphael

2015-01-01

Humans differentiate, classify, and discriminate: social interaction is a basic property of human Darwinian evolution. Presumably inherent differential physical as well as behavioral properties have always been criteria for identifying friend or foe. Yet, biological determinism is a relatively modern term, and scientific racism is, oddly enough, largely a consequence or a product of the Age of Enlightenment and the establishment of the notion of human equality. In recent decades ever-increasing efforts and ingenuity were invested in identifying Biblical Israelite genotypic common denominators by analysing an assortment of phenotypes, like facial patterns, blood types, diseases, DNA-sequences, and more. It becomes overwhelmingly clear that although Jews maintained detectable vertical genetic continuity along generations of socio-religious-cultural relationship, also intensive horizontal genetic relations were maintained both between Jewish communities and with the gentile surrounding. Thus, in spite of considerable consanguinity, there is no Jewish genotype to identify. PMID:25653666

Differentiating founder and chronic HIV envelope sequences

PubMed Central

Maher, Stephen; Mota, Talia; Suzuki, Kazuo; Kelleher, Anthony D.

2017-01-01

Significant progress has been made in characterizing broadly neutralizing antibodies against the HIV envelope glycoprotein Env, but an effective vaccine has proven elusive. Vaccine development would be facilitated if common features of early founder virus required for transmission could be identified. Here we employ a combination of bioinformatic and operations research methods to determine the most prevalent features that distinguish 78 subtype B and 55 subtype C founder Env sequences from an equal number of chronic sequences. There were a number of equivalent optimal networks (based on the fewest covarying amino acid (AA) pairs or a measure of maximal covariance) that separated founders from chronics: 13 pairs for subtype B and 75 for subtype C. Every subtype B optimal solution contained the founder pairs 178–346 Asn-Val, 232–236 Thr-Ser, 240–340 Lys-Lys, 279–315 Asp-Lys, 291–792 Ala-Ile, 322–347 Asp-Thr, 535–620 Leu-Asp, 742–837 Arg-Phe, and 750–836 Asp-Ile; the most common optimal pairs for subtype C were 644–781 Lys-Ala (74 of 75 networks), 133–287 Ala-Gln (73/75) and 307–337 Ile-Gln (73/75). No pair was present in all optimal subtype C solutions highlighting the difficulty in targeting transmission with a single vaccine strain. Relative to the size of its domain (0.35% of Env), the α4β7 binding site occurred most frequently among optimal pairs, especially for subtype C: 4.2% of optimal pairs (1.2% for subtype B). Early sequences from 5 subtype B pre-seroconverters each exhibited at least one clone containing an optimal feature 553–624 (Ser-Asn), 724–747 (Arg-Arg), or 46–293 (Arg-Glu). PMID:28187204

Framing Learner-Centered Jewish Education

ERIC Educational Resources Information Center

Solmsen, Bradley

2012-01-01

Woocher's vision for Reinventing Jewish Education for the 21st Century is clear, compelling, and convincing. The author agrees with Woocher's overarching analysis and deeply believes that profound change is necessary. At the same time, he wants to call for a note of caution related to Woocher's emphasis on the learner at the center. Within the…

Jewish physicians' beliefs and practices regarding religion/spirituality in the clinical encounter.

PubMed

Stern, Robert M; Rasinski, Kenneth A; Curlin, Farr A

2011-12-01

We used data from a 2003 survey of US physicians to examine differences between Jewish and other religiously affiliated physicians on 4-D of physicians' beliefs and practices regarding religion and spirituality (R/S) in the clinical encounter. On each dimension, Jewish physicians ascribed less importance to the effect of R/S on health and a lesser role for physicians in addressing R/S issues. These effects were partially mediated by lower levels of religiosity among Jewish physicians and by differences in demographic and practice-level characteristics. The study provides a salient example of how religious affiliation can be an important independent predictor of physicians' clinically-relevant beliefs and practices.

Values in Tension: Israel Education at a U.S. Jewish Day School

ERIC Educational Resources Information Center

Zakai, Sivan

2011-01-01

The Naphtali Herz Imber Jewish Day School proudly proclaimed its commitment to Israel, yet many of its students experienced profound ambivalence toward the Jewish State. Why? The school was committed to a series of contradictory values which surfaced in its approach to Israel education. This article outlines three distinct yet interrelated…

A Content Analysis of the First National Conference on Adult Jewish Education.

ERIC Educational Resources Information Center

Feinstein, Sara

Based on a set of propositions for maintaining individual group culture, this study examined the outlook of adult Jewish education practitioners. A limited survey of adult Jewish education revealed certain needs and problems, and a national conference was convened to discuss the findings. Tape-recorded statements by speakers and workshop…

Reconstruction of Haplotype-Blocks Selected during Experimental Evolution.

PubMed

Franssen, Susanne U; Barton, Nicholas H; Schlötterer, Christian

2017-01-01

The genetic analysis of experimentally evolving populations typically relies on short reads from pooled individuals (Pool-Seq). While this method provides reliable allele frequency estimates, the underlying haplotype structure remains poorly characterized. With small population sizes and adaptive variants that start from low frequencies, the interpretation of selection signatures in most Evolve and Resequencing studies remains challenging. To facilitate the characterization of selection targets, we propose a new approach that reconstructs selected haplotypes from replicated time series, using Pool-Seq data. We identify selected haplotypes through the correlated frequencies of alleles carried by them. Computer simulations indicate that selected haplotype-blocks of several Mb can be reconstructed with high confidence and low error rates, even when allele frequencies change only by 20% across three replicates. Applying this method to real data from D. melanogaster populations adapting to a hot environment, we identify a selected haplotype-block of 6.93 Mb. We confirm the presence of this haplotype-block in evolved populations by experimental haplotyping, demonstrating the power and accuracy of our haplotype reconstruction from Pool-Seq data. We propose that the combination of allele frequency estimates with haplotype information will provide the key to understanding the dynamics of adaptive alleles. © The Author 2016. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

The mass campaign to eradicate ringworm among the Jewish community in Eastern Europe, 1921-1938.

PubMed

Shvarts, Shifra; Romem, Pnina; Romem, Yitzhak; Shani, Mordechai

2013-04-01

Between the years 1921 and 1938, 27,600 children were irradiated during a mass campaign to eradicate ringworm among the Jewish community in East Europe. The ringworm campaign was the initiative of the American Jewish Joint Distribution Committee together with the Jewish health maintenance organization OZE (The Society for the Protection of Jewish Health). We describe this campaign that used x-rays to eradicate ringworm and its mission to enhance public health among Jewish communities in Eastern Europe during the period between the world wars. We discuss the concepts behind the campaign, the primary health agents that participated in it, and the latent medical ramifications that were found among children treated for ringworm, many years after treatment--pathologies that can be linked to the irradiation they received as children. Our research is based on historical archival materials in the United States, Europe, and Israel.

Examining Social Perceptions between Arab and Jewish Children through Human Figure Drawings

ERIC Educational Resources Information Center

Yedidia, Tova; Lipschitz-Elchawi, Rachel

2012-01-01

This study examined social perceptions among 191 Arab and Jewish children who live in mixed neighborhoods in Israel. Human Figure Drawing assessment was used to examine the children's social perceptions. The drawings that the Jewish Israeli children created portrayed Arabs as the enemy, whereas the Arab Israeli children expressed a more positive…

The image of the insane in ancient Jewish lore.

PubMed

Kottek, S S

1992-01-01

This article considers the attitude towards the insane and insanity in ancient Jewish sources. In the Bible, the most famous case of a psychopathological personality is that of King Saul, who was plagued by 'an evil spirit'. Saul also raises the problematic connections between prophecy and frenzy. Madness and confusion of mind are mentioned among the biblical 'curses for disobedience'. In the Talmud, there is a detailed symptomatic evaluation of insanity, in the context of legal liability. It is well-known that some individuals are at times insane, otherwise sane and responsible, which is legally taken into careful consideration. The Jewish historian Josephus describes in his works several cases of psychiatric patients. The most impressive case is that of Jesus ben Ananias, a delirious maniac who announced the fall of Jerusalem while roaming about the streets of the city. It may be argued that no clear attitude of derision or ostracism towards insane patients can be found in ancient Jewish literature. 'The Lord preserves the fools' (Ps 116: 6).

Social Psychological Origins of Conspiracy Theories: The Case of the Jewish Conspiracy Theory in Malaysia

PubMed Central

Swami, Viren

2012-01-01

Two studies examined correlates of belief in a Jewish conspiracy theory among Malays in Malaysia, a culture in which state-directed conspiracism as a means of dealing with perceived external and internal threats is widespread. In Study 1, 368 participants from Kuala Lumpur, Malaysia, completed a novel measure of belief in a Jewish conspiracy theory, along with measures of general conspiracist ideation, and anomie. Initial analysis showed that the novel scale factorially reduced to a single dimension. Further analysis showed that belief in the Jewish conspiracy theory was only significantly associated with general conspiracist ideation, but the strength of the association was weak. In Study 2, 314 participants completed the measure of belief in the Jewish conspiracy theory, along with measures of general conspiracist ideation, and ideological attitudes. Results showed that belief in the Jewish conspiracy theory was associated with anti-Israeli attitudes, modern racism directed at the Chinese, right-wing authoritarianism, and social dominance orientation. General conspiracist ideation did not emerge as a significant predictor once other variables had been accounted for. These results suggest that there may be specific cultural and social psychological forces that drive belief in the Jewish conspiracy theory within the Malaysian context. Specifically, belief in the Jewish conspiracy theory among Malaysian Malays appears to serve ideological needs and as a mask for anti-Chinese sentiment, which may in turn reaffirm their perceived ability to shape socio-political processes. PMID:22888323

Social psychological origins of conspiracy theories: the case of the jewish conspiracy theory in malaysia.

PubMed

Swami, Viren

2012-01-01

Two studies examined correlates of belief in a Jewish conspiracy theory among Malays in Malaysia, a culture in which state-directed conspiracism as a means of dealing with perceived external and internal threats is widespread. In Study 1, 368 participants from Kuala Lumpur, Malaysia, completed a novel measure of belief in a Jewish conspiracy theory, along with measures of general conspiracist ideation, and anomie. Initial analysis showed that the novel scale factorially reduced to a single dimension. Further analysis showed that belief in the Jewish conspiracy theory was only significantly associated with general conspiracist ideation, but the strength of the association was weak. In Study 2, 314 participants completed the measure of belief in the Jewish conspiracy theory, along with measures of general conspiracist ideation, and ideological attitudes. Results showed that belief in the Jewish conspiracy theory was associated with anti-Israeli attitudes, modern racism directed at the Chinese, right-wing authoritarianism, and social dominance orientation. General conspiracist ideation did not emerge as a significant predictor once other variables had been accounted for. These results suggest that there may be specific cultural and social psychological forces that drive belief in the Jewish conspiracy theory within the Malaysian context. Specifically, belief in the Jewish conspiracy theory among Malaysian Malays appears to serve ideological needs and as a mask for anti-Chinese sentiment, which may in turn reaffirm their perceived ability to shape socio-political processes.

Identification of kin structure among Guam rail founders: a comparison of pedigrees and DNA profiles

USGS Publications Warehouse

Haig, Susan M.; Ballou, J.D.; Casna, N.J.

1994-01-01

Kin structure among founders can have a significant effect on subsequent population structure. Here we use the correlation between DNA profile similarity and relatedness calculated from pedigrees to test hypotheses regarding kin structure among founders to the captive Guam rail (Rallus owstoni) population. Five different pedigrees were generated under the following hypotheses: (i) founders are unrelated; (ii) founders are unrelated except for same-nest chicks; (iii) founders from the same major site are siblings; (iv) founders from the same local site are siblings; and (v) founders are related as defined by a UPGMA cluster analysis of DNA similarity data. Relatedness values from pedigrees 1, 2 and 5 had the highest correlation with DNA similarity but the correlation between relatedness and similarity were not significantly different among pedigrees. Pedigree 5 resulted in the highest correlation overall when using only relatedness values that changed as a result of different founder hypotheses. Thus, founders were assigned relatedness based on pedigree 5 because it had the highest correlations with DNA similarity, was the most conservative approach, and incorporated all field data. The analyses indicated that estimating relatedness using DNA profiles remains problematic, therefore we compared mean kinship, a measure of genetic importance, with mean DNA profile similarity to determine if genetic importance among individuals could be determined via use of DNA profiles alone. The significant correlation suggests this method may provide more information about population structure than was previously thought. Thus, DNA profiles can provide a reasonable explanation for founder relatedness and mean DNA profile similarity may be helpful in determining relative genetic importance of individuals when detailed pedigrees are absent.

Lower lung cancer rates in Jewish smokers in Israel and the USA.

PubMed

Rennert, Gad; Kremer, Ran; Rennert, Hedy S; Wollner, Mira; Agbarya, Abed; Pinchev, Mila; Lejbkowicz, Flavio; Spitz, Margaret R; Muscat, Joshua E

2015-11-01

Lung cancer rates in Israeli Jews have remained stable over the last five decades and are much lower than in most developed countries despite high historical smoking rates. We compared lung cancer risk in Jews and non-Jews in Israel and in the United States. Data were derived from a population-based, case-control study in Israel (638 cases, 496 controls) to estimate lung cancer risk associated with smoking. Data were also acquired from a case-control study in the United States with information on religious affiliation (5,093 cases, 4,735 controls). Smoking was associated with lung cancer risk in all religion/gender groups in both studies. However, major differences in risk magnitude were noted between Jews and non-Jews; ever smoking was associated with a moderately elevated risk of lung cancer in Jewish men and women in Israel (OR = 4.61, 2.90-7.31 and OR = 2.10, 1.36-3.24, respectively), and in Jewish men and women in the United States (OR = 7.63, 5.34-10.90 and OR = 8.50, 5.94-12.17) but were significantly higher in Israeli non-Jewish men (OR = 12.96, 4.83-34.76) and US non-Jewish men and women (OR = 11.33, 9.09-14.12 and OR = 12.78, 10.45-15.63). A significant interaction between smoking and religion was evident in light, moderate and heavy male and female smokers. The differences in risk level between Israeli Jews and non-Jews could not be explained by lung cancer genetic risk variants which were identified in GWAS (genes in the CHRNA5, TERT and CLPTM1L regions). Data from the two studies support the notion of a reduced risk of lung cancer in Jewish compared to non-Jewish smokers in different areas of the world. © 2015 UICC.

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.

PubMed

Goldstein, Orly; Gana-Weisz, Mali; Nefussy, Beatrice; Vainer, Batel; Nayshool, Omri; Bar-Shira, Anat; Traynor, Bryan J; Drory, Vivian E; Orr-Urtreger, Avi

2018-04-01

We characterized the C9orf72 hexanucleotide repeat expansion (RE) mutation in amyotrophic lateral sclerosis (ALS) patients of 2 distinct origins, Ashkenazi and North Africa Jews (AJ, NAJ), its frequency, and genotype-phenotype correlations. In AJ, 80% of familial ALS (fALS) and 11% of sporadic ALS carried the RE, a total of 12.9% of all AJ-ALS compared to 0.3% in AJ controls (odds ratio [OR] = 44.3, p < 0.0001). In NAJ, 10% of fALS and 9% of sporadic ALS carried the RE, a total of 9.1% of all NAJ-ALS compared to 1% in controls (OR = 9.9, p = 0.0006). We identified a risk haplotype shared among all ALS patients, although an association with age at disease onset, fALS, and dementia were observed only in AJ. Variations were identified downstream the repeats. The risk haplotype and these polymorphisms were at high frequencies in alleles with 8 repeats or more, suggesting sequence instability. The different genotype-phenotype correlations and OR, together with the large range in age at onset, suggest that other modifiers and risk factors may affect penetrance and phenotype in ALS. Copyright © 2017 Elsevier Inc. All rights reserved.

Genetic variation of 'Candidatus Liberibacter solanacearum' haplotype C and identification of a novel haplotype from Trioza urticae and stinging nettle.

PubMed

Haapalainen, Minna L; Wang, Jinhui; Latvala, Satu; Lehtonen, Mikko T; Pirhonen, Minna; Nissinen, Anne I

2018-03-30

'Candidatus Liberibacter solanacearum' (CLso) haplotype C is associated with disease in carrots and transmitted by the carrot psyllid Trioza apicalis. To identify possible other sources and vectors of this pathogen in Finland, samples were taken of wild plants within and near the carrot fields, the psyllids feeding on these plants, parsnips growing next to carrots, and carrot seeds. For analyzing the genotype of the CLso positive samples, a multi-locus sequence typing (MLST) scheme was developed. CLso haplotype C was detected in 11% of the Trioza anthrisci samples, in 35% of the Anthriscus sylvestris plants with discoloration, and in parsnips showing leaf discoloration. MLST revealed that the CLso in T. anthrisci and most A. sylvestris plants represent different strains than the bacteria found in T. apicalis and the cultivated plants. CLso haplotype D was detected in two of the 34 carrot seed lots tested, but was not detected in the plants grown from these seeds. Phylogenetic analysis by UPGMA clustering suggested that the haplotype D is more closely related to the haplotype A than to C. A novel, sixth haplotype of CLso, most closely related to A and D, was found in the psyllid Trioza urticae and stinging nettle (Urtica dioica, Urticaceae), and named as haplotype U.

Satisfaction of Jewish and Arab teachers in Israel.

PubMed

Bogler, Ronit

2005-02-01

The author investigated the differences between Jewish Israeli and Arab Israeli teachers in their satisfaction with their work. Initially, the goal of the present study was to investigate whether there were demographic attributes (such as age, gender, and education) that differentiated between the two groups of teachers. Later, the author added two variables, teachers' perceptions of their occupation and teachers' perceptions of their principals' leadership styles, to the analysis to examine their contribution to the level of satisfaction for each group. Regression analyses revealed the significant power of the two added variables in predicting teacher satisfaction among both Jewish and Arab Israeli teachers. The author discussed implications of the findings in relation to principals' roles and teachers' perceptions.

Pedagogies of Interpretation, Argumentation, and Formation: From Understanding to Identity in Jewish Education

ERIC Educational Resources Information Center

Shulman, Lee S.

2008-01-01

The author summarizes current thinking about signature pedagogies in "learning to profess" and explores the extent to which these ideas apply to Jewish education. Three signature pedagogies for Jewish education are proposed: the d'var Torah, "chevruta", and pedagogies of argumentation ("machloket"). (Contains 1 figure.)

Jewish Physicians' Beliefs and Practices Regarding Religion/Spirituality in the Clinical Encounter

PubMed Central

Stern, Robert M.; Rasinski, Kenneth A.; Curlin, Farr A.

2013-01-01

We used data from a 2003 survey of US physicians to examine differences between Jewish and other religiously affiliated physicians on 4-D of physicians' beliefs and practices regarding religion and spirituality (R/S) in the clinical encounter. On each dimension, Jewish physicians ascribed less importance to the effect of R/S on health and a lesser role for physicians in addressing R/S issues. These effects were partially mediated by lower levels of religiosity among Jewish physicians and by differences in demographic and practice-level characteristics. The study provides a salient example of how religious affiliation can be an important independent predictor of physicians' clinically-relevant beliefs and practices. PMID:21706257

The Jewish heritage of Ludwig Wittgenstein: its influence on his life and work.

PubMed

Abramovitch, Henry; Prince, Raymond

2006-12-01

This article discusses two aspects of Wittgenstein's Jewish heritage. First, we try to show that Wittgenstein was acutely aware of his own Jewish heritage and especially concerned about its potential influence on his work. Second, we suggest that the form of his work, specifically, his method of inquiry and the peculiar literary character of his work, bear a striking resemblance to that of Hebrew Talmud. Like other assimilated Jews of Central Europe, Wittgenstein may have been directly or indirectly exposed to Hebraic culture and Talmudic logic. An understanding of Wittgenstein's Jewish heritage provides an important and neglected perspective on his work.

Sex Therapy with Orthodox Jewish Couples.

ERIC Educational Resources Information Center

Ostrov, Stewart

1978-01-01

Conceptualized the interplay of religious, cultural, psychological, and interpersonal dynamics as they are related to the etiology and treatment of sexual dysfunctions within this group. Shows that the Jewish laws and values create an ambience whereby successful treatment of dysfunctions occurs through the resolution of key marital difficulties.…

Unkosher Sex: Vulnerable Narcissism and Ultra-Orthodox Jewish Men.

PubMed

Schapiro-Halberstam, Sara; Josephs, Lawrence

2018-05-08

Narcissistic men that engage in out-of-control extra-marital sex can be challenging to treat when their cultural background reinforces their misogyny and sense of entitlement, as it does among ultra-Orthodox Jewish men. A case study illustrates the challenges for a female clinician helping an unfaithful, married, narcissistic ultra-Orthodox Jewish male refrain from seeing prostitutes. He devalued the approach of his female therapist and the client had to learn that he was not entitled to women's love and respect, but that he needed to earn it by transcending his egocentrism and demonstrating empathy rather than contempt for women.

The Study of Poverty in the Jewish Community, City of New York.

ERIC Educational Resources Information Center

Rosenshein, Joel; Ribner, Sol

Poverty in New York City has been studied but never the specific problem of the Jewish minority groupings. The present study was geared towards presenting the incidences of poverty within the Jewish population in New York City and in presenting the beginning sociological picture of poverty among Jews. The study went through three phases. A first…

History of past sexual abuse in married observant Jewish women.

PubMed

Yehuda, Rachel; Friedman, Michelle; Rosenbaum, Talli Y; Labinsky, Ellen; Schmeidler, James

2007-11-01

The authors examined instances of past sexual abuse and related demographic characteristics in the self-reports of a select group of married observant Jewish women. Orthodox Jewish married women (N=380) ages 19 to 58 responded to advertisements asking them to complete an anonymous questionnaire about sexual experiences, including sexual abuse. Sexual abuse was reported by 26% of the respondents surveyed, with 16% reporting abuse occurring by the age of 13. More ultra-Orthodox Jews reported abuse than modern-Orthodox Jews. Women who were raised observant reported significantly less childhood sexual abuse than those who became observant later in life. Sexual abuse was associated with increased treatment-seeking for depression, marital counseling, or other emotional or psychological problems. While observant Jewish women live in a culture defined by a high degree of adherence to specific laws of conduct, including rules designed to regulate sexual contact, sexual abuse of various types still exists among them.

Synthetic biology: a Jewish view.

PubMed

Glick, Shimon

2012-01-01

The discipline of synthetic biology may be one of the most dramatic advances of the past few decades. It represents a radical upgrading of humankind's ability to manipulate the world in which we live. The potential for benefits to society is enormous, but the risks for deliberate abuse or dangerous miscalculations are no less great. There are serious ethical issues, legitimate concerns for biosafety, and fears of bioterrorism. The ethical dilemmas posed are new and challenging and are being addressed by various groups and commissions. The present paper presents a Jewish approach to some of the ethical issues posed by this new technology. Judaism traditionally looks favorably on man as a co-creator with God and encourages research for the benefit of humankind. Thus it would have a positive attitude towards the current goals of synthetic biology. But in the Jewish tradition man is also charged with stewardship over nature and is admonished to preserve and nurture, not just to exploit and destroy. In line with the Presidential Commission on Bioethics, it would support a carefully weighed balance between the precautionary and the "proactionary" approaches.

Six Values Never to Silence: Jewish Perspectives on Nazi Medical Professionalism

PubMed Central

Kolman, Jacob M.; Miller, Susan M.

2018-01-01

An ideological case study based on medical profession norms during the Third Reich will be used to exemplify the importance of diversity in the manifestations of professional ethics. The German professional medical community banned their Jewish colleagues from treating German citizens. This included legally mandated employment discrimination and outright censure which led to a professional ethic devoid of diverse voices. While the escalation to the T-4 program and medicalized genocide was influenced by many causes, the intentional, ethnocentric-based exclusion of voices was an important contributing element to the chronicled degradation of societal mores. For illustration, six core Jewish values—life, peace, justice, mercy, scholarship, and sincerity of intention—will be detailed for their potential to inspire health-care professionals to defend and protect minorities and for readers to think critically about the role of medical professionalism in Third Reich society. The Jewish teachings highlight the inherent professional obligations physicians have toward their patients in contrast to the Third Reich’s corruption of patient-centered professionalism. More fundamentally, juxtaposing Jewish and Nazi teachings exposes the loss of perspective when a profession’s identity spurns diversity. To ensure respect for persons in all vulnerable minorities, the first step is addressing professional inclusion of minority voices. PMID:29406846

New HLA haplotype frequency reference standards: high-resolution and large sample typing of HLA DR-DQ haplotypes in a sample of European Americans.

PubMed

Klitz, W; Maiers, M; Spellman, S; Baxter-Lowe, L A; Schmeckpeper, B; Williams, T M; Fernandez-Viña, M

2003-10-01

A collaborative study involving a large sample of European Americans was typed for the histocompatibility loci of the HLA DR-DQ region and subjected to intensive typing validation measures in order to accurately determine haplotype composition and frequency. The resulting tables have immediate application to HLA typing and allogeneic transplantation. The loci within the DR-DQ region are especially valuable for such an undertaking because of their tight linkage and high linkage disequilibrium. The 3798 haplotypes, derived from 1899 unrelated individuals, had a total of 75 distinct DRB1-DQA1-DQB1 haplotypes. The frequency distribution of the haplotypes was right skewed with haplotypes occurring at a frequency of less than 1% numbering 59 and yet constituting less than 12% of the total sample. Given DRB1 typing, it was possible to infer the exact DQA1 and DQB1 composition of a haplotype with high confidence (>90% likelihood) in 21 of the 35 high-resolution DRB1 alleles present in the sample. Of the DRB1 alleles without high reliability for DQ haplotype inference, only *0401, *0701 and *1302 were common, the remaining 11 DRB1 alleles constituting less than 5% of the total sample. This approach failed for the 13 serologically equivalent DR alleles in which only 33% of DQ haplotypes could be reliably inferred. The 36 DQA1-DQB1 haplotypes present in the total sample conformed to the known pattern of permissible heterodimers. Four DQA1-DQB1 haplotypes, all rare, are reported here for the first time. The haplotype frequency tables are suitable as a reference standard for HLA typing of the DR and DQ loci in European Americans.

Haplotype diversity in 11 candidate genes across four populations.

PubMed

Beaty, T H; Fallin, M D; Hetmanski, J B; McIntosh, I; Chong, S S; Ingersoll, R; Sheng, X; Chakraborty, R; Scott, A F

2005-09-01

Analysis of haplotypes based on multiple single-nucleotide polymorphisms (SNP) is becoming common for both candidate gene and fine-mapping studies. Before embarking on studies of haplotypes from genetically distinct populations, however, it is important to consider variation both in linkage disequilibrium (LD) and in haplotype frequencies within and across populations, as both vary. Such diversity will influence the choice of "tagging" SNPs for candidate gene or whole-genome association studies because some markers will not be polymorphic in all samples and some haplotypes will be poorly represented or completely absent. Here we analyze 11 genes, originally chosen as candidate genes for oral clefts, where multiple markers were genotyped on individuals from four populations. Estimated haplotype frequencies, measures of pairwise LD, and genetic diversity were computed for 135 European-Americans, 57 Chinese-Singaporeans, 45 Malay-Singaporeans, and 46 Indian-Singaporeans. Patterns of pairwise LD were compared across these four populations and haplotype frequencies were used to assess genetic variation. Although these populations are fairly similar in allele frequencies and overall patterns of LD, both haplotype frequencies and genetic diversity varied significantly across populations. Such haplotype diversity has implications for designing studies of association involving samples from genetically distinct populations.

The Mass Campaign to Eradicate Ringworm Among the Jewish Community in Eastern Europe, 1921–1938

PubMed Central

Romem, Pnina; Romem, Yitzhak; Shani, Mordechai

2013-01-01

Between the years 1921 and 1938, 27 600 children were irradiated during a mass campaign to eradicate ringworm among the Jewish community in East Europe. The ringworm campaign was the initiative of the American Jewish Joint Distribution Committee together with the Jewish health maintenance organization OZE (The Society for the Protection of Jewish Health). We describe this campaign that used x-rays to eradicate ringworm and its mission to enhance public health among Jewish communities in Eastern Europe during the period between the world wars. We discuss the concepts behind the campaign, the primary health agents that participated in it, and the latent medical ramifications that were found among children treated for ringworm, many years after treatment—pathologies that can be linked to the irradiation they received as children. Our research is based on historical archival materials in the United States, Europe, and Israel. PMID:23409897

The effect of using genealogy-based haplotypes for genomic prediction.

PubMed

Edriss, Vahid; Fernando, Rohan L; Su, Guosheng; Lund, Mogens S; Guldbrandtsen, Bernt

2013-03-06

Genomic prediction uses two sources of information: linkage disequilibrium between markers and quantitative trait loci, and additive genetic relationships between individuals. One way to increase the accuracy of genomic prediction is to capture more linkage disequilibrium by regression on haplotypes instead of regression on individual markers. The aim of this study was to investigate the accuracy of genomic prediction using haplotypes based on local genealogy information. A total of 4429 Danish Holstein bulls were genotyped with the 50K SNP chip. Haplotypes were constructed using local genealogical trees. Effects of haplotype covariates were estimated with two types of prediction models: (1) assuming that effects had the same distribution for all haplotype covariates, i.e. the GBLUP method and (2) assuming that a large proportion (π) of the haplotype covariates had zero effect, i.e. a Bayesian mixture method. About 7.5 times more covariate effects were estimated when fitting haplotypes based on local genealogical trees compared to fitting individuals markers. Genealogy-based haplotype clustering slightly increased the accuracy of genomic prediction and, in some cases, decreased the bias of prediction. With the Bayesian method, accuracy of prediction was less sensitive to parameter π when fitting haplotypes compared to fitting markers. Use of haplotypes based on genealogy can slightly increase the accuracy of genomic prediction. Improved methods to cluster the haplotypes constructed from local genealogy could lead to additional gains in accuracy.

London's Jewish Communities and State Education

ERIC Educational Resources Information Center

Martin, Jane

2012-01-01

The Inner London education authority was a notable example of a radical and powerful local government body from which the fight for the comprehensive principle in English secondary education emerged. Building on previous work of women's contribution to state education in London, this articles focuses on Anglo-Jewish educator activists who helped…

Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island

PubMed Central

Macgregor, Stuart; Bellis, Claire; Lea, Rod A; Cox, Hannah; Dyer, Tom; Blangero, John; Visscher, Peter M; Griffiths, Lyn R

2010-01-01

The population of Norfolk Island, located off the eastern coast of Australia, possesses an unusual and fascinating history. Most present-day islanders are related to a small number of the ‘Bounty' mutineer founders. These founders consisted of Caucasian males and Polynesian females and led to an admixed present-day population. By examining a single large pedigree of 5742 individuals, spanning >200 years, we analyzed the influence of admixture and founder effect on various cardiovascular disease (CVD)-related traits. On account of the relative isolation of the population, on average one-third of the genomes of present-day islanders (single large pedigree individuals) is derived from 17 initial founders. The proportion of Polynesian ancestry in the present-day individuals was found to significantly influence total triglycerides, body mass index, systolic blood pressure and diastolic blood pressure. For various cholesterol traits, the influence of ancestry was less marked but overall the direction of effect for all CVD-related traits was consistent with Polynesian ancestry conferring greater CVD risk. Marker-derived homozygosity was computed and agreed with measures of inbreeding derived from pedigree information. Founder effect (inbreeding and marker-derived homozygosity) significantly influenced height. In conclusion, both founder effect and extreme admixture have substantially influenced the genetic architecture of a variety of CVD-related traits in this population. PMID:19584896

iXora: exact haplotype inferencing and trait association.

PubMed

Utro, Filippo; Haiminen, Niina; Livingstone, Donald; Cornejo, Omar E; Royaert, Stefan; Schnell, Raymond J; Motamayor, Juan Carlos; Kuhn, David N; Parida, Laxmi

2013-06-06

We address the task of extracting accurate haplotypes from genotype data of individuals of large F1 populations for mapping studies. While methods for inferring parental haplotype assignments on large F1 populations exist in theory, these approaches do not work in practice at high levels of accuracy. We have designed iXora (Identifying crossovers and recombining alleles), a robust method for extracting reliable haplotypes of a mapping population, as well as parental haplotypes, that runs in linear time. Each allele in the progeny is assigned not just to a parent, but more precisely to a haplotype inherited from the parent. iXora shows an improvement of at least 15% in accuracy over similar systems in literature. Furthermore, iXora provides an easy-to-use, comprehensive environment for association studies and hypothesis checking in populations of related individuals. iXora provides detailed resolution in parental inheritance, along with the capability of handling very large populations, which allows for accurate haplotype extraction and trait association. iXora is available for non-commercial use from http://researcher.ibm.com/project/3430.

Nurturing a Society of Learners: Suggestions from Traditional Jewish Pedagogy for Medical Education.

PubMed

Urkin, Jacob; Fram, Edward; Jotkowitz, Allen; Naimer, Sody

2017-07-01

Historically speaking, in many societies a select few carried the burden of preserving and transferring knowledge. While modern society has broadened the scope of education, this is not enough in the medical sciences. We must ensure that all those who pursue a career in medicine become life-long learners who will grow and contribute well beyond their years in medical school. In considering how to attain this goal, we were intrigued by the similarities between generations-old wisdom of teaching and learning methods in Jewish culture and modern educational principles. Both aim to nurture a culture of learners. Our objective was to parallel the methodologies, pedagogic directives, and demands made of students in the Jewish tradition, to the principles used in medical education today. We surveyed the traditional Jewish culture of teaching and learning. We compared it to modern medical teaching methods and looked to see what lessons might be gleaned. In the traditional Jewish community, life is focused on education, and producing "learners" is the ideal. This culture of learning was developed over the generations and many educational methods are similar to modern ones. Some of the pedagogic principles developed successfully in Jewish society should be considered for adaptation in medical education. Further comparative research could help to expand the ways in which we teach medicine.

Introducing a Brief Measure of Cultural and Religious Identification in American Jewish Identity

ERIC Educational Resources Information Center

Friedlander, Myrna L.; Friedman, Michelle L.; Miller, Matthew J.; Ellis, Michael V.; Friedlander, Lee K.; Mikhaylov, Vadim G.

2010-01-01

The authors conducted 3 studies to develop and investigate the psychometric properties of the American Jewish Identity Scales (AJIS), a brief self-report measure that assesses cultural identification and religious identification. Study 1 assessed the content validity of the item pool using an expert panel. In Study 2, 1,884 Jewish adults completed…

Case Studies of North American Jewish Educators: Attitudes Regarding Israel and Israel Engagement

ERIC Educational Resources Information Center

Bell-Kligler, Roberta

2013-01-01

The role of Israel in the identity of North American Jews is of concern and interest to community leaders, philosophers of Jewish education, and most important, practitioners in the field. Although there is an awareness of the need to help emerging Jewish educators grapple with the complex questions surrounding Israel engagement, little research…

Mitochondrial haplotype variation and phylogeography of Iberian brown trout populations.

PubMed

MacHordom, A; Suárez, J; Almodóvar, A; Bautista, J M

2000-09-01

The biogeographical distribution of brown trout mitochondrial DNA haplotypes throughout the Iberian Peninsula was established by polymerase chain reaction-restriction fragment polymorphism analysis. The study of 507 specimens from 58 localities representing eight widely separated Atlantic-slope (north and west Iberian coasts) and six Mediterranean drainage systems served to identify five main groups of mitochondrial haplotypes: (i) haplotypes corresponding to non-native, hatchery-reared brown trout that were widely distributed but also found in wild populations of northern Spain (Cantabrian slope); (ii) a widespread Atlantic haplotype group; (iii) a haplotype restricted to the Duero Basin; (iv) a haplotype shown by southern Iberian populations; and (v) a Mediterranean haplotype. The Iberian distribution of these haplotypes reflects both the current fishery management policy of introducing non-native brown trout, and Messinian palaeobiogeography. Our findings complement and extend previous allozyme studies on Iberian brown trout and improve present knowledge of glacial refugia and postglacial movement of brown trout lineages.

Haplotype-Based Association Analysis via Variance-Components Score Test

PubMed Central

Tzeng, Jung-Ying ; Zhang, Daowen 

2007-01-01

Haplotypes provide a more informative format of polymorphisms for genetic association analysis than do individual single-nucleotide polymorphisms. However, the practical efficacy of haplotype-based association analysis is challenged by a trade-off between the benefits of modeling abundant variation and the cost of the extra degrees of freedom. To reduce the degrees of freedom, several strategies have been considered in the literature. They include (1) clustering evolutionarily close haplotypes, (2) modeling the level of haplotype sharing, and (3) smoothing haplotype effects by introducing a correlation structure for haplotype effects and studying the variance components (VC) for association. Although the first two strategies enjoy a fair extent of power gain, empirical evidence showed that VC methods may exhibit only similar or less power than the standard haplotype regression method, even in cases of many haplotypes. In this study, we report possible reasons that cause the underpowered phenomenon and show how the power of the VC strategy can be improved. We construct a score test based on the restricted maximum likelihood or the marginal likelihood function of the VC and identify its nontypical limiting distribution. Through simulation, we demonstrate the validity of the test and investigate the power performance of the VC approach and that of the standard haplotype regression approach. With suitable choices for the correlation structure, the proposed method can be directly applied to unphased genotypic data. Our method is applicable to a wide-ranging class of models and is computationally efficient and easy to implement. The broad coverage and the fast and easy implementation of this method make the VC strategy an effective tool for haplotype analysis, even in modern genomewide association studies. PMID:17924336

The effect of using genealogy-based haplotypes for genomic prediction

PubMed Central

2013-01-01

Background Genomic prediction uses two sources of information: linkage disequilibrium between markers and quantitative trait loci, and additive genetic relationships between individuals. One way to increase the accuracy of genomic prediction is to capture more linkage disequilibrium by regression on haplotypes instead of regression on individual markers. The aim of this study was to investigate the accuracy of genomic prediction using haplotypes based on local genealogy information. Methods A total of 4429 Danish Holstein bulls were genotyped with the 50K SNP chip. Haplotypes were constructed using local genealogical trees. Effects of haplotype covariates were estimated with two types of prediction models: (1) assuming that effects had the same distribution for all haplotype covariates, i.e. the GBLUP method and (2) assuming that a large proportion (π) of the haplotype covariates had zero effect, i.e. a Bayesian mixture method. Results About 7.5 times more covariate effects were estimated when fitting haplotypes based on local genealogical trees compared to fitting individuals markers. Genealogy-based haplotype clustering slightly increased the accuracy of genomic prediction and, in some cases, decreased the bias of prediction. With the Bayesian method, accuracy of prediction was less sensitive to parameter π when fitting haplotypes compared to fitting markers. Conclusions Use of haplotypes based on genealogy can slightly increase the accuracy of genomic prediction. Improved methods to cluster the haplotypes constructed from local genealogy could lead to additional gains in accuracy. PMID:23496971

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kramer, P.L.; Heiman, G.A.; Leon, D. de

1994-09-01

Idiopathic torsion dystonia (ITD) is characterized by involuntary twisting movements and postures. A gene for this disorder, DYT1, was mapped to chromosome 9q34 in 12 Ashkenazi Jewish (AJ) families and one large non-Jewish kindred. In the AJ population, strong linkage disequilibrium exists between DYT1 and adjacent markers within a 2-cM region. The associated haplotype occurs in >90% of early limb-onset AJ cases. The authors examined seven non-Jewish ITD families of northern European and French Canadian descent to determine the extent to which early-onset ITD in non-Jews maps to DYT1. Results are consistent with linkage to the DYT1 region. Affected individualsmore » in these families are clinically similar to the AJ cases, i.e., the site of onset is predominantly in the limbs and at least one individual in each pedigree had onset before age 12 years. None carries the AJ haplotype; therefore, they probably represent different mutations in the DYT1 gene. The two French Canadian families, however, display the same haplotype. Estimates of penetrance in non-Jewish families range from .40 to .75. They identified disease gene carriers and, with adjustments for age at onset, obtained a direct estimate of penetrance of .46. This is consistent with estimates of 30%-40% in the AJ population. Two other non-Jewish families with atypical ITD (later onset and/or cranial or cervical involvement) are not linked to DYT1, which indicates involvement of other genes in dystonia. 26 refs., 1 fig., 3 tabs.« less

Interpreting Freud: the Yiddish philosophical journal Davke investigates a Jewish icon.

PubMed

Berger, Shlomo

2007-06-01

The Argentine-based Yiddish philosophical journal Davke functioned as a mediator between general European philosophy and Jewish philosophy. Its editor Shlomo Suskovich wished to introduce readers of Yiddish to the western tradition of philosophy and, at the same time, to show how Jewish thought contributed to abstract thinking. Through topical issues dedicated to central ideas or to giants among Jewish philosophers, particular knowledge could be successfully transmitted to the reading public. Sigmund Freud was honored with such a topical issue. In it the editor wished to show this Jew's contribution to basic philosophical contemplation rather than limit the discussion to his contributions in the field of psychology. In the central article of the issue on Freud, the editor emphasizes that all the articles in the issue, including those which deal with psychoanalysis, focus on Freud's importance to the world of ideas rather than just the world of medicine.

Blood in ancient Jewish culture.

PubMed

Kottek, Samuel S

2005-01-01

The article analyzes the Jewish attitude towards blood, conceived both as the vehicle of life, and as a polluting product of feminine bodies. The author analyzes numerous Biblical sources concerning the 'unapproachable' blood of menstruation, the role of blood in the generation of the fetus, the blood as source of illness, the practice of bloodletting, and finally the idea that male menstruation exists as a peculiarity of the Jews.

[Medicine, physicians and medical ethics in Jewish tradition through the ages].

PubMed

Gesundheit, Benjamin; Zlotnick, Eitan; Steinberg, Avraham

2014-08-01

Medicine has always had a place of honor in the Jewish heritage. Since Biblical times, the sources of Judaism have valued the physician's activities and seen them as a partnership with God's deeds. Later, in the times of the Mishna and the Talmud, a model of scholars evolved who were not only learned sages but also had extensive medical and scientific knowledge. Their dealings with various issues in medical ethics were the basis for deliberation on questions that appeared throughout history on the advancement of medical science. The various sources from this period show the sages' sensitivity regarding the subject of human life, saving lives and the importance of the availability of medicine for all segments of the population. During the years following the completion of the Talmud, the medical profession was common among the Jews and they excelled in this field. Jewish doctors left behind a Legacy of values in medicine. Hebrew was considered a significant Language in the medical field and was cited in various medical texts such as in the book written by Vesalius, the "father" of modern anatomy. The rapid progress of medicine poses new challenges in bioethics. There is a need for physicians with extensive medical knowledge along with an understanding of ethical issues in order to offer solutions to new situations. Knowledge of the Jewish literature throughout the ages on a variety of subjects and the essential values which are their foundation can contribute to the modern discussion on biomedical questions. This is even more important in Israeli society where many of the laws are formed based on Jewish values. Engagement with Jewish medical ethics can help in educating physicians to have the ability to contribute to public debate and legislation in a way that would balance between the values and needs which an ethical issue raises.

Return of the Pink Rabbit? A Visit to a Jewish School in Berlin.

ERIC Educational Resources Information Center

Rodden, John

1996-01-01

Describes a day in the life of teachers and students at a Jewish elementary school in Berlin, Germany. On this 1994 mid-October morning, the school is under tight security, since skinheads began defacing Jewish graves, neo-Nazis started chanting in the streets, and Palestinian radicals began attacking German Jews. Education toward faith is the…

Student and Teacher Responses to Prayer at a Modern Orthodox Jewish High School

ERIC Educational Resources Information Center

Lehmann, Devra

2010-01-01

This article presents the attitudes of students and teachers to prayer at an American Modern Orthodox Jewish high school. Relevant data, based on observation and interviews, emerged from a larger study of the school's Jewish and secular worlds. A significant gap in responses became apparent. Students viewed prayer as a challenge to their autonomy,…

Ready to Lead? A Look into Jewish Religious School Principal Leadership and Management Training

ERIC Educational Resources Information Center

Vaisben, Eran

2018-01-01

Although most Jewish supplementary religious school principals have graduated from various academic training programs, there are no data about how these programs sufficiently prepare educational leaders. This study examined the essential leadership and management skills of effective Jewish religious school leaders, and assessed their preparation…

Variation in founder groups promotes establishment success in the wild

PubMed Central

Forsman, Anders; Wennersten, Lena; Karlsson, Magnus; Caesar, Sofia

2012-01-01

Environmental changes currently pose severe threats to biodiversity, and reintroductions and translocations are increasingly used to protect declining populations and species from extinction. Theory predicts that establishment success should be higher for more variable groups of dissimilar individuals. To test this ‘diversity promotes establishment’ hypothesis, we introduced colour polymorphic pygmy grasshoppers (Tetrix subulata) to different sites in the wild. The number of descendants found at the release sites the subsequent year increased with increasing number of colour morphs in the founder group, and variation in founder groups also positively affected colour morph diversity in the established populations. Since colour morphs differ in morphology, physiology, behaviour, reproductive life history and types of niche used, these findings demonstrate that variation among individuals in functionally important traits promotes establishment success under natural conditions, and further indicate that founder diversity may contribute to evolutionary rescue and increased population persistence. PMID:22456885

Belonging and ‘Unbelonging’: Jewish refugee and survivor women in 1950s Britain

PubMed Central

Davis, Angela

2017-01-01

ABSTRACT This article analyses the life stories of female Jewish refugees and survivors in 1950s Britain in order to explore their relationship with the existing Jewish community and wider society. The paper is based on an analysis of twenty-one oral history testimonies from the Jewish survivors of the Holocaust collection held at the British library. Around 50,000 Jewish refugees from Central Europe came to Britain in the 1930s after fleeing from Hitler. In addition, a relatively small number of camp survivors and former hidden children settled in the country after the war; the Board of Deputies of British Jews Demographic Unit estimates the figure at 2000. This article considers how these refugee and survivor women tried to find a place for themselves within 1950s Britain. Looking at their experiences of arrival, work and home, it reflects upon the discrimination and hostility they faced, and they ways they tried to deal with this. Finally it discusses what this meant for their sense of belonging or ‘unbelonging’. PMID:28190937

[The living conditions of Jewish physicians in Frankfort on Main in the late Middle Ages and Early Modern Times].

PubMed

Treue, W

1998-01-01

During almost the entire period covered in this article (ca. 1345-1745), the living conditions of Jewish physicians in the Free Imperial City of Frankfort on Main depended to a large extent on the attitudes of the Town Council. The Council, with its increasingly absolutist conception of government, supervised Jewish doctors very closely; on the other hand, it also protected them against the recurrent attacks of Christian physicians, pharmacists and clergymen. The Council understood the importance of the Jewish community to the city's economy, and the contribution of Jewish physicians to the welfare of the city and the neighboring principalities. Until the late 15th century, Jewish medical students were not admitted to European universities; the unique exception was Padua. Hence, arguments against Jewish physicians revolved around their lack of academic qualifications. Such claims were weakened at the end of the 16th century, when the first Jewish graduates from Padua University arrived in Frankfort. The opening of Western European universities in the 17th and 18th centuries enabled increasing numbers of Jews to obtain academic training. The medical profession had become a tradition in many Jewish families, beginning in the Middle Ages; and this tradition was now reinforced and complemented by academic credentials.

[The Jewish Hospital in Budapest under the Nazi occupation (1944-1945)].

PubMed

Weisskopf, Varda

2008-01-01

On March 19, 1944 the German army invaded and occupied Hungary. The Waffen-SS soldiers captured the buildings of the Jewish community in Budapest, including the famous and important Jewish hospital on Szabolcs Street, founded in 1802. The Jewish hospital moved into a school belonging to the Jewish community on 44 Wesselényi Street. The hospital personnel managed to smuggle out medical equipment, and operating rooms were transferred into this central, temporary medical location. Other hospitals were founded, some inside the ghetto, others outside. The Judenrat supplied these hospitals with medical equipment obtained through contributions from Jews. The temporary hospitals admitted sick patients and a great number of those injured as a result of the war in Budapest. These hospitals operated with poor equipment. Surgeries were sometimes performed on kitchen tables, and medical equipment was sterilized by burning the synagogue's benches and library books. As of December 1944, there was no electricity in the hospitals. Thus doctors were forced to operate by the light of candles and flashlights. Nevertheless, they managed to save numerous lives. In spite of the terrible conditions under which the medical staff worked, they were committed to their mission, and their courage deserves appreciation. Ghetto Budapest was liberated by the Red army on 18th January, 1945. Thousands of Jews were released from the temporary hospitals.

Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?

PubMed

Seymour, Heather Jessica; Wainstein, Tasha; Macaulay, Shelley; Haw, Tabitha; Krause, Amanda

2016-02-03

Germline pathogenic mutations in cancer susceptibility genes result in inherited cancer syndromes. In the Afrikaner population of South Africa (SA), three founder mutations in the BRCA genes that lead to hereditary breast and ovarian cancer syndrome (HBOCS) have been identified. To investigate the uptake and type of molecular testing performed on patients for HBOCS, to determine the prevalence of the three Afrikaner founder BRCA mutations as well as non-founder BRCA mutations in the study population, and to analyse the utility of two mutation prediction models (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) and Manchester scoring method) in assisting with the decision for the most cost-effective testing option. A retrospective file review was performed on counsellees of self-reported Afrikaner ancestry from Johannesburg, SA (2001 - 2014), with a personal or family history of breast and/or ovarian cancer. Demographic and family history information was recorded and Manchester and BOADICEA scores were calculated for each patient. Of 86 unrelated counsellees whose files were reviewed, 54 (62.8%) underwent BRCA genetic testing; 18 (33.3%) tested positive for a mutation, and 14 of these (77.8%) for an Afrikaner founder mutation. Twelve counsellees had the BRCA2 c.7934delG mutation. Four non-founder mutations were identified. BOADICEA scores were significantly higher in counsellees who tested positive for a mutation than in those who tested negative. Founder mutation testing should be performed as a first-line option. BOADICEA is very useful in identifying counsellees at high risk for a BRCA mutation and also assists with the decision to pursue further testing following a negative founder mutation result. These findings assist in guiding an informed genetic counselling service for at-risk individuals with an Afrikaner background.

MHC Class II haplotypes of Colombian Amerindian tribes

PubMed Central

Yunis, Juan J.; Yunis, Edmond J.; Yunis, Emilio

2013-01-01

We analyzed 1041 individuals belonging to 17 Amerindian tribes of Colombia, Chimila, Bari and Tunebo (Chibcha linguistic family), Embera, Waunana (Choco linguistic family), Puinave and Nukak (Maku-Puinave linguistic families), Cubeo, Guanano, Tucano, Desano and Piratapuyo (Tukano linguistic family), Guahibo and Guayabero (Guayabero Linguistic Family), Curripaco and Piapoco (Arawak linguistic family) and Yucpa (Karib linguistic family). for MHC class II haplotypes (HLA-DRB1, DQA1, DQB1). Approximately 90% of the MHC class II haplotypes found among these tribes are haplotypes frequently encountered in other Amerindian tribes. Nonetheless, striking differences were observed among Chibcha and non-Chibcha speaking tribes. The DRB1*04:04, DRB1*04:11, DRB1*09:01 carrying haplotypes were frequently found among non-Chibcha speaking tribes, while the DRB1*04:07 haplotype showed significant frequencies among Chibcha speaking tribes, and only marginal frequencies among non-Chibcha speaking tribes. Our results suggest that the differences in MHC class II haplotype frequency found among Chibcha and non-Chibcha speaking tribes could be due to genetic differentiation in Mesoamerica of the ancestral Amerindian population into Chibcha and non-Chibcha speaking populations before they entered into South America. PMID:23885196

Y-SNPs haplotype diversity in four Chinese cattle breeds.

PubMed

Zhang, Runfeng; Cheng, Ming; Li, Xiaofeng; Chen, Fuying; Zheng, Jing; Wang, Xiaofei; Meng, Quanke

2013-01-01

To investigate the genetic diversity of Chinese cattle, 96 male samples of 4 Chinese native cattle breeds were investigated using 5 single nucleotide polymorphisms specific to the bovine Y chromosome. Two previously described haplotypes (taurine Y2 and indicine Y3) were detected in 74 and 22 animals, respectively. The haplotype frequencies varied amongst the four native breeds. The taurine Y2 haplotype dominated in the Qinchuan, Dabieshan, and Yunba breeds. However, the indicine Y3 haplotype occurred in high frequency in the Enshi breed. Among the four native breeds, Yunba had the highest haplotype diversity (0.4330 ± 0.0750), followed by Qinchuan (0.2899 ± 0.1028) and Enshi (0.2222 ± 0.1662), Dabieshan was the least differentiated (0.1079 ± 0.0680). Compared with some foreign cattle breeds, the low level of haplotype diversity was detected in our breeds (0.2633 ± 0.1030).

Self-Concept in Young Adults with a Learning Disability from the Jewish Community

ERIC Educational Resources Information Center

Bunning, Karen; Steel, Gabriela

2007-01-01

A small pilot study was conducted to explore the self-concept of young people with a learning disability from a Jewish community in an inner city area. Four young people participated in the project. All attended a college dedicated to the further education of people with special needs from the Jewish community. Semi-structured interviews were…

Introduction to the Hebrew Edition of "Visions of Jewish Education--Medabrim Chazon" (Talking Vision)

ERIC Educational Resources Information Center

Katzman, Avi; Marom, Daniel

2007-01-01

The following is a translation of the introduction to "Medabrim Chazon" (Jerusalem: Keter, 2006), the Hebrew translation of "Visions of Jewish Education," edited by Seymour Fox, Israel Scheffler, and Daniel Marom (Cambridge, 2003). "Visions of Jewish Education" is an effort by leading scholars to improve the quality…

Gaucher disease: Gene frequencies in the Ashkenazi Jewish population

DOE Office of Scientific and Technical Information (OSTI.GOV)

Beutler, E.; West, C.; Gelbart, T.

1993-01-01

DNA from over 2,000 Ashkenazi Jewish subjects has been examined for the four most common Jewish Gaucher disease mutations, which collectively account for about 96% of the disease-producing alleles in Jewish patients. This population survey has made possible the estimation of gene frequencies for these alleles. Eighty-seven of 1,528 individuals were heterozygous for the 1226G (N370S) mutation, and four presumably well persons were homozygous for this mutation. The gene frequency for the 1226G allele was calculated to be .0311, and when these data were pooled with those obtained previously from another 593 Jewish subjects, a gene frequency of .032 withmore » a standard error of .004 was found. Among 2,305 normal subjects, 10 were found to be heterozygous for the 84GG allele, giving a gene frequency of .00217 with a standard error of .00096. No examples of the IVS2(+1) mutation were found among 1,256 samples screened, and no 1448C (L444P) mutations were found among 1,528 samples examined. Examination of the distribution of Gaucher disease gene frequencies in the general population shows that the ratio of 1226G mutations to 84GG mutations is higher than that in the patient population. This is presumed to be due to the fact that homozygotes for the 1226G mutation often have late-onset disease or no significant clinical manifestations at all. To bring the gene frequency in the patient population into conformity with the gene frequency in the general population, nearly two-thirds of persons with a Gaucher disease genotype would be missing from the patient population, presumably because their clinical manifestations were very mild. 10 refs., 3 tabs.« less

The fate of Hungarian Jewish dermatologists during the Holocaust: Part 2: Under Nazi rule.

PubMed

Bock, Julia; Burgdorf, Walter H C; Hoenig, Leonard J; Parish, Lawrence Charles

At least 564,500 Hungarian Jews perished during the Holocaust, including many physicians. Exactly how many Jewish dermatologists were killed is not known. We have identified 62 Hungarian Jewish dermatologists from this period: 19 of these dermatologists died in concentration camps or were shot in Hungary, 3 committed suicide, and 1 died shortly after the Holocaust, exhausted by the War. Fortunately, many Hungarian Jewish dermatologists survived the Holocaust. Some had fled Europe before the Nazi takeover, as was described in Part 1 of this contribution. Two Holocaust survivors, Ferenc Földvári and Ödön Rajka, became presidents of the Hungarian Dermatologic Society and helped rebuild the profession of dermatology in Hungary after the War. This contribution provides one of the first accounts of the fate of Hungarian Jewish dermatologists during the Holocaust and serves as a remembrance of their suffering and ordeal. Copyright © 2016. Published by Elsevier Inc.

Sparse Tensor Decomposition for Haplotype Assembly of Diploids and Polyploids.

PubMed

Hashemi, Abolfazl; Zhu, Banghua; Vikalo, Haris

2018-03-21

Haplotype assembly is the task of reconstructing haplotypes of an individual from a mixture of sequenced chromosome fragments. Haplotype information enables studies of the effects of genetic variations on an organism's phenotype. Most of the mathematical formulations of haplotype assembly are known to be NP-hard and haplotype assembly becomes even more challenging as the sequencing technology advances and the length of the paired-end reads and inserts increases. Assembly of haplotypes polyploid organisms is considerably more difficult than in the case of diploids. Hence, scalable and accurate schemes with provable performance are desired for haplotype assembly of both diploid and polyploid organisms. We propose a framework that formulates haplotype assembly from sequencing data as a sparse tensor decomposition. We cast the problem as that of decomposing a tensor having special structural constraints and missing a large fraction of its entries into a product of two factors, U and [Formula: see text]; tensor [Formula: see text] reveals haplotype information while U is a sparse matrix encoding the origin of erroneous sequencing reads. An algorithm, AltHap, which reconstructs haplotypes of either diploid or polyploid organisms by iteratively solving this decomposition problem is proposed. The performance and convergence properties of AltHap are theoretically analyzed and, in doing so, guarantees on the achievable minimum error correction scores and correct phasing rate are established. The developed framework is applicable to diploid, biallelic and polyallelic polyploid species. The code for AltHap is freely available from https://github.com/realabolfazl/AltHap . AltHap was tested in a number of different scenarios and was shown to compare favorably to state-of-the-art methods in applications to haplotype assembly of diploids, and significantly outperforms existing techniques when applied to haplotype assembly of polyploids.

Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

PubMed

Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T

2016-02-01

The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH's clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, "marriageability," the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population.

Achievement of Jewish and Arab Students Who Studied Inquiry Oriented Curriculum for Several Years.

ERIC Educational Resources Information Center

Tamir, Pinchas

The study compares the achievement of Jewish and Arab students in the high school biology matriculation examinations in Israel with special reference to differences between boys and girls. While Jewish and Arab students follow the same syllabus and take identical matriculation examinations, significant differences exist in learning and achievement…

Nonaltruistic kidney donations in contemporary Jewish law and ethics.

PubMed

Grazi, Richard V; Wolowelsky, Joel B

2003-01-27

In 2000, the Consensus Statement on the Live Organ Donor reported that "direct financial compensation for an organ from a living donor remains controversial and illegal in the United States" and took note of the position of the Transplantation Society that "Organs and tissue should be given without commercial consideration or commercial profit." Christian authorities insist that organ donors must not accrue economic advantage, and "selling" organs deprives the donation of its ethical quality. The writings of major contemporary authorities of Jewish law and ethics whose halakhic positions on bioethical issues are regularly considered by Orthodox, Conservative, and Reform ethicists were reviewed. Their positions on this issue were contrasted with those of various contemporary secular and religious authorities. These Jewish authorities reject the notion that generosity and charity, rather than monetary gain and greed, must serve as the exclusive basis for donation of functioning organs. Although nonaltruistic sale of kidneys may be theoretically ethical, ultimately its ethical status in Jewish ethics and law is inextricably connected to solving a series of pragmatic programs, such as creating a system that ensures that potential vendors and donors are properly informed and not exploited. Lacking such arrangements, ethical nonaltruistic kidney donations remain but a theoretical possibility.

Designing a Curriculum Model for the Teaching of the Bible in UK Jewish Secondary Schools: A Case Study

ERIC Educational Resources Information Center

Kohn, Eli

2012-01-01

This paper describes the process of designing a curriculum model for Bible teaching in UK Jewish secondary schools. This model was designed over the period 2008-2010 by a team of curriculum specialists from the Jewish Curriculum Partnership UK in collaboration with a group of teachers from Jewish secondary schools. The paper first outlines the…

Prion gene haplotypes of U.S. cattle

PubMed Central

Clawson, Michael L; Heaton, Michael P; Keele, John W; Smith, Timothy PL; Harhay, Gregory P; Laegreid, William W

2006-01-01

Background Bovine spongiform encephalopathy (BSE) is a fatal neurological disorder characterized by abnormal deposits of a protease-resistant isoform of the prion protein. Characterizing linkage disequilibrium (LD) and haplotype networks within the bovine prion gene (PRNP) is important for 1) testing rare or common PRNP variation for an association with BSE and 2) interpreting any association of PRNP alleles with BSE susceptibility. The objective of this study was to identify polymorphisms and haplotypes within PRNP from the promoter region through the 3'UTR in a diverse sample of U.S. cattle genomes. Results A 25.2-kb genomic region containing PRNP was sequenced from 192 diverse U.S. beef and dairy cattle. Sequence analyses identified 388 total polymorphisms, of which 287 have not previously been reported. The polymorphism alleles define PRNP by regions of high and low LD. High LD is present between alleles in the promoter region through exon 2 (6.7 kb). PRNP alleles within the majority of intron 2, the entire coding sequence and the untranslated region of exon 3 are in low LD (18.0 kb). Two haplotype networks, one representing the region of high LD and the other the region of low LD yielded nineteen different combinations that represent haplotypes spanning PRNP. The haplotype combinations are tagged by 19 polymorphisms (htSNPS) which characterize variation within and across PRNP. Conclusion The number of polymorphisms in the prion gene region of U.S. cattle is nearly four times greater than previously described. These polymorphisms define PRNP haplotypes that may influence BSE susceptibility in cattle. PMID:17092337

Education across the Divide: Shared Learning of Separate Jewish and Arab Schools in a Mixed City in Israel

ERIC Educational Resources Information Center

Payes, Shany

2018-01-01

This article examines the impact of contact-based educational encounter strategies of shared learning on Jewish-Arab relations in Israel. It analyses a programme of education for shared life that takes place in a mixed (75% Jewish/25% Arab) city at the centre of Israel since 2012. The programme aims to mitigate Jewish-Arab relations in the city…

Prevalence of ADHD among 7-9-Year-Old Children in Israel. A Comparison between Jewish and Arab Populations.

PubMed

Ornoy, Asher; Ovadia, Moran; Rivkin, Dori; Milshtein, Ellen; Barlev, Lital

2016-01-01

The world prevalence of ADHD ranges between 5-10%. The prevalence in Israel was generally studied from prescriptions of methylphenidate and not from cohorts of children. We assessed the prevalence of ADHD among a cohort of early school age children in the Jewish and Arab populations using DSM-IV criteria and evaluated the difference between teachers' and parental assessment. We also studied in the Jewish population the differences in several social-behavioral parameters between children with and without ADHD. The rate of ADHD among the Jewish children was 9.5% and among the Arab children it was significantly lower - 7.35%. Teachers' evaluation in the Jewish population was 2.3 times higher than parental evaluation but in the Arab population it was closer to that of the parents, being only 12% higher. In addition, there were more regulatory, behavioral and learning problems among the Jewish children with ADHD compared to children without ADHD. The rates of ADHD in school age children among both Jews and Arabs fall within the average rate in other countries. The high difference between teachers' and parental assessment of ADHD in the Jewish population emphasizes that ADHD diagnosis should rely on the joint behavioral assessment of both. The prevalence of ADHD in Jewish early school age children is slightly higher than in Arab children and the inattentive type is the most common. There is a discrepancy between teachers' and parents' evaluation of children's behavior in the Jewish population, but this discrepancy is less in the Arab population.

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.

PubMed

Kramer, P L; de Leon, D; Ozelius, L; Risch, N; Bressman, S B; Brin, M F; Schuback, D E; Burke, R E; Kwiatkowski, D J; Shale, H

1990-02-01

Idiopathic torsion dystonia (ITD) is a neurological disorder characterized by sustained muscle contractions that appear as twisting movements of the limbs, trunk, and/or neck, which can progress to abnormal postures. Most familial forms of ITD follow autosomal dominant transmission with reduced penetrance. The frequency of ITD in the Ashkenazi Jewish population is five to ten times greater than that in other groups. Recently, a gene for ITD (DYT1) in a non-Jewish kindred was located on chromosome 9q32-34, with tight linkage to the gene encoding gelsolin (GSN). In the present study linkage analysis using DNA polymorphisms is used to locate a gene responsible for susceptibility to ITD in 12 Ashkenazi Jewish families. This dystonia gene exhibits close linkage with the gene encoding argininosuccinate synthetase (ASS), and appears by multipoint analysis to lie in the q32-34 region of chromosome 9, a region that also contains the loci for gelsolin and dopamine-beta-hydroxylase. The same gene may be responsible for ITD both in the non-Jewish kindred mentioned above and in the Ashkenazi Jewish families presented here. However, because there is substantial difference between the penetrance of the dominant allele in these two groups, two different mutations may be operating to produce susceptibility to this disease in the two groups.

[A total of 362 HLA different haplotypes and HLA recombination haplotypes based on analysis of their family pedigree in Chinese partial Han populations].

PubMed

Gao, Su-Qing; Cheng, Xi; Li, Qian; Li, Yu-Zhu; Deng, Zhi-Hui

2009-06-01

This study was aimed to discover the novel HLA recombination haplotypes and investigate the distribution of haplotypes in Chinese Han population. Based on the HLA-A, B, DRB1 typing results of 179 family members, 791 haplotypes were assigned by the mode of inheritance. The results showed that a total of 4 novel recombinant haplotypes in HLA-DRB1 locus region were observed in 4 families, which ratio of paternal to maternal chromosomes was 3:1. The recombination ratio between HLA-DRB1 and HLA-A or B loci was 0.92% (4/433). There were a total of 362 kinds of HLA-A, -B, -DRB1 haplotypes to be confirmed in Chinese Han partial population. A33-B58-DR17, A2-B46-DR9, A30-B13-DR7, A11-B13-DR15, A11-B75-DR12 and A2-B46-DR14 were the most common haplotypes that was consistent with the distribution of HLA alleles in unrelated donors. There were A1-B63-DR12, A29-B46-DR15, A1-B61-DR10, A34-B35-DR9, A29-B54-DR4, A23-B13-DR16 and A34-B62-DR15 haplotypes and so on, which were rare haplotypes not yet reported in Chinese. It is concluded that the HLA-A-B-DRB1 haplotypes would be confirmed by analysis of their family pedigree. The results obtained in this study are basic data for study of Chinese anthropology, organ transplantation and disease correlation analysis.

Contemporary Anglo-Jewish community leadership: coping with multiculturalism.

PubMed

Gidley, Ben; Kahn-Harris, Keith

2012-03-01

In this article, drawing on qualitative interviews and documentary analysis, we argue that the Jewish community in Britain has undergone a fundamental shift since 1990 from a 'strategy of security', a strategy of communal leadership based on emphasizing the secure British citizenship and belonging of the UK's Jews, to a 'strategy of insecurity', where the communal leadership instead stresses an excess of security among Anglo-Jewry. We demonstrate this based on two case studies: of the Jewish renewal movement in the 1990s and the 'new antisemitism' phenomenon of the 2000s. We conclude that this shift is tied to the shift from a monocultural Britain to an officially multicultural one, and that therefore there are lessons that can be taken from it for the study of British and other multiculturalisms. © London School of Economics and Political Science 2012.

Not by bread alone: Lev Vygotsky's Jewish writings.

PubMed

Zavershneva, Ekaterina; van der Veer, René

2018-02-01

On the basis of both published and unpublished manuscripts written from 1914 to 1917, this article gives an overview of Lev Vygotsky's early ideas. It turns out that Vygotsky was very much involved in issues of Jewish culture and politics. Rather surprisingly, the young Vygotsky rejected all contemporary ideas to save the Jewish people from discrimination and persecution by creating an autonomous state in Palestine or elsewhere. Instead, until well into 1917, Vygotsky proposed the rather traditional option of strengthening the spiritual roots of the Jews by returning to the religious writings. Socialism was rejected, because it merely envisioned the compulsory redistribution of material goods and 'man lives not by bread alone'. It was only after the October Revolution that Vygotsky switched from arguments in favour of the religious faith in the Kingship of God to the communist belief in a Radiant Future.

Developing a measure of cultural-, maturity-, or esteem-driven modesty among Jewish women.

PubMed

Andrews, Caryn Scheinberg

2014-01-01

Understanding modesty and how it relates to religiosity among Jewish women was relatively unexplained, and as part of a larger study, a measure was needed. The purpose of this article is to report on three studies which represent the three stages of instrument development of a measure of modesty among Jewish women, "Your Views of Modesty": (a) content/concept definition; (b) instrument development; and (c) evaluation of the psychometric properties of the instrument: reliability and validity. In Study I, Q methodology was used to define the domain and results suggesting that modesty has multidimensions. In Study II, an instrument was developed based on distinctive perspectives from each group or what was important and not so important. This formed a 25-item Likert scale. In Study III, a survey of 300 Jewish women revealed internal consistency estimates with Cronbach's alpha 0.92, indicating high degree of internal consistency reliability for "Your Views of Modesty." For construct validity, four factors were found explaining 55% of the variance of modesty: (a) religion-driven, (b) maturity-driven, (c) esteem-driven, and (d) public-based modesty was identified. "Your Views of Modesty" shows good evidence for reliability and validity in this Jewish population.

Haplotype Reconstruction in Large Pedigrees with Many Untyped Individuals

NASA Astrophysics Data System (ADS)

Li, Xin; Li, Jing

Haplotypes, as they specify the linkage patterns between dispersed genetic variations, provide important information for understanding the genetics of human traits. However haplotypes are not directly available from current genotyping platforms, and hence there are extensive investigations of computational methods to recover such information. Two major computational challenges arising in current family-based disease studies are large family sizes and many ungenotyped family members. Traditional haplotyping methods can neither handle large families nor families with missing members. In this paper, we propose a method which addresses these issues by integrating multiple novel techniques. The method consists of three major components: pairwise identical-bydescent (IBD) inference, global IBD reconstruction and haplotype restoring. By reconstructing the global IBD of a family from pairwise IBD and then restoring the haplotypes based on the inferred IBD, this method can scale to large pedigrees, and more importantly it can handle families with missing members. Compared with existing methods, this method demonstrates much higher power to recover haplotype information, especially in families with many untyped individuals.

Long-distance plant dispersal to North Atlantic islands: colonization routes and founder effect

PubMed Central

Alsos, Inger Greve; Ehrich, Dorothee; Eidesen, Pernille Bronken; Solstad, Heidi; Westergaard, Kristine Bakke; Schönswetter, Peter; Tribsch, Andreas; Birkeland, Siri; Elven, Reidar; Brochmann, Christian

2015-01-01

Long-distance dispersal (LDD) processes influence the founder effect on islands. We use genetic data for 25 Atlantic species and similarities among regional floras to analyse colonization, and test whether the genetic founder effect on five islands is associated with dispersal distance, island size and species traits. Most species colonized postglacially via multiple dispersal events from several source regions situated 280 to >3000 km away, and often not from the closest ones. A strong founder effect was observed for insect-pollinated mixed maters, and it increased with dispersal distance and decreased with island size in accordance with the theory of island biogeography. Only a minor founder effect was observed for wind-pollinated outcrossing species. Colonization patterns were largely congruent, indicating that despite the importance of stochasticity, LDD is mainly determined by common factors, probably dispersal vectors. Our findings caution against a priori assuming a single, close source region in biogeographic analyses. PMID:25876627

Long-distance plant dispersal to North Atlantic islands: colonization routes and founder effect.

PubMed

Alsos, Inger Greve; Ehrich, Dorothee; Eidesen, Pernille Bronken; Solstad, Heidi; Westergaard, Kristine Bakke; Schönswetter, Peter; Tribsch, Andreas; Birkeland, Siri; Elven, Reidar; Brochmann, Christian

2015-04-15

Long-distance dispersal (LDD) processes influence the founder effect on islands. We use genetic data for 25 Atlantic species and similarities among regional floras to analyse colonization, and test whether the genetic founder effect on five islands is associated with dispersal distance, island size and species traits. Most species colonized postglacially via multiple dispersal events from several source regions situated 280 to >3000 km away, and often not from the closest ones. A strong founder effect was observed for insect-pollinated mixed maters, and it increased with dispersal distance and decreased with island size in accordance with the theory of island biogeography. Only a minor founder effect was observed for wind-pollinated outcrossing species. Colonization patterns were largely congruent, indicating that despite the importance of stochasticity, LDD is mainly determined by common factors, probably dispersal vectors. Our findings caution against a priori assuming a single, close source region in biogeographic analyses. Published by Oxford University Press on behalf of the Annals of Botany Company.

Holding the Center: How One Jewish Day School Negotiates Differences in a Pluralistic Community

ERIC Educational Resources Information Center

Selis, Allen Harold

2010-01-01

This study centers on the experiences of students and religious study faculty in the high school division of "CDS," a successful Kindergarten through Twelfth grade Jewish day school that defines itself as a "community" institution. The school affirms a high-profile commitment to including "the widest spectrum of Jewish practice and belief" in its…

Teachers' Study Guide: The American Jewish Writer. The Image of the Jew in Literature.

ERIC Educational Resources Information Center

Mersand, Joseph; Zara, Louis

This guide was prepared to give an historical as well as a contemporary perspective on American Jewish authors and their writings. An introductory section presents information on such authors as Saul Bellow, Bernard Malamud, and Philip Roth; on the unique problems which Jewish writers have encountered in America; and on the breadth of current…

A parsimonious tree-grow method for haplotype inference.

PubMed

Li, Zhenping; Zhou, Wenfeng; Zhang, Xiang-Sun; Chen, Luonan

2005-09-01

Haplotype information has become increasingly important in analyzing fine-scale molecular genetics data, such as disease genes mapping and drug design. Parsimony haplotyping is one of haplotyping problems belonging to NP-hard class. In this paper, we aim to develop a novel algorithm for the haplotype inference problem with the parsimony criterion, based on a parsimonious tree-grow method (PTG). PTG is a heuristic algorithm that can find the minimum number of distinct haplotypes based on the criterion of keeping all genotypes resolved during tree-grow process. In addition, a block-partitioning method is also proposed to improve the computational efficiency. We show that the proposed approach is not only effective with a high accuracy, but also very efficient with the computational complexity in the order of O(m2n) time for n single nucleotide polymorphism sites in m individual genotypes. The software is available upon request from the authors, or from http://zhangroup.aporc.org/bioinfo/ptg/ chen@elec.osaka-sandai.ac.jp Supporting materials is available from http://zhangroup.aporc.org/bioinfo/ptg/bti572supplementary.pdf

In Vivo Characterization of Human APOA5 Haplotypes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ahituv, Nadav; Akiyama, Jennifer; Chapman-Helleboid, Audrey

2006-10-01

Increased plasma triglycerides concentrations are an independent risk factor for cardiovascular disease. Numerous studies support a reproducible genetic association between two minor haplotypes in the human apolipoprotein A5 gene (APOA5) and increased plasma triglyceride concentrations. We thus sought to investigate the effect of these minor haplotypes (APOA5*2 and APOA5*3) on ApoAV plasma levels through the precise insertion of single-copy intact APOA5 haplotypes at a targeted location in the mouse genome. While we found no difference in the amount of human plasma ApoAV in mice containing the common APOA5*1 and minor APOA5*2 haplotype, the introduction of the single APOA5*3 defining allelemore » (19W) resulted in 3-fold lower ApoAV plasma levels consistent with existing genetic association studies. These results indicate that S19W polymorphism is likely to be functional and explain the strong association of this variant with plasma triglycerides supporting the value of sensitive in vivo assays to define the functional nature of human haplotypes.« less

Detecting disease-predisposing variants: the haplotype method.

PubMed Central

Valdes, A M; Thomson, G

1997-01-01

For many HLA-associated diseases, multiple alleles-- and, in some cases, multiple loci--have been suggested as the causative agents. The haplotype method for identifying disease-predisposing amino acids in a genetic region is a stratification analysis. We show that, for each haplotype combination containing all the amino acid sites involved in the disease process, the relative frequencies of amino acid variants at sites not involved in disease but in linkage disequilibrium with the disease-predisposing sites are expected to be the same in patients and controls. The haplotype method is robust to mode of inheritance and penetrance of the disease and can be used to determine unequivocally whether all amino acid sites involved in the disease have not been identified. Using a resampling technique, we developed a statistical test that takes account of the nonindependence of the sites sampled. Further, when multiple sites in the genetic region are involved in disease, the test statistic gives a closer fit to the null expectation when some--compared with none--of the true predisposing factors are included in the haplotype analysis. Although the haplotype method cannot distinguish between very highly correlated sites in one population, ethnic comparisons may help identify the true predisposing factors. The haplotype method was applied to insulin-dependent diabetes mellitus (IDDM) HLA class II DQA1-DQB1 data from Caucasian, African, and Japanese populations. Our results indicate that the combination DQA1#52 (Arg predisposing) DQB1#57 (Asp protective), which has been proposed as an important IDDM agent, does not include all the predisposing elements. With rheumatoid arthritis HLA class II DRB1 data, the results were consistent with the shared-epitope hypothesis. PMID:9042931

The Role of Heroes in Jewish Education

ERIC Educational Resources Information Center

Resnick, David

2002-01-01

Rosenak has shown that contemporary Jewish education must negotiate the tension between relevance and authenticity. For those who embrace authenticity as a goal, education is often mediated through heroes--who are ideal cultural types. Such education is hampered by the diminution of heroes in contemporary culture: The hero has been replaced by the…

Jewish Studies: A Guide to Reference Sources.

ERIC Educational Resources Information Center

McGill Univ., Montreal (Quebec). McLennan Library.

An annotated bibliography to the reference sources for Jewish Studies in the McLennan Library of McGill University (Canada) is presented. Any titles in Hebrew characters are listed by their transliterated equivalents. There is also a list of relevant Library of Congress Subject Headings. General reference sources listed are: encyclopedias,…

A Therapist's Perspective on Jewish Family Values

ERIC Educational Resources Information Center

Zuk, Gerald H.

1978-01-01

Family therapy has been deficient in accounting for the impact of ethnic, religious, and racial values on success or failure in treating families. Jewish families respond well in family therapy due to a set of values. An individual's neurotic disposition may evolve from conflicts between family values and independent identity. (Author/JEL)

The Student Voice in Designing a Jewish Studies High School Curriculum: A Case Study

ERIC Educational Resources Information Center

Kohn, Eli

2017-01-01

In January 2012, a team of curriculum specialists based at Bar Ilan University in Israel were approached by a Jewish day school in Australia to design a new Jewish Studies curriculum for its school. The mandate was to design a curriculum model from first-steps that would form the basis for the new curriculum. This article demonstrates how…

Kullback-Leibler divergence for detection of rare haplotype common disease association.

PubMed

Lin, Shili

2015-11-01

Rare haplotypes may tag rare causal variants of common diseases; hence, detection of such rare haplotypes may also contribute to our understanding of complex disease etiology. Because rare haplotypes frequently result from common single-nucleotide polymorphisms (SNPs), focusing on rare haplotypes is much more economical compared with using rare single-nucleotide variants (SNVs) from sequencing, as SNPs are available and 'free' from already amassed genome-wide studies. Further, associated haplotypes may shed light on the underlying disease causal mechanism, a feat unmatched by SNV-based collapsing methods. In recent years, data mining approaches have been adapted to detect rare haplotype association. However, as they rely on an assumed underlying disease model and require the specification of a null haplotype, results can be erroneous if such assumptions are violated. In this paper, we present a haplotype association method based on Kullback-Leibler divergence (hapKL) for case-control samples. The idea is to compare haplotype frequencies for the cases versus the controls by computing symmetrical divergence measures. An important property of such measures is that both the frequencies and logarithms of the frequencies contribute in parallel, thus balancing the contributions from rare and common, and accommodating both deleterious and protective, haplotypes. A simulation study under various scenarios shows that hapKL has well-controlled type I error rates and good power compared with existing data mining methods. Application of hapKL to age-related macular degeneration (AMD) shows a strong association of the complement factor H (CFH) gene with AMD, identifying several individual rare haplotypes with strong signals.

The centrality of guilt: working with ultra-orthodox Jewish patients in Israel.

PubMed

Hess, Esther

2014-09-01

The ultra-orthodox Jewish (Haredi) community in Israel is characterized by strict observance of the requirements of orthodox Jewish life. Psychoanalytic psychotherapy within this community brings us into contact with guilt as a central emotion throughout the therapeutic process. The exposure to new concepts, ways of thought and a previously unknown space, together with increased awareness of internal wishes and drives, are experienced as forbidden areas that arouse an awakening of conscience and a sense of guilt. The author's cases illustrate these conflicts.

A Virtual "Veibershul": Blogging and the Blurring of Public and Private among Orthodox Jewish Women

ERIC Educational Resources Information Center

Lieber, Andrea

2010-01-01

A series of articles appearing in English-language Jewish newspapers in the United States and the United Kingdom have recently announced the "blogosphere"--the world of discourse propelled by the technological innovation of online interactive diaries known as "weblogs"--as a new liberating arena for Orthodox Jewish women. In…

Serial Founder Effects During Range Expansion: A Spatial Analog of Genetic Drift

PubMed Central

Slatkin, Montgomery; Excoffier, Laurent

2012-01-01

Range expansions cause a series of founder events. We show that, in a one-dimensional habitat, these founder events are the spatial analog of genetic drift in a randomly mating population. The spatial series of allele frequencies created by successive founder events is equivalent to the time series of allele frequencies in a population of effective size ke, the effective number of founders. We derive an expression for ke in a discrete-population model that allows for local population growth and migration among established populations. If there is selection, the net effect is determined approximately by the product of the selection coefficients and the number of generations between successive founding events. We use the model of a single population to compute analytically several quantities for an allele present in the source population: (i) the probability that it survives the series of colonization events, (ii) the probability that it reaches a specified threshold frequency in the last population, and (iii) the mean and variance of the frequencies in each population. We show that the analytic theory provides a good approximation to simulation results. A consequence of our approximation is that the average heterozygosity of neutral alleles decreases by a factor of 1 – 1/(2ke) in each new population. Therefore, the population genetic consequences of surfing can be predicted approximately by the effective number of founders and the effective selection coefficients, even in the presence of migration among populations. We also show that our analytic results are applicable to a model of range expansion in a continuously distributed population. PMID:22367031

Serial founder effects during range expansion: a spatial analog of genetic drift.

PubMed

Slatkin, Montgomery; Excoffier, Laurent

2012-05-01

Range expansions cause a series of founder events. We show that, in a one-dimensional habitat, these founder events are the spatial analog of genetic drift in a randomly mating population. The spatial series of allele frequencies created by successive founder events is equivalent to the time series of allele frequencies in a population of effective size ke, the effective number of founders. We derive an expression for ke in a discrete-population model that allows for local population growth and migration among established populations. If there is selection, the net effect is determined approximately by the product of the selection coefficients and the number of generations between successive founding events. We use the model of a single population to compute analytically several quantities for an allele present in the source population: (i) the probability that it survives the series of colonization events, (ii) the probability that it reaches a specified threshold frequency in the last population, and (iii) the mean and variance of the frequencies in each population. We show that the analytic theory provides a good approximation to simulation results. A consequence of our approximation is that the average heterozygosity of neutral alleles decreases by a factor of 1-1/(2ke) in each new population. Therefore, the population genetic consequences of surfing can be predicted approximately by the effective number of founders and the effective selection coefficients, even in the presence of migration among populations. We also show that our analytic results are applicable to a model of range expansion in a continuously distributed population.

Gay, Orthodox, and trembling: the rise of Jewish Orthodox gay consciousness, 1970s-2000s.

PubMed

Ariel, Yaakov

2007-01-01

In 2001, the documentary movie, Trembling Before God, was played in Jewish and gay film festivals around the world, provoking strong emotional reactions. Trembling Before God comprises interviews with Orthodox Jewish gay and lesbian persons who vividly and movingly describe their struggles to live their lives as observant Jewish people, being faithful at the same time to their sexual desires and their religious tradition. Almost all the people interviewed in the movie expressed mixed emotions: love towards their tradition and attachment to their community of faith, coupled with resentment against a community, which in their eyes failed to respond with understanding to their emotional needs, thus adding to their pain. This article aims to modify the picture portrayed in the movie. The dilemmas and struggles of gays and lesbians who live their lives in Orthodox Jewish communities are indeed real. Orthodox gays and lesbians experience a greater dissonance between their sexuality and the values of their community and therefore face more anxieties and inner turmoils than gays and lesbians who live in more permissive environments. The struggles of gay and lesbian Orthodox Jews, however, are not necessarily greater than those of gays and lesbians who live their lives in other conservative communities. In fact, while it is almost impossible to be a sexually active gay or lesbian and a practicing Southern Baptist, Seventh-Day Adventist, Jehovah's Witness, or Mormon, it is not impossible for gays and lesbians to live their lives in an Orthodox Jewish environment. Amazingly, since the 1970s, thousands of gays and lesbians have given up on liberal environments and joined the ranks of traditionalist Jewish congregations.

Breast and Ovarian Cancer Risk and Risk Reduction in Jewish BRCA1/2 Mutation Carriers

PubMed Central

Finkelman, Brian S.; Rubinstein, Wendy S.; Friedman, Sue; Friebel, Tara M.; Dubitsky, Shera; Schonberger, Niecee Singer; Shoretz, Rochelle; Singer, Christian F.; Blum, Joanne L.; Tung, Nadine; Olopade, Olufunmilayo I.; Weitzel, Jeffrey N.; Lynch, Henry T.; Snyder, Carrie; Garber, Judy E.; Schildkraut, Joellen; Daly, Mary B.; Isaacs, Claudine; Pichert, Gabrielle; Neuhausen, Susan L.; Couch, Fergus J.; van't Veer, Laura; Eeles, Rosalind; Bancroft, Elizabeth; Evans, D. Gareth; Ganz, Patricia A.; Tomlinson, Gail E.; Narod, Steven A.; Matloff, Ellen; Domchek, Susan; Rebbeck, Timothy R.

2012-01-01

Purpose Mutations in BRCA1/2 dramatically increase the risk of both breast and ovarian cancers. Three mutations in these genes (185delAG, 5382insC, and 6174delT) occur at high frequency in Ashkenazi Jews. We evaluated how these common Jewish mutations (CJMs) affect cancer risks and risk reduction. Methods Our cohort comprised 4,649 women with disease-associated BRCA1/2 mutations from 22 centers in the Prevention and Observation of Surgical End Points Consortium. Of these women, 969 were self-identified Jewish women. Cox proportional hazards models were used to estimate breast and ovarian cancer risks, as well as risk reduction from risk-reducing salpingo-oophorectomy (RRSO), by CJM and self-identified Jewish status. Results Ninety-one percent of Jewish BRCA1/2-positive women carried a CJM. Jewish women were significantly more likely to undergo RRSO than non-Jewish women (54% v 41%, respectively; odds ratio, 1.87; 95% CI, 1.44 to 2.42). Relative risks of cancer varied by CJM, with the relative risk of breast cancer being significantly lower in 6174delT mutation carriers than in non-CJM BRCA2 carriers (hazard ratio, 0.35; 95% CI, 0.18 to 0.69). No significant difference was seen in cancer risk reduction after RRSO among subgroups. Conclusion Consistent with previous results, risks for breast and ovarian cancer varied by CJM in BRCA1/2 carriers. In particular, 6174delT carriers had a lower risk of breast cancer. This finding requires additional confirmation in larger prospective and population-based cohort studies before being integrated into clinical care. PMID:22430266

Founder effect in 20 Afrikaner kindreds with pseudoxanthoma elasticum.

PubMed

Torrington, M; Viljoen, D L

1991-01-05

The pedigrees of 20 families with pseudoxanthoma elasticum (PXE) were investigated. The analyses involved 13 generations up to and including the initial settlers, who arrived in the Cape before 1660. Four settler surnames predominate in these pedigrees. Because of the marriage patterns of the settlers' descendants it was necessary to classify the four surnames into two groups. It is suggested that these two groups are the founder groups of present-day PXE patients. Similar genealogical studies have been performed on kindreds with familial polyposis, familial heart block and familial hypercholesterolaemia, among other disorders. Due to geographical isolation, political developments and cultural factors in the Afrikaner, these investigations are feasible and often lead to the identification of founder origin.

Evaluating the importance of metamorphism in the foundering of continental crust.

PubMed

Chapman, Timothy; Clarke, Geoffrey L; Piazolo, Sandra; Daczko, Nathan R

2017-10-12

The metamorphic conditions and mechanisms required to induce foundering in deep arc crust are assessed using an example of representative lower crust in SW New Zealand. Composite plutons of Cretaceous monzodiorite and gabbro were emplaced at ~1.2 and 1.8 GPa are parts of the Western Fiordland Orthogneiss (WFO); examples of the plutons are tectonically juxtaposed along a structure that excised ~25 km of crust. The 1.8 GPa Breaksea Orthogneiss includes suitably dense minor components (e.g. eclogite) capable of foundering at peak conditions. As the eclogite facies boundary has a positive dP/dT, cooling from supra-solidus conditions (T > 950 ºC) at high-P should be accompanied by omphacite and garnet growth. However, a high monzodioritic proportion and inefficient metamorphism in the Breaksea Orthogneiss resulted in its positive buoyancy and preservation. Metamorphic inefficiency and compositional relationships in the 1.2 GPa Malaspina Pluton meant it was never likely to have developed densities sufficiently high to founder. These relationships suggest that the deep arc crust must have primarily involved significant igneous accumulation of garnet-clinopyroxene (in proportions >75%). Crustal dismemberment with or without the development of extensional shear zones is proposed to have induced foundering of excised cumulate material at P > 1.2 GPa.

Spiritual Criminology: The Case of Jewish Criminology.

PubMed

Ronel, Natti; Ben Yair, Y

2018-05-01

Throughout the ages and in most cultures, spiritual and religious thinking have dealt extensively with offending (person against person and person against the Divine), the response to offending, and rehabilitation of offenders. Although modern criminology has generally overlooked that body of knowledge and experience, the study of spirituality and its relation to criminology is currently growing. Frequently, though, it is conducted from the secular scientific perspective, thus reducing spiritual knowledge into what is already known. Our aim here is to present a complementary perspective; that is, spiritual criminology that emerges from the spiritual perspective. Following a description of the state-of-the-art in criminological research concerning spirituality and its impact upon individuals, we focus on Jewish criminology as an illustrative case study, and present a spiritual Jewish view on good and evil, including factors that lead to criminality, the issue of free choice, the aim of punishment and societal response, crime desistance, rehabilitation, and prevention. The proposed establishment of spiritual criminology can be further developed by including parallel schools of spirituality, to create an integrated field in criminology.

Genetic portrait of Jewish populations based on three sets of X-chromosome markers: Indels, Alu insertions and STRs.

PubMed

Ferragut, J F; Bentayebi, K; Pereira, R; Castro, J A; Amorim, A; Ramon, C; Picornell, A

2017-11-01

Population genetic data for 53 X-chromosome markers (32 X-indels, 9 X-Alu insertions and 12 X-STRs) are reported for five populations with Jewish ancestry (Sephardim, North African Jews, Middle Eastern Jews, Ashkenazim, and Chuetas) and Majorca, as the host population of Chuetas. Genetic distances between these populations demonstrated significant differences, except between Sephardic and North African Jews, with the Chuetas as the most differentiated group, in accordance with the particular demographic history of this population. X-chromosome analysis and a comparison with autosomal data suggest a generally sex-biased demographic history in Jewish populations. Asymmetry was found between female and male effective population sizes both in the admixture processes between Jewish communities, and between them and their respective non-Jewish host populations. Results further show that these X-linked markers are highly informative for forensic purposes, and highlight the need for specific databases for differentiated Jewish populations. Copyright © 2017 Elsevier B.V. All rights reserved.

Team-Based Simulation: Toward Developing Ethical Guidelines among American and Israeli Teachers in Jewish Schools

ERIC Educational Resources Information Center

Shapira-Lishchinsky, Orly; Glanz, Jeffrey; Shaer, Anat

2016-01-01

This study attempts to explore Israeli and American teachers' perceptions based on their ethical dilemmas in Jewish schools. A cross-national study was undertaken in Jewish schools, examining fifty teachers from Israel and fifty-one teachers from the United States. Designed with team-based simulations, this study revealed strong similarities…

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

PubMed

Castellsagué, E; Liu, J; Volenik, A; Giroux, S; Gagné, R; Maranda, B; Roussel-Jobin, A; Latreille, J; Laframboise, R; Palma, L; Kasprzak, L; Marcus, V A; Breguet, M; Nolet, S; El-Haffaf, Z; Australie, K; Gologan, A; Aleynikova, O; Oros-Klein, K; Greenwood, C; Mes-Masson, A M; Provencher, D; Tischkowitz, M; Chong, G; Rousseau, F; Foulkes, W D

2015-06-01

We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. We aimed to investigate the molecular and clinical implications of this mutation among FC carriers and to assess its putative founder origin. We studied 11 probands and 27 family members. Additionally 6433 newborns, 187 colorectal cancer (CRC) cases, 381 endometrial cancer (EC) cases and 179 additional controls, all of them from Quebec, were used. Found in approximately 1 of 400 newborns, the mutation is one of the most common LS mutations described. We have found that this mutation confers a greater risk for EC than for CRC, both in the 11 studied families and in the unselected cases: EC [odds ratio (OR) = 7.5, p < 0.0001] and CRC (OR = 2.2, p = 0.46). Haplotype analyses showed that the mutation arose in a common ancestor, probably around 430-656 years ago, coinciding with the arrival of the first French settlers. Application of the results of this study could significantly improve the molecular testing and clinical management of LS families in Quebec. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

HaploForge: a comprehensive pedigree drawing and haplotype visualization web application.

PubMed

Tekman, Mehmet; Medlar, Alan; Mozere, Monika; Kleta, Robert; Stanescu, Horia

2017-12-15

Haplotype reconstruction is an important tool for understanding the aetiology of human disease. Haplotyping infers the most likely phase of observed genotypes conditional on constraints imposed by the genotypes of other pedigree members. The results of haplotype reconstruction, when visualized appropriately, show which alleles are identical by descent despite the presence of untyped individuals. When used in concert with linkage analysis, haplotyping can help delineate a locus of interest and provide a succinct explanation for the transmission of the trait locus. Unfortunately, the design choices made by existing haplotype visualization programs do not scale to large numbers of markers. Indeed, following haplotypes from generation to generation requires excessive scrolling back and forth. In addition, the most widely used program for haplotype visualization produces inconsistent recombination artefacts for the X chromosome. To resolve these issues, we developed HaploForge, a novel web application for haplotype visualization and pedigree drawing. HaploForge takes advantage of HTML5 to be fast, portable and avoid the need for local installation. It can accurately visualize autosomal and X-linked haplotypes from both outbred and consanguineous pedigrees. Haplotypes are coloured based on identity by descent using a novel A* search algorithm and we provide a flexible viewing mode to aid visual inspection. HaploForge can currently process haplotype reconstruction output from Allegro, GeneHunter, Merlin and Simwalk. HaploForge is licensed under GPLv3 and is hosted and maintained via GitHub. https://github.com/mtekman/haploforge. r.kleta@ucl.ac.uk. Supplementary data are available at Bioinformatics online. © The Author (2017). Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com

Approaches to Conflict Resolution between Ethnic and National Groups in Israel: Arab/Jewish and Western/Middle-Eastern Jewish Youth.

ERIC Educational Resources Information Center

Amir, Yehuda; Ben-Ari, Rachel

This paper discusses the means by which youth of conflicting nationalities may be taught to live together in Israel with mutual understanding and respect. The first part of the paper focuses on relations between Jewish and Arab youth, and suggests guidelines for designing a cross-cultural learning project to improve the relations between these…

Geographic Distribution of Disease Mutations in the Ashkenazi Jewish Population Supports Genetic Drift over Selection

PubMed Central

Risch, Neil; Tang, Hua; Katzenstein, Howard; Ekstein, Josef

2003-01-01

The presence of four lysosomal storage diseases (LSDs) at increased frequency in the Ashkenazi Jewish population has suggested to many the operation of natural selection (carrier advantage) as the driving force. We compare LSDs and nonlysosomal storage diseases (NLSDs) in terms of the number of mutations, allele-frequency distributions, and estimated coalescence dates of mutations. We also provide new data on the European geographic distribution, in the Ashkenazi population, of seven LSD and seven NLSD mutations. No differences in any of the distributions were observed between LSDs and NLSDs. Furthermore, no regular pattern of geographic distribution was observed for LSD versus NLSD mutations—with some being more common in central Europe and others being more common in eastern Europe, within each group. The most striking disparate pattern was the geographic distribution of the two primary Tay-Sachs disease mutations, with the first being more common in central Europe (and likely older) and the second being exclusive to eastern Europe (primarily Lithuania and Russia) (and likely much younger). The latter demonstrates a pattern similar to two other recently arisen Lithuanian mutations, those for torsion dystonia and familial hypercholesterolemia. These observations provide compelling support for random genetic drift (chance founder effects, one ∼11 centuries ago that affected all Ashkenazim and another ∼5 centuries ago that affected Lithuanians), rather than selection, as the primary determinant of disease mutations in the Ashkenazi population. PMID:12612865

Pre-modern Islamic medical ethics and Graeco-Islamic-Jewish embryology.

PubMed

Ghaly, Mohammed

2014-02-01

This article examines the, hitherto comparatively unexplored, reception of Greek embryology by medieval Muslim jurists. The article elaborates on the views attributed to Hippocrates (d. ca. 375 BC), which received attention from both Muslim physicians, such as Avicenna (d. 1037), and their Jewish peers living in the Muslim world including Ibn Jumay' (d. ca. 1198) and Moses Maimonides (d. 1204). The religio-ethical implications of these Graeco-Islamic-Jewish embryological views were fathomed out by the two medieval Muslim jurists Shihāb al-Dīn al-Qarāfī (d. 1285) and Ibn al-Qayyim (d. 1350). By putting these medieval religio-ethical discussions into the limelight, the article aims to argue for a two-pronged thesis. Firstly, pre-modern medical ethics did exist in the Islamic tradition and available evidence shows that this field had a multidisciplinary character where the Islamic scriptures and the Graeco-Islamic-Jewish medical legacy were highly intertwined. This information problematizes the postulate claiming that medieval Muslim jurists were hostile to the so-called 'ancient sciences'. Secondly, these medieval religio-ethical discussions remain playing a significant role in shaping the nascent field of contemporary Islamic bioethics. However, examining the exact character and scope of this role still requires further academic ventures. © 2013 John Wiley & Sons Ltd.

A new mathematical modeling for pure parsimony haplotyping problem.

PubMed

Feizabadi, R; Bagherian, M; Vaziri, H R; Salahi, M

2016-11-01

Pure parsimony haplotyping (PPH) problem is important in bioinformatics because rational haplotyping inference plays important roles in analysis of genetic data, mapping complex genetic diseases such as Alzheimer's disease, heart disorders and etc. Haplotypes and genotypes are m-length sequences. Although several integer programing models have already been presented for PPH problem, its NP-hardness characteristic resulted in ineffectiveness of those models facing the real instances especially instances with many heterozygous sites. In this paper, we assign a corresponding number to each haplotype and genotype and based on those numbers, we set a mixed integer programing model. Using numbers, instead of sequences, would lead to less complexity of the new model in comparison with previous models in a way that there are neither constraints nor variables corresponding to heterozygous nucleotide sites in it. Experimental results approve the efficiency of the new model in producing better solution in comparison to two state-of-the art haplotyping approaches. Copyright © 2016 Elsevier Inc. All rights reserved.

Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening.

PubMed

Grinzaid, Karen Arnovitz; Page, Patricia Zartman; Denton, Jessica Johnson; Ginsberg, Jessica

2015-06-01

Ethnicity-based carrier screening for the Ashkenazi Jewish population has been available and encouraged by advocacy and community groups since the early 1970's. Both the American College of Medical Genetics and the American Congress of Obstetricians and Gynecologists recommend carrier screening for this population (Obstetrics and Gynecology, 114(4), 950-953, 2009; Genetics in Medicine, 10(1), 55-56, 2008). While many physicians inquire about ethnic background and offer appropriate carrier screening, studies show that a gap remains in implementing recommendations (Genetic testing and molecular biomarkers, 2011). In addition, education and outreach efforts targeting Jewish communities have had limited success in reaching this at-risk population. Despite efforts by the medical and Jewish communities, many Jews of reproductive age are not aware of screening, and remain at risk for having children with preventable diseases. Reaching this population, preferably pre-conception, and facilitating access to screening is critically important. To address this need, genetic counselors at Emory University developed JScreen, a national Jewish genetic disease screening program. The program includes a national marketing and PR campaign, online education, at-home saliva-based screening, post-test genetic counseling via telephone or secure video conferencing, and referrals for face-to-face genetic counseling as needed. Our goals are to create a successful education and screening program for this population and to develop a model that could potentially be used for other at-risk populations.

Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry.

PubMed

Atzmon, Gil; Hao, Li; Pe'er, Itsik; Velez, Christopher; Pearlman, Alexander; Palamara, Pier Francesco; Morrow, Bernice; Friedman, Eitan; Oddoux, Carole; Burns, Edward; Ostrer, Harry

2010-06-11

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15th century to 5,000,000 people at the beginning of the 19th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads.

Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

PubMed Central

Atzmon, Gil; Hao, Li; Pe'er, Itsik; Velez, Christopher; Pearlman, Alexander; Palamara, Pier Francesco; Morrow, Bernice; Friedman, Eitan; Oddoux, Carole; Burns, Edward; Ostrer, Harry

2010-01-01

For more than a century, Jews and non-Jews alike have tried to define the relatedness of contemporary Jewish people. Previous genetic studies of blood group and serum markers suggested that Jewish groups had Middle Eastern origin with greater genetic similarity between paired Jewish populations. However, these and successor studies of monoallelic Y chromosomal and mitochondrial genetic markers did not resolve the issues of within and between-group Jewish genetic identity. Here, genome-wide analysis of seven Jewish groups (Iranian, Iraqi, Syrian, Italian, Turkish, Greek, and Ashkenazi) and comparison with non-Jewish groups demonstrated distinctive Jewish population clusters, each with shared Middle Eastern ancestry, proximity to contemporary Middle Eastern populations, and variable degrees of European and North African admixture. Two major groups were identified by principal component, phylogenetic, and identity by descent (IBD) analysis: Middle Eastern Jews and European/Syrian Jews. The IBD segment sharing and the proximity of European Jews to each other and to southern European populations suggested similar origins for European Jewry and refuted large-scale genetic contributions of Central and Eastern European and Slavic populations to the formation of Ashkenazi Jewry. Rapid decay of IBD in Ashkenazi Jewish genomes was consistent with a severe bottleneck followed by large expansion, such as occurred with the so-called demographic miracle of population expansion from 50,000 people at the beginning of the 15th century to 5,000,000 people at the beginning of the 19th century. Thus, this study demonstrates that European/Syrian and Middle Eastern Jews represent a series of geographical isolates or clusters woven together by shared IBD genetic threads. PMID:20560205

Putting context into a cultural perspective: examining Arab and Jewish adolescents' judgments and reasoning about spousal retribution.

PubMed

Pitner, Ronald O; Astor, Ron Avi; Benbenishty, Rami; Haj-Yahia, Muhammad M; Zeira, Anat

2011-05-01

In this study, we examined what contextual factors influence adolescents' judgments and reasoning about spousal retribution. Adolescents were drawn from Central and Northern Israel and consisted of 2,324 Arab and Jewish students (Grades 7-11). The study was set up in a 2 (Arab/Jewish respondent) × 2 (spousal retribution scenarios) factorial design. Our findings suggest that societal and cultural norms may be more powerful contextual variables than group stereotypes in influencing Arab and Jewish adolescents' evaluations of spousal retribution. Theoretical and practical implications are discussed.

Haplotype assembly in polyploid genomes and identical by descent shared tracts.

PubMed

Aguiar, Derek; Istrail, Sorin

2013-07-01

Genome-wide haplotype reconstruction from sequence data, or haplotype assembly, is at the center of major challenges in molecular biology and life sciences. For complex eukaryotic organisms like humans, the genome is vast and the population samples are growing so rapidly that algorithms processing high-throughput sequencing data must scale favorably in terms of both accuracy and computational efficiency. Furthermore, current models and methodologies for haplotype assembly (i) do not consider individuals sharing haplotypes jointly, which reduces the size and accuracy of assembled haplotypes, and (ii) are unable to model genomes having more than two sets of homologous chromosomes (polyploidy). Polyploid organisms are increasingly becoming the target of many research groups interested in the genomics of disease, phylogenetics, botany and evolution but there is an absence of theory and methods for polyploid haplotype reconstruction. In this work, we present a number of results, extensions and generalizations of compass graphs and our HapCompass framework. We prove the theoretical complexity of two haplotype assembly optimizations, thereby motivating the use of heuristics. Furthermore, we present graph theory-based algorithms for the problem of haplotype assembly using our previously developed HapCompass framework for (i) novel implementations of haplotype assembly optimizations (minimum error correction), (ii) assembly of a pair of individuals sharing a haplotype tract identical by descent and (iii) assembly of polyploid genomes. We evaluate our methods on 1000 Genomes Project, Pacific Biosciences and simulated sequence data. HapCompass is available for download at http://www.brown.edu/Research/Istrail_Lab/. Supplementary data are available at Bioinformatics online.

Moral judgments about Jewish-Arab intergroup exclusion: The role of cultural identity and contact

PubMed Central

Brenick, Alaina; Killen, Melanie

2014-01-01

Prejudice and discrimination as justifications for social exclusion are often viewed as violations of the moral principles of welfare, justice, and equality but intergroup exclusion can also often be viewed as a necessary and legitimate means to maintain group identity and cohesion (Rutland, Killen, & Abrams, 2010). The current study was guided by the Social Reasoning Developmental perspective (Killen & Rutland, 2011) to examine the moral judgments of social exclusion encounters, and the degree to which cultural identity and actual contact with members of other cultural groups is related to social evaluations. Surprisingly, no research has examined how intergroup contact bears on moral judgments about Jewish-Arab encounters in the U.S. The present study surveyed 241 Jewish and 249 non-Arab/non-Jewish (comparison group) 14 and 17 year olds to assess their cultural identification, intergroup contact, and moral judgments regarding intergroup peer social exclusion situations between Jewish and Arab youth in peer, home, and community contexts. Participants overwhelmingly rejected exclusion of an outgroup member explicitly because of their group membership, though male and Jewish participants were more accepting of such exclusion and less accepting of including an outgroup member. Context effects emerged, and exclusion was rated as most acceptable in the community context and least acceptable in the peer context. Three factors of identity (i.e., exploration, commitment, and concern for relationships) were explored. Generally, higher identity commitment and lower identity concern for relationships were related to more inclusive evaluations. Interactions between the identity factors and intergroup contact and cultural group, however, differentially predicted evaluations of intergroup exclusion. PMID:24188040

BCL11A Enhancer Haplotypes and Fetal Hemoglobin in Sickle Cell Anemia

PubMed Central

Sebastiani, P.; Farrell, J.J.; Alsultan, A.; Wang, S.; Edward, H. L.; Shappell, H.; Bae, H.; Milton, J. N.; Baldwin, C.T.; Al-Rubaish, A.M.; Naserullah, Z.; Al-Muhanna, F.; Alsuliman, A.; Patra, P. K.; Farrer, L.A.; Ngo, D.; Vathipadiekal, V.; Chui, D.H.K.; Al-Ali, A.K.; Steinberg, M.H.

2015-01-01

Background Fetal hemoglobin (HbF) levels in sickle cell anemia patients vary. We genotyped polymorphisms in the erythroid-specific enhancer of BCL11A to see if they might account for the very high HbF associated with the Arab-Indian (AI) haplotype and Benin haplotype of sickle cell anemia. Methods and Results Six BCL112A enhancer SNPs and their haplotypes were studied in Saudi Arabs from the Eastern Province and Indian patients with AI haplotype (HbF ~20%), African Americans (HbF ~7%), and Saudi Arabs from the Southwestern Province (HbF ~12%). Four SNPs (rs1427407, rs6706648, rs6738440, and rs7606173) and their haplotypes were consistently associated with HbF levels. The distributions of haplotypes differ in the 3 cohorts but not their genetic effects: the haplotype TCAG was associated with the lowest HbF level and the haplotype GTAC was associated with the highest HbF level and differences in HbF levels between carriers of these haplotypes in all cohorts was approximately 6%. Conclusions Common HbF BCL11A enhancer haplotypes in patients with African origin and AI sickle cell anemia have similar effects on HbF but they do not explain their differences in HbF. PMID:25703683

Marx and the Kabbalah: Aaron Shemuel Lieberman's Materialist Interpretation of Jewish History.

PubMed

Stern, Eliyahu

2018-01-01

This essay addresses the reception of Karl Marx's writings among Russian Jewish revolutionaries in the 1870s. It explores the way Aaron Shemuel Lieberman (1843-1880), known as "the father of Jewish socialism," interpreted Marx through a kabbalistic prism. It argues that Jews were attracted to Marx in part because of the overlaps between historical materialism and certain strands of the kabbalistic tradition. It also sheds light on the early reception of Marx and the way his theory of revolution was reinterpreted to reflect the unique socio-economic conditions of the Russian Empire.

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

PubMed

Amouri, Ahlem; Talmoudi, Faten; Messaoud, Olfa; d'Enghien, Catherine D; Rekaya, Mariem B; Allegui, Ines; Azaiez, Héla; Kefi, Rym; Abdelhak, Ahlem; Meseddi, Sondes H; Torjemane, Lamia; Ouederni, Monia; Mellouli, Fethi; Abid, Héla B; Aissaoui, Lamia; Bejaoui, Mohamed; Othmen, Tarek B; Lyonnet, Dominique S; Soulier, Jean; Hachicha, Mongia; Dellagi, Koussay; Abdelhak, Sonia; Fanconi, Tunisian

2014-03-01

Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated mutation in order to develop a simple tool for FA diagnosis. Seventy-four unrelated families with a total of 95 FA patients were investigated. All available family members were genotyped with four microsatellite markers flanking FANCA gene. Haplotype analysis and homozygosity mapping assigned 83 patients belonging to 62 families to the FA-A group. A common haplotype was shared by 42 patients from 26 families at a homozygous state while five patients from five families were heterozygous. Among them, 85% were from southern Tunisia suggesting a founder effect. Using multiplex ligation-dependent probe amplification (MLPA) technique, we have also demonstrated that this haplotype is associated with a total deletion of exon 15 in FANCA gene. Identification of a founder mutation allowed genetic counseling in relatives of these families, better bone marrow graft donor selection and prenatal diagnosis. This mutation should be investigated in priority for patients originating from North Africa and Middle East.

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

PubMed Central

Amouri, Ahlem; Talmoudi, Faten; Messaoud, Olfa; d'Enghien, Catherine D; Rekaya, Mariem B; Allegui, Ines; Azaiez, Héla; Kefi, Rym; Abdelhak, Ahlem; Meseddi, Sondes H; Torjemane, Lamia; Ouederni, Monia; Mellouli, Fethi; Abid, Héla B; Aissaoui, Lamia; Bejaoui, Mohamed; Othmen, Tarek B; Lyonnet, Dominique S; Soulier, Jean; Hachicha, Mongia; Dellagi, Koussay; Abdelhak, Sonia; Fanconi, Tunisian

2014-01-01

Tunisian population is characterized by its heterogeneous ethnic background and high rate of consanguinity. In consequence, there is an increase in the frequency of recessive genetic disorders including Fanconi anemia (FA). The aim of this study was to confirm the existence of a founder haplotype among FA Tunisian patients and to identify the associated mutation in order to develop a simple tool for FA diagnosis. Seventy-four unrelated families with a total of 95 FA patients were investigated. All available family members were genotyped with four microsatellite markers flanking FANCA gene. Haplotype analysis and homozygosity mapping assigned 83 patients belonging to 62 families to the FA-A group. A common haplotype was shared by 42 patients from 26 families at a homozygous state while five patients from five families were heterozygous. Among them, 85% were from southern Tunisia suggesting a founder effect. Using multiplex ligation-dependent probe amplification (MLPA) technique, we have also demonstrated that this haplotype is associated with a total deletion of exon 15 in FANCA gene. Identification of a founder mutation allowed genetic counseling in relatives of these families, better bone marrow graft donor selection and prenatal diagnosis. This mutation should be investigated in priority for patients originating from North Africa and Middle East. PMID:24689079

Change in health behaviours following acute coronary syndrome: Arab-Jewish differences.

PubMed

Reges, Orna; Vilchinsky, Noa; Leibowitz, Morton; Khaskia, Abdulrahem; Mosseri, Morris; Kark, Jeremy D

2015-04-01

Health-promoting behaviours after acute coronary syndrome (ACS) are effective in preventing recurrence. Ethnicity impacts on such behaviours. We assessed the independent association of Arab vs. Jewish ethnicity with persistence of smoking and physical inactivity 6 months after ACS in central Israel. Prospective cohort study. During their admission for ACS and subsequently 6 months later, 420 patients were interviewed about their smoking and exercise habits. The association of ethnicity with health-promoting behaviours was assessed by logistic regression adjusting for socio-demographic and clinical covariates. Smoking prevalence and physical inactivity were substantially higher among Arab patients than Jewish patients at admission (gender-adjusted prevalence rate ratio (RR) 2.25, 95% CI 1.80-2.81, p < 0.01 and RR 1.46, 95% CI 1.28-1.67, p < 0.001, respectively). The relative differences increased at 6 months (RR 2.94, 95% CI 2.13-4.07, p < 0.001 and RR 3.00, 95% CI 2.24-4.04, p < 0.001, respectively). Excess persistent smoking at 6 months among Arab vs. Jewish patients who were smokers at admission (adjusted OR 2.05, 95% CI 1.00-4.20, p = 0.049) was largely mediated through the 3.5-fold higher participation of Jewish patients in cardiac prevention and rehabilitation program (CPRP) (OR adjusted also for CPRP 1.31, 95% CI 0.59-2.93, p = 0.51). Greater persistent sedentary behaviour at 6 months among nonexercisers at admission among Arab patients (adjusted OR 3.68, 95% CI 1.93-7.02, p < 0.001) was partly mediated through attendance of CPRP (OR adjusted also for CPRP 2.38, 95% CI 1.19-4.76, p = 0.014). Culturally sensitive programmes need to be developed to enhance CPRP participation and favourable health-promoting changes among Arab patients. A comprehensive understanding of the determinants of the Arab-Jewish differences in efficacious health-promoting behaviours is crucial to inform appropriate ethnic-specific health

A Genome-Wide Search for Greek and Jewish Admixture in the Kashmiri Population

PubMed Central

Tashi, Tsewang; Lorenzo, Felipe Ramos; Feusier, Julie Ellen; Mir, Hyder

2016-01-01

The Kashmiri population is an ethno-linguistic group that resides in the Kashmir Valley in northern India. A longstanding hypothesis is that this population derives ancestry from Jewish and/or Greek sources. There is historical and archaeological evidence of ancient Greek presence in India and Kashmir. Further, some historical accounts suggest ancient Hebrew ancestry as well. To date, it has not been determined whether signatures of Greek or Jewish admixture can be detected in the Kashmiri population. Using genome-wide genotyping and admixture detection methods, we determined there are no significant or substantial signs of Greek or Jewish admixture in modern-day Kashmiris. The ancestry of Kashmiri Tibetans was also determined, which showed signs of admixture with populations from northern India and west Eurasia. These results contribute to our understanding of the existing population structure in northern India and its surrounding geographical areas. PMID:27490348

Modeling haplotype block variation using Markov chains.

PubMed

Greenspan, G; Geiger, D

2006-04-01

Models of background variation in genomic regions form the basis of linkage disequilibrium mapping methods. In this work we analyze a background model that groups SNPs into haplotype blocks and represents the dependencies between blocks by a Markov chain. We develop an error measure to compare the performance of this model against the common model that assumes that blocks are independent. By examining data from the International Haplotype Mapping project, we show how the Markov model over haplotype blocks is most accurate when representing blocks in strong linkage disequilibrium. This contrasts with the independent model, which is rendered less accurate by linkage disequilibrium. We provide a theoretical explanation for this surprising property of the Markov model and relate its behavior to allele diversity.

Modeling Haplotype Block Variation Using Markov Chains

PubMed Central

Greenspan, G.; Geiger, D.

2006-01-01

Models of background variation in genomic regions form the basis of linkage disequilibrium mapping methods. In this work we analyze a background model that groups SNPs into haplotype blocks and represents the dependencies between blocks by a Markov chain. We develop an error measure to compare the performance of this model against the common model that assumes that blocks are independent. By examining data from the International Haplotype Mapping project, we show how the Markov model over haplotype blocks is most accurate when representing blocks in strong linkage disequilibrium. This contrasts with the independent model, which is rendered less accurate by linkage disequilibrium. We provide a theoretical explanation for this surprising property of the Markov model and relate its behavior to allele diversity. PMID:16361244

Identification of a founder mutation for maple syrup urine disease in Hutterites.

PubMed

Mroch, Amelia; Davis-Keppen, Laura; Matthes, Cindy; Stein, Quinn

2014-04-01

Maple syrup urine disease (MSUD) is an organic acidemia detected on newborn screening. The condition has been reported with increased frequency in certain founder populations including Hutterites. We present a case of MSUD in a Hutterite boy. Mutation analysis was completed and identified a candidate founder mutation in the BCKDHB gene, specifically c.595_596delAG. Further testing of other Hutterites with MSUD is needed to determine whether additional mutations may exist.

The Learning of Arabic by Israeli Jewish Children.

ERIC Educational Resources Information Center

Abu-Rabia, Salim

1998-01-01

Examines the learning of Arabic by Israeli Jewish children. Finds that children displayed negative attitudes toward learning Arabic, but had positive attitudes toward the classroom situation. Also finds that classroom situation was the best predictor of learning success. Suggests that children are influenced more by classroom environment than by…

Evidence of triple mutant Pfdhps ISGNGA haplotype in Plasmodium falciparum isolates from North-east India: An analysis of sulfadoxine resistant haplotype selection.

PubMed

Das, Manuj K; Chetry, Sumi; Kalita, Mohan C; Dutta, Prafulla

2016-12-01

North-east region of India has consistent role in the spread of multi drug resistant Plasmodium (P.) falciparum to other parts of Southeast Asia. After rapid clinical treatment failure of Artemisinin based combination therapy-Sulphadoxine/Pyrimethamine (ACT-SP) chemoprophylaxis, Artemether-Lumefantrine (ACT-AL) combination therapy was introduced in the year 2012 in this region for the treatment of uncomplicated P. falciparum malaria. In a DNA sequencing based polymorphism analysis, seven codons of P. falciparum dihydropteroate synthetase ( Pf dhps) gene were screened in a total of 127 P. falciparum isolates collected from Assam, Arunachal Pradesh and Tripura of North-east India during the year 2014 and 2015 to document current sulfadoxine resistant haplotypes. Sequences were analyzed to rearrange both nucleotide and protein haplotypes. Molecular diversity indices were analyzed in DNA Sequence Polymorphism software (DnaSP) on the basis of Pf dhps gene sequences. Disappearance from selective neutrality was assessed based on the ratio of non-synonomous to synonomous nucleotide substitutions [dN/dS ratio]. Moreover, two-tailed Z test was performed in search of the significance for probability of rejecting null hypothesis of strict neutrality [dN = dS]. Presence of mutant P. falciparum multidrug resistance protein1 ( Pf mdr1) was also checked in those isolates that were present with new Pf dhps haplotypes. Phylogenetic relationship based on Pf dhps gene was reconstructed in Molecular Evolutionary Genetics Analysis (MEGA). Among eight different sulfadoxine resistant haplotypes found, IS GNG A haplotype was documented in a total of five isolates from Tripura with association of a new mutant M538 R allele. Sequence analysis of Pf mdr1 gene in these five isolates came to notice that not all but only one isolate was mutant at codon 86 (N86 Y ; Y YSND) in the multidrug resistance protein. Molecular diversity based on Pf dhps haplotypes revealed that P. falciparum

X-Linked Glomerulopathy Due to COL4A5 Founder Variant.

PubMed

Barua, Moumita; John, Rohan; Stella, Lorenzo; Li, Weili; Roslin, Nicole M; Sharif, Bedra; Hack, Saidah; Lajoie-Starkell, Ginette; Schwaderer, Andrew L; Becknell, Brian; Wuttke, Matthias; Köttgen, Anna; Cattran, Daniel; Paterson, Andrew D; Pei, York

2018-03-01

Alport syndrome is a rare hereditary disorder caused by rare variants in 1 of 3 genes encoding for type IV collagen. Rare variants in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome, which accounts for ∼80% of the cases. Alport syndrome has a variable clinical presentation, including progressive kidney failure, hearing loss, and ocular defects. Exome sequencing performed in 2 affected related males with an undefined X-linked glomerulopathy characterized by global and segmental glomerulosclerosis, mesangial hypercellularity, and vague basement membrane immune complex deposition revealed a COL4A5 sequence variant, a substitution of a thymine by a guanine at nucleotide 665 (c.T665G; rs281874761) of the coding DNA predicted to lead to a cysteine to phenylalanine substitution at amino acid 222, which was not seen in databases cataloguing natural human genetic variation, including dbSNP138, 1000 Genomes Project release version 01-11-2004, Exome Sequencing Project 21-06-2014, or ExAC 01-11-2014. Review of the literature identified 2 additional families with the same COL4A5 variant leading to similar atypical histopathologic features, suggesting a unique pathologic mechanism initiated by this specific rare variant. Homology modeling suggests that the substitution alters the structural and dynamic properties of the type IV collagen trimer. Genetic analysis comparing members of the 3 families indicated a distant relationship with a shared haplotype, implying a founder effect. Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

Sexuality in advanced age in Jewish thought and law.

PubMed

David, Benjamin E; Weitzman, Gideon A

2015-01-01

Judaism has a positive attitude to sexual relations within a marriage, and views such sexual relations as important not only for procreation but also as part of the framework of marriage. This is true for any age group, and sexuality is seen as an essential element of marriage for couples of advanced age. In this article, the authors present the views of Jewish law and thought regarding sexuality among older couples. The authors illustrate this using 3 case studies of couples who sought guidance in the area of sexuality. In addition, this area of counseling benefits greatly from an ongoing relationship and dialogue between expert rabbis in the field and therapists treating older Orthodox Jewish patients for sexual dysfunction. The triad relationship of couple, therapist, and rabbi enhances the ability to treat and assist such couples to seek treatment and overcome their difficulties.

Founders' Sensemaking and Sensegiving Behaviors Effect on the Organizational Identities of New Charter Schools

ERIC Educational Resources Information Center

Fehsenfeld, Corie

2010-01-01

This qualitative, multiple case study looked at the emerging organizational identity of four charter schools during the early years of development and the influence of the founder on that developing identity. The study looked at the ways in which each founder's sensemaking and sensegiving behaviors may have influenced the organizational identity…

Mineralocorticoid receptor haplotype, oral contraceptives and emotional information processing.

PubMed

Hamstra, D A; de Kloet, E R; van Hemert, A M; de Rijk, R H; Van der Does, A J W

2015-02-12

Oral contraceptives (OCs) affect mood in some women and may have more subtle effects on emotional information processing in many more users. Female carriers of mineralocorticoid receptor (MR) haplotype 2 have been shown to be more optimistic and less vulnerable to depression. To investigate the effects of oral contraceptives on emotional information processing and a possible moderating effect of MR haplotype. Cross-sectional study in 85 healthy premenopausal women of West-European descent. We found significant main effects of oral contraceptives on facial expression recognition, emotional memory and decision-making. Furthermore, carriers of MR haplotype 1 or 3 were sensitive to the impact of OCs on the recognition of sad and fearful faces and on emotional memory, whereas MR haplotype 2 carriers were not. Different compounds of OCs were included. No hormonal measures were taken. Most naturally cycling participants were assessed in the luteal phase of their menstrual cycle. Carriers of MR haplotype 2 may be less sensitive to depressogenic side-effects of OCs. Copyright © 2015 IBRO. Published by Elsevier Ltd. All rights reserved.

PedHunter 2.0 and its usage to characterize the founder structure of the Old Order Amish of Lancaster County

PubMed Central

2010-01-01

Background Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter, a suite of query software that can solve pedigree-related problems automatically and systematically. Methods We report on how we have used new features in PedHunter to quantify the number and expected genetic contribution of founders to the OOA. The queries and utility of PedHunter programs are illustrated by examples using AGDB in this paper. For example, we calculated the number of founders expected to be contributing genetic material to the present-day living OOA and estimated the mean relative founder representation for each founder. New features in PedHunter also include pedigree trimming and pedigree renumbering, which should prove useful for studying large pedigrees. Results With PedHunter version 2.0 querying AGDB version 4.0, we identified 34,160 presumed living OOA individuals and connected them into a 14-generation pedigree descending from 554 founders (332 females and 222 males) after trimming. From the analysis of cumulative mean relative founder representation, 128 founders (78 females and 50 males) accounted for over 95% of the mean relative founder contribution among living OOA descendants. Discussion/Conclusions The OOA are a closed founder population in which a modest number of founders account for the genetic variation present in the current OOA population. Improvements to the PedHunter software will be useful in future studies of both the OOA and other populations with large and computerized genealogies. PMID:20433770

Attitudes towards Bilingual Arab-Hebrew Education in Israel: A Comparative Study of Jewish and Arab Adults

ERIC Educational Resources Information Center

Azaiza, Faisal; Hertz-Lazarowitz, Rachel; Shoham, Meyrav; Amara, Muhammad; Mor-Sommerfeld, Aura; 'Ali, Nohad

2011-01-01

This study examines attitudes towards bilingual Jewish-Arab education among Jewish and Arab adults in Israel. The sample consisted of 1014 respondents who participated in a national phone survey in late 2006. Results indicate that Arabs are significantly more supportive of bilingual education in Israel than Jews. Positive attitudes regarding the…

Ultraaccurate genome sequencing and haplotyping of single human cells.

PubMed

Chu, Wai Keung; Edge, Peter; Lee, Ho Suk; Bansal, Vikas; Bafna, Vineet; Huang, Xiaohua; Zhang, Kun

2017-11-21

Accurate detection of variants and long-range haplotypes in genomes of single human cells remains very challenging. Common approaches require extensive in vitro amplification of genomes of individual cells using DNA polymerases and high-throughput short-read DNA sequencing. These approaches have two notable drawbacks. First, polymerase replication errors could generate tens of thousands of false-positive calls per genome. Second, relatively short sequence reads contain little to no haplotype information. Here we report a method, which is dubbed SISSOR (single-stranded sequencing using microfluidic reactors), for accurate single-cell genome sequencing and haplotyping. A microfluidic processor is used to separate the Watson and Crick strands of the double-stranded chromosomal DNA in a single cell and to randomly partition megabase-size DNA strands into multiple nanoliter compartments for amplification and construction of barcoded libraries for sequencing. The separation and partitioning of large single-stranded DNA fragments of the homologous chromosome pairs allows for the independent sequencing of each of the complementary and homologous strands. This enables the assembly of long haplotypes and reduction of sequence errors by using the redundant sequence information and haplotype-based error removal. We demonstrated the ability to sequence single-cell genomes with error rates as low as 10 -8 and average 500-kb-long DNA fragments that can be assembled into haplotype contigs with N50 greater than 7 Mb. The performance could be further improved with more uniform amplification and more accurate sequence alignment. The ability to obtain accurate genome sequences and haplotype information from single cells will enable applications of genome sequencing for diverse clinical needs. Copyright © 2017 the Author(s). Published by PNAS.

Introducing a brief measure of cultural and religious identification in American Jewish identity.

PubMed

Friedlander, Myrna L; Friedman, Michelle L; Miller, Matthew J; Ellis, Michael V; Friedlander, Lee K; Mikhaylov, Vadim G

2010-07-01

The authors conducted 3 studies to develop and investigate the psychometric properties of the American Jewish Identity Scales (AJIS), a brief self-report measure that assesses cultural identification and religious identification. Study 1 assessed the content validity of the item pool using an expert panel. In Study 2, 1,884 Jewish adults completed the initial AJIS and various measures of ethnic identity, collective self-esteem, and religiosity. Using confirmatory factor analyses, the authors selected and cross-validated 33 items that loaded highly and differentially on the 2 theorized latent factors. Study 3 assessed the AJIS's short-term stability and its relation to social desirability. Tests of reliability and construct validity provided initial psychometric support for the measure and confirmed the theorized primary salience of cultural identification. Participants reported significantly more private than public collective self-esteem, and the most Jewish-identified participants reported greater private self-esteem, acculturative stress, and perceived discrimination than did their more assimilated counterparts. (c) 2010 APA, all rights reserved.

Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families

PubMed Central

Palta, Priit; Kaplinski, Lauris; Nagirnaja, Liina; Veidenberg, Andres; Möls, Märt; Nelis, Mari; Esko, Tõnu; Metspalu, Andres; Laan, Maris; Remm, Maido

2015-01-01

DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highlighting the relevance of addressing the variability of CNVs at a higher resolution. So far, it has not been possible to deterministically infer the allelic composition of different haplotypes present within the CNV regions. We have developed a novel computational method, called PiCNV, which enables to resolve the haplotype sequence composition within CNV regions in nuclear families based on SNP genotyping microarray data. The algorithm allows to i) phase normal and CNV-carrying haplotypes in the copy number variable regions, ii) resolve the allelic copies of rearranged DNA sequence within the haplotypes and iii) infer the heritability of identified haplotypes in trios or larger nuclear families. To our knowledge this is the first program available that can deterministically phase null, mono-, di-, tri- and tetraploid genotypes in CNV loci. We applied our method to study the composition and inheritance of haplotypes in CNV regions of 30 HapMap Yoruban trios and 34 Estonian families. For 93.6% of the CNV loci, PiCNV enabled to unambiguously phase normal and CNV-carrying haplotypes and follow their transmission in the corresponding families. Furthermore, allelic composition analysis identified the co-occurrence of alternative allelic copies within 66.7% of haplotypes carrying copy number gains. We also observed less frequent transmission of CNV-carrying haplotypes from parents to children compared to normal haplotypes and identified an emergence of several de novo deletions and duplications in the offspring. PMID:25853576

Haplotype phasing and inheritance of copy number variants in nuclear families.

PubMed

Palta, Priit; Kaplinski, Lauris; Nagirnaja, Liina; Veidenberg, Andres; Möls, Märt; Nelis, Mari; Esko, Tõnu; Metspalu, Andres; Laan, Maris; Remm, Maido

2015-01-01

DNA copy number variants (CNVs) that alter the copy number of a particular DNA segment in the genome play an important role in human phenotypic variability and disease susceptibility. A number of CNVs overlapping with genes have been shown to confer risk to a variety of human diseases thus highlighting the relevance of addressing the variability of CNVs at a higher resolution. So far, it has not been possible to deterministically infer the allelic composition of different haplotypes present within the CNV regions. We have developed a novel computational method, called PiCNV, which enables to resolve the haplotype sequence composition within CNV regions in nuclear families based on SNP genotyping microarray data. The algorithm allows to i) phase normal and CNV-carrying haplotypes in the copy number variable regions, ii) resolve the allelic copies of rearranged DNA sequence within the haplotypes and iii) infer the heritability of identified haplotypes in trios or larger nuclear families. To our knowledge this is the first program available that can deterministically phase null, mono-, di-, tri- and tetraploid genotypes in CNV loci. We applied our method to study the composition and inheritance of haplotypes in CNV regions of 30 HapMap Yoruban trios and 34 Estonian families. For 93.6% of the CNV loci, PiCNV enabled to unambiguously phase normal and CNV-carrying haplotypes and follow their transmission in the corresponding families. Furthermore, allelic composition analysis identified the co-occurrence of alternative allelic copies within 66.7% of haplotypes carrying copy number gains. We also observed less frequent transmission of CNV-carrying haplotypes from parents to children compared to normal haplotypes and identified an emergence of several de novo deletions and duplications in the offspring.

Mineralocorticoid receptor haplotype, estradiol, progesterone and emotional information processing.

PubMed

Hamstra, Danielle A; de Kloet, E Ronald; Quataert, Ina; Jansen, Myrthe; Van der Does, Willem

2017-02-01

Carriers of MR-haplotype 1 and 3 (GA/CG; rs5522 and rs2070951) are more sensitive to the influence of oral contraceptives (OC) and menstrual cycle phase on emotional information processing than MR-haplotype 2 (CA) carriers. We investigated whether this effect is associated with estradiol (E2) and/or progesterone (P4) levels. Healthy MR-genotyped premenopausal women were tested twice in a counterbalanced design. Naturally cycling (NC) women were tested in the early-follicular and mid-luteal phase and OC-users during OC-intake and in the pill-free week. At both sessions E2 and P4 were assessed in saliva. Tests included implicit and explicit positive and negative affect, attentional blink accuracy, emotional memory, emotion recognition, and risky decision-making (gambling). MR-haplotype 2 homozygotes had higher implicit happiness scores than MR-haplotype 2 heterozygotes (p=0.031) and MR-haplotype 1/3 carriers (p<0.001). MR-haplotype 2 homozygotes also had longer reaction times to happy faces in an emotion recognition test than MR-haplotype 1/3 (p=0.001). Practice effects were observed for most measures. The pattern of correlations between information processing and P4 or E2 differed between sessions, as well as the moderating effects of the MR genotype. In the first session the MR-genotype moderated the influence of P4 on implicit anxiety (sr=-0.30; p=0.005): higher P4 was associated with reduction in implicit anxiety, but only in MR-haplotype 2 homozygotes (sr=-0.61; p=0.012). In the second session the MR-genotype moderated the influence of E2 on the recognition of facial expressions of happiness (sr=-0.21; p=0.035): only in MR-haplotype 1/3 higher E2 was correlated with happiness recognition (sr=0.29; p=0.005). In the second session higher E2 and P4 were negatively correlated with accuracy in lag2 trials of the attentional blink task (p<0.001). Thus NC women, compared to OC-users, performed worse on lag 2 trials (p=0.041). The higher implicit happiness scores of MR-haplotype

76 FR 25517 - Jewish American Heritage Month, 2011

Federal Register 2010, 2011, 2012, 2013, 2014

2011-05-05

... our Nation's founding, America's shores have been a safe harbor for people seeking shelter, hope, and... service in our Nation's military. Jewish Americans have defended our country since the days of the... in our Armed Forces. Nearly 70 years ago, during World War II, the U.S.A.T. Dorchester suffered an...

A phased SNP-based classification of sickle cell anemia HBB haplotypes.

PubMed

Shaikho, Elmutaz M; Farrell, John J; Alsultan, Abdulrahman; Qutub, Hatem; Al-Ali, Amein K; Figueiredo, Maria Stella; Chui, David H K; Farrer, Lindsay A; Murphy, George J; Mostoslavsky, Gustavo; Sebastiani, Paola; Steinberg, Martin H

2017-08-11

Sickle cell anemia causes severe complications and premature death. Five common β-globin gene cluster haplotypes are each associated with characteristic fetal hemoglobin (HbF) levels. As HbF is the major modulator of disease severity, classifying patients according to haplotype is useful. The first method of haplotype classification used restriction fragment length polymorphisms (RFLPs) to detect single nucleotide polymorphisms (SNPs) in the β-globin gene cluster. This is labor intensive, and error prone. We used genome-wide SNP data imputed to the 1000 Genomes reference panel to obtain phased data distinguishing parental alleles. We successfully haplotyped 813 sickle cell anemia patients previously classified by RFLPs with a concordance >98%. Four SNPs (rs3834466, rs28440105, rs10128556, and rs968857) marking four different restriction enzyme sites unequivocally defined most haplotypes. We were able to assign a haplotype to 86% of samples that were either partially or misclassified using RFLPs. Phased data using only four SNPs allowed unequivocal assignment of a haplotype that was not always possible using a larger number of RFLPs. Given the availability of genome-wide SNP data, our method is rapid and does not require high computational resources.

Age, gender and risk factor disparities in first-stroke Jewish and Arab patients in Israel undergoing rehabilitation.

PubMed

Greenberg, Elina; Treger, Iuly; Schwarz, Juliana

2011-11-01

Little is known of the risk factor disparities in first stroke among Jewish and Arab patients undergoing rehabilitation in Israel. To investigate the age, gender and risk factor disparities in first stroke among Jewish (immigrant and non-immigrant) and Arab patients undergoing rehabilitation and to compare the prevalence and odds ratio of stroke risk factors in these patients. The database of the Department of Neurological Rehabilitation C at Loewenstein Rehabilitation Center was used to investigate first ischemic and hemorrhagic stroke patients admitted for hospital rehabilitation over a 15 year period, January 1993 to December 2008. Particular attention was paid to age, gender and risk factor disparities. The 2000 patients with first stroke who were included in the study were grouped as Jewish (immigrant and non-immigrant) orArab; there were 237 Arabs, 370 non-immigrant Jews and 1393 immigrant Jews. A high percentage of Arab patients were found to have hypertension and diabetes mellitus, while a high percentage of Jewish immigrants had stenosis of the internal carotid artery. The study demonstrated some differences in the effect of risk factors between the groups. It may be important to address such differences when developing stroke preventative strategies in this population of Jewish and Arab stroke survivors in Israel.

Genomic evolution in domestic cattle: ancestral haplotypes and healthy beef.

PubMed

Williamson, Joseph F; Steele, Edward J; Lester, Susan; Kalai, Oscar; Millman, John A; Wolrige, Lindsay; Bayard, Dominic; McLure, Craig; Dawkins, Roger L

2011-05-01

We have identified numerous Ancestral Haplotypes encoding a 14-Mb region of Bota C19. Three are frequent in Simmental, Angus and Wagyu and have been conserved since common progenitor populations. Others are more relevant to the differences between these 3 breeds including fat content and distribution in muscle. SREBF1 and Growth Hormone, which have been implicated in the production of healthy beef, are included within these haplotypes. However, we conclude that alleles at these 2 loci are less important than other sequences within the haplotypes. Identification of breeds and hybrids is improved by using haplotypes rather than individual alleles. Copyright © 2010 Elsevier Inc. All rights reserved.

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.

PubMed

Khateb, Samer; Kowalewski, Björn; Bedoni, Nicola; Damme, Markus; Pollack, Netta; Saada, Ann; Obolensky, Alexey; Ben-Yosef, Tamar; Gross, Menachem; Dierks, Thomas; Banin, Eyal; Rivolta, Carlo; Sharon, Dror

2018-01-04

PurposeWe aimed to identify the cause of disease in patients suffering from a distinctive, atypical form of Usher syndrome.MethodsWhole-exome and genome sequencing were performed in five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and sensorineural hearing loss. Functional analysis of the wild-type and mutant proteins was performed in human fibrosarcoma cells.ResultsWe identified a homozygous founder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG). All patients shared a distinctive retinal phenotype with ring-shaped atrophy along the arcades engirdling the fovea, resulting in ring scotoma. In addition, patients developed moderate to severe sensorineural hearing loss. Both vision and hearing loss appeared around the age of 40 years. The identified variant affected a fully conserved amino acid that is part of the catalytic site of the enzyme. Functional analysis of the wild-type and mutant proteins showed no basal activity of p.D45Y.ConclusionHomozygosity for ARSG-p.D45Y in humans leads to protein dysfunction, causing an atypical combination of late-onset Usher syndrome. Although there is no evidence for generalized clinical manifestations of lysosomal storage diseases in this set of patients, we cannot rule out the possibility that mild and late-onset symptoms may appear.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.227.

Domestic Violence in Arab Society: A Comparison of Arab and Jewish Women in Shelters in Israel.

PubMed

Ben-Porat, Anat; Levy, Drorit; Kattoura, Ola; Dekel, Rachel; Itzhaky, Haya

2017-09-01

The aim of the current study was to address a gap in the literature by determining prevalence, specific types of violence, and risk factors of intimate partner violence (IPV) among Israeli born Arab women compared with Israeli born Jewish women. The following measures were compared: demographic and socioeconomic measures; measures relating to the characteristics of the violence, that is, the three types of violence (physical, emotional, and verbally threatening), sense of danger, and history of violence in childhood; family support levels; and perpetrator characteristics. The sample consisted of 154 Israeli born Arab women and 149 Israeli born Jewish women who were staying in shelters for victims of domestic violence in Israel. A comparison of the two groups revealed that the Arab women were exposed to more physical violence and received less family support than did their Jewish counterparts. The proportion of Arab perpetrators with access to weapons was higher than that of Jewish perpetrators, whereas the proportion of police complaints against Jewish perpetrators was higher than that against Arab perpetrators. Arab women were also younger, less educated, and less a part of the workforce than Jewish women. The contribution of the woman's age to the variance in levels of physical violence was negative and significant. In contrast, the contribution of her sense of danger, and various perpetrator characteristics, was positive. Moreover, the interaction between sense of danger × ethnicity contributed significantly to levels of violence. This study extends the existing knowledge about the contribution of ethnicity as one of many variables that play a role in the lives of women who are victims of domestic violence and highlights the need to develop, in particular, unique individual, community, and social interventions for Arab women in Israeli society.

TNF-alpha SNP haplotype frequencies in equidae.

PubMed

Brown, J J; Ollier, W E R; Thomson, W; Matthews, J B; Carter, S D; Binns, M; Pinchbeck, G; Clegg, P D

2006-05-01

Tumour necrosis factor alpha (TNF-alpha) is a pro-inflammatory cytokine that plays a crucial role in the regulation of inflammatory and immune responses. In all vertebrate species the genes encoding TNF-alpha are located within the major histocompatability complex. In the horse TNF-alpha has been ascribed a role in a variety of important disease processes. Previously two single nucleotide polymorphisms (SNPs) have been reported within the 5' un-translated region of the equine TNF-alpha gene. We have examined the equine TNF-alpha promoter region further for additional SNPs by analysing DNA from 131 horses (Equus caballus), 19 donkeys (E. asinus), 2 Grant's zebras (E. burchellii boehmi) and one onager (E. hemionus). Two further SNPs were identified at nucleotide positions 24 (T/G) and 452 (T/C) relative to the first nucleotide of the 522 bp polymerase chain reaction product. A sequence variant at position 51 was observed between equidae. SNaPSHOT genotyping assays for these and the two previously reported SNPs were performed on 457 horses comprising seven different breeds and 23 donkeys to determine the gene frequencies. SNP frequencies varied considerably between different horse breeds and also between the equine species. In total, nine different TNF-alpha promoter SNP haplotypes and their frequencies were established amongst the various equidae examined, with some haplotypes being found only in horses and others only in donkeys or zebras. The haplotype frequencies observed varied greatly between different horse breeds. Such haplotypes may relate to levels of TNF-alpha production and disease susceptibility and further investigation is required to identify associations between particular haplotypes and altered risk of disease.

Beta-globin gene cluster haplotypes of Amerindian populations from the Brazilian Amazon region.

PubMed

Guerreiro, J F; Figueiredo, M S; Zago, M A

1994-01-01

We have determined the beta-globin cluster haplotypes for 80 Indians from four Brazilian Amazon tribes: Kayapó, Wayampí, Wayana-Apalaí, and Arára. The results are analyzed together with 20 Yanomámi previously studied. From 2 to 4 different haplotypes were identified for each tribe, and 7 of the possible 32 haplotypes were found in a sample of 172 chromosomes for which the beta haplotypes were directly determined or derived from family studies. The haplotype distribution does not differ significantly among the five populations. The two most common haplotypes in all tribes were haplotypes 2 and 6, with average frequencies of 0.843 and 0.122, respectively. The genetic affinities between Brazilian Indians and other human populations were evaluated by estimates of genetic distance based on haplotype data. The lowest values were observed in relation to Asians, especially Chinese, Polynesians, and Micronesians.

A spatial haplotype copying model with applications to genotype imputation.

PubMed

Yang, Wen-Yun; Hormozdiari, Farhad; Eskin, Eleazar; Pasaniuc, Bogdan

2015-05-01

Ever since its introduction, the haplotype copy model has proven to be one of the most successful approaches for modeling genetic variation in human populations, with applications ranging from ancestry inference to genotype phasing and imputation. Motivated by coalescent theory, this approach assumes that any chromosome (haplotype) can be modeled as a mosaic of segments copied from a set of chromosomes sampled from the same population. At the core of the model is the assumption that any chromosome from the sample is equally likely to contribute a priori to the copying process. Motivated by recent works that model genetic variation in a geographic continuum, we propose a new spatial-aware haplotype copy model that jointly models geography and the haplotype copying process. We extend hidden Markov models of haplotype diversity such that at any given location, haplotypes that are closest in the genetic-geographic continuum map are a priori more likely to contribute to the copying process than distant ones. Through simulations starting from the 1000 Genomes data, we show that our model achieves superior accuracy in genotype imputation over the standard spatial-unaware haplotype copy model. In addition, we show the utility of our model in selecting a small personalized reference panel for imputation that leads to both improved accuracy as well as to a lower computational runtime than the standard approach. Finally, we show our proposed model can be used to localize individuals on the genetic-geographical map on the basis of their genotype data.

APC Yin-Yang haplotype associated with colorectal cancer risk

PubMed Central

GARRE, P.; DE LA HOYA, M.; INIESTA, P.; ROMERA, A.; LLOVET, P.; GONZALEZ, S.; PEREZ-SEGURA, P.; CAPELLA, G.; DIAZ-RUBIO, E.; CALDES, T.

2010-01-01

The Yin-Yang haplotype is defined as two mismatched haplotypes (Yin and Yang) representing the majority of the existing haplotypes in a particular genomic region. The human adenomatous polyposis coli (APC) gene shows a Yin-Yang haplotype pattern accounting for 84% of all of the haplotypes existing in the Spanish population. Several association studies have been published regarding APC gene variants (SNPs and haplotypes) and colorectal cancer (CRC) risk. However, no studies concerning diplotype structure and CRC risk have been conducted. The aim of the present study was to investigate whether the APC Yin-Yang homozygote diplotype is over-represented in patients with sporadic CRC when compared to its distribution in controls, and its association with CRC risk. TaqMan® assays were used to genotype three tagSNPs selected across the APC Yin-Yang region. Frequencies of the APC Yin-Yang tagSNP alleles, haplotype and diplotype of 378 CRC cases and 642 controls were compared. Two Spanish CRC group samples were included [Hospital Clínico San Carlos in Madrid (HCSC) and Instituto Catalán de Oncología in Barcelona (ICO)]. Analysis of 157 consecutive CRC patients and 405 control subjects from HCSC showed a significative effect for the risk of CRC (OR=1.93; 95% CI 1.32–2.81; P=0.001). However, this effect was not confirmed in 221 CRC patients and 237 control subjects from ICO (OR=0.89; 95% CI 0.61–1.28; P=0.521). We found a significant association between the APC homozygote Yin-Yang diplotype and the risk of colorectal cancer in the HCSC samples. However, we did not observe this association in the ICO samples. These observations suggest that a study with a larger Spanish cohort is necessary to confirm the effects of the APC Yin-Yang diplotype on the risk of CRC. PMID:22993613

APC Yin-Yang haplotype associated with colorectal cancer risk.

PubMed

Garre, P; DE LA Hoya, M; Iniesta, P; Romera, A; Llovet, P; Gonzalez, S; Perez-Segura, P; Capella, G; Diaz-Rubio, E; Caldes, T

2010-09-01

The Yin-Yang haplotype is defined as two mismatched haplotypes (Yin and Yang) representing the majority of the existing haplotypes in a particular genomic region. The human adenomatous polyposis coli (APC) gene shows a Yin-Yang haplotype pattern accounting for 84% of all of the haplotypes existing in the Spanish population. Several association studies have been published regarding APC gene variants (SNPs and haplotypes) and colorectal cancer (CRC) risk. However, no studies concerning diplotype structure and CRC risk have been conducted. The aim of the present study was to investigate whether the APC Yin-Yang homozygote diplotype is over-represented in patients with sporadic CRC when compared to its distribution in controls, and its association with CRC risk. TaqMan(®) assays were used to genotype three tagSNPs selected across the APC Yin-Yang region. Frequencies of the APC Yin-Yang tagSNP alleles, haplotype and diplotype of 378 CRC cases and 642 controls were compared. Two Spanish CRC group samples were included [Hospital Clínico San Carlos in Madrid (HCSC) and Instituto Catalán de Oncología in Barcelona (ICO)]. Analysis of 157 consecutive CRC patients and 405 control subjects from HCSC showed a significative effect for the risk of CRC (OR=1.93; 95% CI 1.32-2.81; P=0.001). However, this effect was not confirmed in 221 CRC patients and 237 control subjects from ICO (OR=0.89; 95% CI 0.61-1.28; P=0.521). We found a significant association between the APC homozygote Yin-Yang diplotype and the risk of colorectal cancer in the HCSC samples. However, we did not observe this association in the ICO samples. These observations suggest that a study with a larger Spanish cohort is necessary to confirm the effects of the APC Yin-Yang diplotype on the risk of CRC.

The use of narrative in Jewish medical ethics.

PubMed

Jotkowitz, Alan

2013-09-01

Anne Jones has pointed out that over the last three decades, stories have been important to medical ethics in at least three ways: (1). Stories as cases for teaching principle-based medical ethics (2). Narratives for moral guides on what is considered living a good life (3). Stories as testimonials written by both patients and physicians. A pioneer in this effort, particularly in regard to using narratives as moral guides, has been the ethicist and philosopher Stanley Hauerwas. Heavily influenced by virtue ethics, Hauerwas believes that it is a person's particular narrative tradition that provides one with convictions that form the basis of one's morality. Befitting a Protestant theologian, he is particularly concerned with the Christian narrative. From a Jewish perspective, there has been much less written on the use of narrative in medical ethics. However, it is a mistake to think that narrative has little, if any, role in Rabbinic ethical decision making. The purpose of this article is to demonstrate the centrality of narrative in the thought of Orthodox Jewish decisors and the problems inherent in this methodology.

Ethnicity moderates the effects of resources on adjustment of Jewish and Arab mothers of children diagnosed with cancer.

PubMed

Ben-Zur, Hasida; Khoury, Siwar Makhoul

2017-01-01

The study aimed to explore the adjustment of Jewish and Arab mothers of children diagnosed with cancer. Ninety-seven Jewish and 100 Arab mothers completed questionnaires assessing mastery, social support, and adjustment (psychological distress, quality of life, and future fears and hopes). Arab mothers were higher than Jewish mothers on distress and lower on social support and future hopes). Mastery and social support contributed independently to adjustment indices. Ethnicity moderated the effects of mastery and social support on adjustment. Ethnicity, mastery, and social support are important factors in mothers' adjustment to their child's cancer.

Mathematical properties and bounds on haplotyping populations by pure parsimony.

PubMed

Wang, I-Lin; Chang, Chia-Yuan

2011-06-01

Although the haplotype data can be used to analyze the function of DNA, due to the significant efforts required in collecting the haplotype data, usually the genotype data is collected and then the population haplotype inference (PHI) problem is solved to infer haplotype data from genotype data for a population. This paper investigates the PHI problem based on the pure parsimony criterion (HIPP), which seeks the minimum number of distinct haplotypes to infer a given genotype data. We analyze the mathematical structure and properties for the HIPP problem, propose techniques to reduce the given genotype data into an equivalent one of much smaller size, and analyze the relations of genotype data using a compatible graph. Based on the mathematical properties in the compatible graph, we propose a maximal clique heuristic to obtain an upper bound, and a new polynomial-sized integer linear programming formulation to obtain a lower bound for the HIPP problem. Copyright © 2011 Elsevier Inc. All rights reserved.

The Parent Perspective: Disabilities and Jewish Day Schools

ERIC Educational Resources Information Center

Uhrman, Abigail L.

2017-01-01

The following study describes the experiences of parents with a child with a disability in Jewish day schools. The findings suggest marked differences in the experiences of parents whose child was able to remain in the day school and those who left as a result of their child's disability. In the latter group, the themes of loneliness and…

Reinventing Religion: Jewish Religion Textbooks in Russian Gymnasia

ERIC Educational Resources Information Center

Adler, Eliyana R.

2011-01-01

This article examines 10 textbooks used in Jewish religion classes in Russian high schools in the final decades of the 19th century. The textbooks reveal an expectation of a low level of Hebrew background, an interest in promoting the practice of prayer, and two distinct approaches to teaching Judaism. While some of the books introduce students to…

A Movie Case Study of Anemic Jewish Education

ERIC Educational Resources Information Center

Resnick, David

2011-01-01

"Keeping Up with the Steins" (2006) is the first Hollywood film to focus on the Bar Mitzvah ceremony in its family, congregational, and Jewish community context. The film demonstrates how popular culture reflects community values, but may also shape them. The hero is alienated both from the synagogue service and his mega-Bar Mitzvah party. In line…

Cultural Transitioning of Jewish Immigrants: Education, Employment and Integration

ERIC Educational Resources Information Center

Sinacore, Ada; Mikhail, Anne-Marie; Kassan, Anusha; Lerner, Alexandra

2009-01-01

This paper discusses the cultural transitioning process that immigrants undergo in order to attain educational, occupational, and social integration within Canadian society. Results of this phenomenological study examining 31 Jewish immigrants from Argentina, Israel, France and the Former Soviet Union, reveal that lack of educational equivalency…

Origin and Diversification Dynamics of Self-Incompatibility Haplotypes

PubMed Central

Gervais, Camille E.; Castric, Vincent; Ressayre, Adrienne; Billiard, Sylvain

2011-01-01

Self-incompatibility (SI) is a genetic system found in some hermaphrodite plants. Recognition of pollen by pistils expressing cognate specificities at two linked genes leads to rejection of self pollen and pollen from close relatives, i.e., to avoidance of self-fertilization and inbred matings, and thus increased outcrossing. These genes generally have many alleles, yet the conditions allowing the evolution of new alleles remain mysterious. Evolutionary changes are clearly necessary in both genes, since any mutation affecting only one of them would result in a nonfunctional self-compatible haplotype. Here, we study diversification at the S-locus (i.e., a stable increase in the total number of SI haplotypes in the population, through the incorporation of new SI haplotypes), both deterministically (by investigating analytically the fate of mutations in an infinite population) and by simulations of finite populations. We show that the conditions allowing diversification are far less stringent in finite populations with recurrent mutations of the pollen and pistil genes, suggesting that diversification is possible in a panmictic population. We find that new SI haplotypes emerge fastest in populations with few SI haplotypes, and we discuss some implications for empirical data on S-alleles. However, allele numbers in our simulations never reach values as high as observed in plants whose SI systems have been studied, and we suggest extensions of our models that may reconcile the theory and data. PMID:21515570

Ancestral inference from haplotypes and mutations.

PubMed

Griffiths, Robert C; Tavaré, Simon

2018-04-25

We consider inference about the history of a sample of DNA sequences, conditional upon the haplotype counts and the number of segregating sites observed at the present time. After deriving some theoretical results in the coalescent setting, we implement rejection sampling and importance sampling schemes to perform the inference. The importance sampling scheme addresses an extension of the Ewens Sampling Formula for a configuration of haplotypes and the number of segregating sites in the sample. The implementations include both constant and variable population size models. The methods are illustrated by two human Y chromosome datasets. Copyright © 2018. Published by Elsevier Inc.

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.

PubMed

Horowitz, M; Pasmanik-Chor, M; Borochowitz, Z; Falik-Zaccai, T; Heldmann, K; Carmi, R; Parvari, R; Beit-Or, H; Goldman, B; Peleg, L; Levy-Lahad, E; Renbaum, P; Legum, S; Shomrat, R; Yeger, H; Benbenisti, D; Navon, R; Dror, V; Shohat, M; Magal, N; Navot, N; Eyal, N

1998-01-01

Gaucher disease is the most prevalent inherited disease among Ashkenazi Jews. It is very heterogeneous due to a large number of mutations within the glucocerebrosidase gene, whose impaired activity is the cause for this disease. Aiming at determining Gaucher carrier frequency among the Ashkenazi Jewish population in Israel, 1,208 individuals were molecularly diagnosed for six mutations known to occur among Ashkenazi Jewish Gaucher patients, using the newly developed Pronto Gaucher kit. The following mutations were tested: N370S, 84GG, IVS2+1, D409H, L444P, and V394L. Molecular testing of these mutations also allows identification of the recTL allele. The results indicated that Gaucher carrier frequency is 1:17 within the tested population. The prevalence of N370S carriers is 1:17.5. This implies that approximately 1:1225 Ashkenazi Jews will be homozygous for the N370S mutation. Actually, in our study of 1,208 individuals one was found to be homozygous for the N370S mutation. The actual number of known Ashkenazi Jewish Gaucher patients with this genotype is much lower than that expected according to the frequency of the N370S mutation, suggesting a low penetrance of this mutation. Results of loading experiments in cells homozygous for the N370S mutation, as well as cells homozygous for the L444P and the D409H mutations, exemplified this phenomenon.

PWHATSHAP: efficient haplotyping for future generation sequencing.

PubMed

Bracciali, Andrea; Aldinucci, Marco; Patterson, Murray; Marschall, Tobias; Pisanti, Nadia; Merelli, Ivan; Torquati, Massimo

2016-09-22

Haplotype phasing is an important problem in the analysis of genomics information. Given a set of DNA fragments of an individual, it consists of determining which one of the possible alleles (alternative forms of a gene) each fragment comes from. Haplotype information is relevant to gene regulation, epigenetics, genome-wide association studies, evolutionary and population studies, and the study of mutations. Haplotyping is currently addressed as an optimisation problem aiming at solutions that minimise, for instance, error correction costs, where costs are a measure of the confidence in the accuracy of the information acquired from DNA sequencing. Solutions have typically an exponential computational complexity. WHATSHAP is a recent optimal approach which moves computational complexity from DNA fragment length to fragment overlap, i.e., coverage, and is hence of particular interest when considering sequencing technology's current trends that are producing longer fragments. Given the potential relevance of efficient haplotyping in several analysis pipelines, we have designed and engineered PWHATSHAP, a parallel, high-performance version of WHATSHAP. PWHATSHAP is embedded in a toolkit developed in Python and supports genomics datasets in standard file formats. Building on WHATSHAP, PWHATSHAP exhibits the same complexity exploring a number of possible solutions which is exponential in the coverage of the dataset. The parallel implementation on multi-core architectures allows for a relevant reduction of the execution time for haplotyping, while the provided results enjoy the same high accuracy as that provided by WHATSHAP, which increases with coverage. Due to its structure and management of the large datasets, the parallelisation of WHATSHAP posed demanding technical challenges, which have been addressed exploiting a high-level parallel programming framework. The result, PWHATSHAP, is a freely available toolkit that improves the efficiency of the analysis of genomics

Reflections on palliative care from the jewish and islamic tradition.

PubMed

Schultz, Michael; Baddarni, Kassim; Bar-Sela, Gil

2012-01-01

Spiritual care is a vital part of holistic patient care. Awareness of common patient beliefs will facilitate discussions about spirituality. Such conversations are inherently good for the patient, deepen the caring staff-patient-family relationship, and enhance understanding of how beliefs influence care decisions. All healthcare providers are likely to encounter Muslim patients, yet many lack basic knowledge of the Muslim faith and of the applications of Islamic teachings to palliative care. Similarly, some of the concepts underlying positive Jewish approaches to palliative care are not well known. We outline Jewish and Islamic attitudes toward suffering, treatment, and the end of life. We discuss our religions' approaches to treatments deemed unnecessary by medical staff, and consider some of the cultural reasons that patients and family members might object to palliative care, concluding with specific suggestions for the medical team.

Reflections on Palliative Care from the Jewish and Islamic Tradition

PubMed Central

Schultz, Michael; Baddarni, Kassim; Bar-Sela, Gil

2012-01-01

Spiritual care is a vital part of holistic patient care. Awareness of common patient beliefs will facilitate discussions about spirituality. Such conversations are inherently good for the patient, deepen the caring staff-patient-family relationship, and enhance understanding of how beliefs influence care decisions. All healthcare providers are likely to encounter Muslim patients, yet many lack basic knowledge of the Muslim faith and of the applications of Islamic teachings to palliative care. Similarly, some of the concepts underlying positive Jewish approaches to palliative care are not well known. We outline Jewish and Islamic attitudes toward suffering, treatment, and the end of life. We discuss our religions' approaches to treatments deemed unnecessary by medical staff, and consider some of the cultural reasons that patients and family members might object to palliative care, concluding with specific suggestions for the medical team. PMID:22203878

Clinical and Phenotypic Differences in Inflammatory Bowel Disease Among Arab and Jewish Children in Israel.

PubMed

Rinawi, Firas; Assa, Amit; Bashir, Husam; Peleg, Sarit; Shamir, Raanan

2017-08-01

Data on inflammatory bowel disease (IBD) phenotypes among the Arab population in Israel or in the neighboring Arab countries is scarce. We aimed to assess differences in disease phenotype among Arab and Jewish children living in Israel. We performed a retrospective chart review of pediatric IBD cases, which were diagnosed at the Schneider Children's Medical Center and Ha'Emek Medical Center in Israel between 2000 and 2014. Demographic, clinical, and phenotypic variables were compared between Arabs and Jews from Eastern (Sephardic) and Western (Ashkenazi) origin. Seventy-one Arab children with IBD were compared with 165 Ashkenazi and 158 Sephardic Jewish children. Age and gender did not differ between groups. Sephardic and Ashkenazi Jewish Crohn's disease (CD) patients had significantly more stenotic behavior (24 and 26 vs. 5%, p = 0.03) and less fistulzing perianal disease (15 and 11 vs. 31%, p = 0.014) compared with Arab patients. Arab children with ulcerative colitis (UC) had more severe disease at diagnosis compared to Sephardic and Ashkenazi Jews reflected by higher Pediatric UC Activity Index (45 vs. 35 and 35, respectively, p = 0.03). Arab patients had significantly lower proportion of anti-Saccharomyces cerevisiae antibodies positivity (in CD) and perinuclear anti-neutrophil cytoplasmic antibodies positivity (in UC) than both Sephardic and Ashkenazi Jewish children (23 vs. 53 and 65%, p = 0.002 and 35 vs. 60 and 75%, respectively, p = 0.002). Arab and Jewish children with IBD differ in disease characteristics and severity. Whether genetic or environmental factors are the cause for these differences is yet to be determined.

Experiential learning and values education at a school youth camp: Maintaining Jewish culture and heritage

NASA Astrophysics Data System (ADS)

Gross, Zehavit; Rutland, Suzanne D.

2017-02-01

In our post-modern, globalised world, there is a risk of unique cultural heritages being lost. This loss contributes to the detriment of civilization, because individuals need to be rooted in their own specific identity in order to actively participate in community life. This article discusses a longitudinal case study of the efforts being made by Australian Jewish schools to maintain Jewish heritage through annual experiential religious education camps, coordinated in a programme called Counterpoint. The researchers' aim was to analyse how a school youth camp can serve as a site for socialisation and education into a cultural and religious heritage through experiential learning and informal education. During research trips which took place over several years, interviews enabling insights into the process of experiential education were conducted with a total of three different Directors of Informal Jewish Education, two Jewish Studies heads, five participating teachers, seven youth leaders, as well as seven student focus groups. In their analysis of the semi-structured interviews, the authors of this article employed a grounded theory approach using a constant comparative method, which enabled a more nuanced understanding of the main phenomenon investigated. Over the years, they were able to observe two philosophical approaches, one of which focused more on socialisation, with immersion into experience, while the other focused on education, with immersion into Jewish knowledge. Their findings reveal that some educators aim to "transmit" knowledge through "evocation", with the students involved in active learning; while others focus more on students' "acquisition" of knowledge through transmission. Experiential learning activities were found to be more meaningful and powerful if they combined both approaches, leading to growth.

A Culturally Appropriate School Wellness Initiative: Results of a 2-Year Pilot Intervention in 2 Jewish Schools

ERIC Educational Resources Information Center

Benjamins, Maureen R.; Whitman, Steven

2010-01-01

Background: Despite the growing number of school-based interventions designed to reduce childhood obesity or otherwise promote health, no models or materials were found for Jewish schools. The current study describes an effort within a Jewish school system in Chicago to create, implement, and evaluate a school-based intervention tailored to the…

Recent Advances in Experimental Whole Genome Haplotyping Methods

PubMed Central

Huang, Mengting; Lu, Zuhong

2017-01-01

Haplotype plays a vital role in diverse fields; however, the sequencing technologies cannot resolve haplotype directly. Pioneers demonstrated several approaches to resolve haplotype in the early years, which was extensively reviewed. Since then, numerous methods have been developed recently that have significantly improved phasing performance. Here, we review experimental methods that have emerged mainly over the past five years, and categorize them into five classes according to their maximum scale of contiguity: (i) encapsulation, (ii) 3D structure capture and construction, (iii) compartmentalization, (iv) fluorography, (v) long-read sequencing. Several subsections of certain methods are attached to each class as instances. We also discuss the relative advantages and disadvantages of different classes and make comparisons among representative methods of each class. PMID:28891974

Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards.

PubMed

Karlin, S; Kenett, R; Bonné-Tamir, B

1979-05-01

A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in exploiting historical, geographical and culturally relevant information. A number of partial orderings and distance relationships among the populations are determined. Our concern in this study is to analyze similarities and differences among the Jewish populations, in terms of the gene frequency distributions for a number of genetic markers. Typical questions discussed are as follows: These Jewish populations differ in certain morphological and anthropometric traits. Are there corresponding differences in biochemical genetic constitution? How can we assess the extent of heterogeneity between and within groupings? Which class of markers (blood typings or protein loci) discriminates better among the separate populations? The results are quite surprising. For example, we found the Ashkenazi, Sephardi and Iraqi Jewish populations to be consistently close in genetic constitution and distant from all the other populations, namely the Yemenite and Cochin Jews, the Arabs, and the non-Jewish German and Russian populations. We found the Polish Jewish community the most heterogeneous among all Jewish populations. The blood loci discriminate better than the protein loci. A number of possible interpretations and hypotheses for these and other results are offered. The method devised for this analysis should prove useful in studying similarities and differences for other groups of populations for which substantial biochemical polymorphic data are available.

Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards.

PubMed Central

Karlin, S; Kenett, R; Bonné-Tamir, B

1979-01-01

A nonparametric statistical methodology is used for the analysis of biochemical frequency data observed on a series of nine Jewish and six non-Jewish populations. Two categories of statistics are used: heterogeneity indices and various distance measures with respect to a standard. The latter are more discriminating in exploiting historical, geographical and culturally relevant information. A number of partial orderings and distance relationships among the populations are determined. Our concern in this study is to analyze similarities and differences among the Jewish populations, in terms of the gene frequency distributions for a number of genetic markers. Typical questions discussed are as follows: These Jewish populations differ in certain morphological and anthropometric traits. Are there corresponding differences in biochemical genetic constitution? How can we assess the extent of heterogeneity between and within groupings? Which class of markers (blood typings or protein loci) discriminates better among the separate populations? The results are quite surprising. For example, we found the Ashkenazi, Sephardi and Iraqi Jewish populations to be consistently close in genetic constitution and distant from all the other populations, namely the Yemenite and Cochin Jews, the Arabs, and the non-Jewish German and Russian populations. We found the Polish Jewish community the most heterogeneous among all Jewish populations. The blood loci discriminate better than the protein loci. A number of possible interpretations and hypotheses for these and other results are offered. The method devised for this analysis should prove useful in studying similarities and differences for other groups of populations for which substantial biochemical polymorphic data are available. PMID:380330

A Founder Mutation in LEPRE1 Carried by 1.5% of West Africans and 0.4% of African Americans Causes Lethal Recessive Osteogenesis Imperfecta

PubMed Central

Cabral, Wayne A.; Barnes, Aileen M.; Adeyemo, Adebowale; Cushing, Kelly; Chitayat, David; Porter, Forbes D.; Panny, Susan R.; Gulamali-Majid, Fizza; Tishkoff, Sarah A.; Rebbeck, Timothy R.; Gueye, Serigne M.; Bailey-Wilson, Joan E.; Brody, Lawrence C.; Rotimi, Charles N.; Marini, Joan C.

2012-01-01

Purpose Deficiency of prolyl 3-hydroxylase 1, encoded by LEPRE1, causes recessive osteogenesis imperfecta. We previously identified a LEPRE1 mutation, exclusively in African Americans and contemporary West Africans. We hypothesized that this allele originated in West Africa and was introduced to the Americas with the Atlantic slave trade. We aimed to determine the frequency of carriers for this mutation among African Americans and West Africans, and the mutation origin and age. Methods Genomic DNA was screened for the mutation using PCR and restriction digestion, and a custom TaqMan genomic SNP assay. The mutation age was estimated using microsatellites and short tandem repeats spanning 4.2 Mb surrounding LEPRE1 in probands and carriers. Results Approximately 0.4% of Mid-Atlantic African Americans carry this mutation, estimating recessive OI in 1/260,000 births in this population. In Nigeria and Ghana, 1.48% of unrelated individuals are heterozygous carriers, predicting 1/18,260 births will be affected with recessive OI, equal to the incidence of de novo dominant OI. The mutation was not detected in Africans from surrounding countries. All carriers shared a haplotype of 63-770 Kb, consistent with a single founder for this mutation. Using linkage disequilibrium analysis, the mutation was estimated to have originated between 650 and 900 years before present (1100-1350 C.E.). Conclusions We identified a West African founder mutation for recessive OI in LEPRE1. Nearly 1.5% of Ghanians and Nigerians are carriers. The age of this allele is consistent with introduction to North America via the Atlantic slave trade (1501 – 1867 C.E). PMID:22281939

Collective identity and intergroup prejudice among Jewish and Arab students in the United States.

PubMed

Ruttenberg, J; Zea, M C; Sigelman, C K

1996-04-01

Relationships between indicators of collective identity (collective self-esteem, religious involvement, and involvement in ethnic organizations) and prejudice toward the other-group were examined in a sample of Jewish and Arab students in the United States. Contrary to expectations, collective identity variables were largely unrelated to prejudice among the Jewish students, although the Jewish students who expressed the least amount of anti-Arab sentiment were those who were the most religious. As expected, the Arab students who (a) had low public collective self-esteem and (b) were highly involved in religious and ethnic organizations tended to be the most prejudiced. The findings for Arab students, in particular, contradict findings obtained in the laboratory, using the minimal intergroup paradigm, and suggest that individuals who are highly involved in in-group activities but believe their group is not viewed favorably by others may derogate the members of a salient out-group in an attempt to acquire a more positive social identity.

Founder effects, inbreeding, and loss of genetic diversity in four avian reintroduction programs.

PubMed

Jamieson, Ian G

2011-02-01

The number of individuals translocated and released as part of a reintroduction is often small, as is the final established population, because the reintroduction site is typically small. Small founder and small resulting populations can result in population bottlenecks, which are associated with increased rates of inbreeding and loss of genetic diversity, both of which can affect the long-term viability of reintroduced populations. I used information derived from pedigrees of four monogamous bird species reintroduced onto two different islands (220 and 259 ha) in New Zealand to compare the pattern of inbreeding and loss of genetic diversity among the reintroduced populations. Although reintroduced populations founded with few individuals had higher levels of inbreeding, as predicted, other factors, including biased sex ratio and skewed breeding success, contributed to high levels of inbreeding and loss of genetic diversity. Of the 10-58 individuals released, 4-25 genetic founders contributed at least one living descendent and yielded approximately 3-11 founder-genome equivalents (number of genetic founders assuming an equal contribution of offspring and no random loss of alleles across generations) after seven breeding seasons. This range is much lower than the 20 founder-genome equivalents recommended for captive-bred populations. Although the level of inbreeding in one reintroduced population initially reached three times that of a closely related species, the long-term estimated rate of inbreeding of this one population was approximately one-third that of the other species due to differences in carrying capacities of the respective reintroduction sites. The increasing number of reintroductions to suitable areas that are smaller than those I examined here suggests that it might be useful to develop long-term strategies and guidelines for reintroduction programs, which would minimize inbreeding and maintain genetic diversity. ©2010 Society for Conservation

De novo assembly of a haplotype-resolved human genome.

PubMed

Cao, Hongzhi; Wu, Honglong; Luo, Ruibang; Huang, Shujia; Sun, Yuhui; Tong, Xin; Xie, Yinlong; Liu, Binghang; Yang, Hailong; Zheng, Hancheng; Li, Jian; Li, Bo; Wang, Yu; Yang, Fang; Sun, Peng; Liu, Siyang; Gao, Peng; Huang, Haodong; Sun, Jing; Chen, Dan; He, Guangzhu; Huang, Weihua; Huang, Zheng; Li, Yue; Tellier, Laurent C A M; Liu, Xiao; Feng, Qiang; Xu, Xun; Zhang, Xiuqing; Bolund, Lars; Krogh, Anders; Kristiansen, Karsten; Drmanac, Radoje; Drmanac, Snezana; Nielsen, Rasmus; Li, Songgang; Wang, Jian; Yang, Huanming; Li, Yingrui; Wong, Gane Ka-Shu; Wang, Jun

2015-06-01

The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine.

Honey bee-inspired algorithms for SNP haplotype reconstruction problem

NASA Astrophysics Data System (ADS)

PourkamaliAnaraki, Maryam; Sadeghi, Mehdi

2016-03-01

Reconstructing haplotypes from SNP fragments is an important problem in computational biology. There have been a lot of interests in this field because haplotypes have been shown to contain promising data for disease association research. It is proved that haplotype reconstruction in Minimum Error Correction model is an NP-hard problem. Therefore, several methods such as clustering techniques, evolutionary algorithms, neural networks and swarm intelligence approaches have been proposed in order to solve this problem in appropriate time. In this paper, we have focused on various evolutionary clustering techniques and try to find an efficient technique for solving haplotype reconstruction problem. It can be referred from our experiments that the clustering methods relying on the behaviour of honey bee colony in nature, specifically bees algorithm and artificial bee colony methods, are expected to result in more efficient solutions. An application program of the methods is available at the following link. http://www.bioinf.cs.ipm.ir/software/haprs/

HERC1 polymorphisms: population-specific variations in haplotype composition.

PubMed

Yuasa, Isao; Umetsu, Kazuo; Nishimukai, Hiroaki; Fukumori, Yasuo; Harihara, Shinji; Saitou, Naruya; Jin, Feng; Chattopadhyay, Prasanta K; Henke, Lotte; Henke, Jürgen

2009-08-01

Human HERC1 is one of six HERC proteins and may play an important role in intracellular membrane trafficking. The human HERC1 gene is suggested to have been affected by local positive selection. To assess the global frequency distributions of coding and non-coding single nucleotide polymorphisms (SNPs) in the HERC1 gene, we developed a new simultaneous genotyping method for four SNPs, and applied this method to investigate 1213 individuals from 12 global populations. The results confirmed remarked differences in the allele and haplotype frequencies between East Asian and non-East Asian populations. One of the three common haplotypes observed was found to be characteristic of East Asians, who showed a relatively uniform distribution of haplotypes. Information on haplotypes would be useful for testing the function of polymorphisms in the HERC1 gene. This is the first study to investigate the distribution of HERC1 polymorphisms in various populations. (c) 2009 John Wiley & Sons, Ltd.

Worries Occasioned by Woocher's Conception of Jewish Education

ERIC Educational Resources Information Center

Pekarsky, Daniel

2012-01-01

Jonathan Woocher is to be commended for offering his thought-provoking "big picture" account of where the field of Jewish education has been and where, if it is to be successful, it needs to be going under the conditions of life in the 21st century. Woocher's capacity to use an array of relevant perspectives and literatures to illuminate the…

Short communication: casein haplotype variability in sicilian dairy goat breeds.

PubMed

Gigli, I; Maizon, D O; Riggio, V; Sardina, M T; Portolano, B

2008-09-01

In the Mediterranean region, goat milk production is an important economic activity. In the present study, 4 casein genes were genotyped in 5 Sicilian goat breeds to 1) identify casein haplotypes present in the Argentata dell'Etna, Girgentana, Messinese, Derivata di Siria, and Maltese goat breeds; and 2) describe the structure of the Sicilian goat breeds based on casein haplotypes and allele frequencies. In a sample of 540 dairy goats, 67 different haplotypes with frequency >or=0.01 and 27 with frequency >or=0.03 were observed. The most common CSN1S1-CSN2-CSN1S2-CSN3 haplotype for Derivata di Siria and Maltese was FCFB (0.17 and 0.22, respectively), whereas for Argentata dell'Etna, Girgentana and Messinese was ACAB (0.06, 0.23, and 0.10, respectively). According to the haplotype reconstruction, Argentata dell'Etna, Girgentana, and Messinese breeds presented the most favorable haplotype for cheese production, because the casein concentration in milk of these breeds might be greater than that in Derivata di Siria and Maltese breeds. Based on a cluster analysis, the breeds formed 2 main groups: Derivata di Siria, and Maltese in one group, and Argentata dell'Etna and Messinese in the other; the Girgentana breed was between these groups but closer to the latter.

Extraordinary Evil or Common Malevolence? Evaluating the Jewish Holocaust.

ERIC Educational Resources Information Center

Lackey, Douglas P.

1986-01-01

Considers and rejects the hypothesis of Frackenheim, Wiesel and others that the Jewish Holocaust contains some qualitative or quantitatively distinct moral evil. It argues that the intentions and vices of mass murderers are qualitatively indistinguishable from those of the common murderer, and that the evils of six million individual murders are…

"Look, Each Side Says Something Different:" The Impact of Competing History Teaching Approaches on Jewish and Arab Adolescents' Discussions of the Jewish-Arab Conflict

ERIC Educational Resources Information Center

Goldberg, Tsafrir; Ron, Yiftach

2014-01-01

There is growing interest in the impact of Jewish and Arab historical narratives on intergroup relations and conflict. A randomized placement comparative study set out to examine it empirically. Conventional-Authoritative official narrative, Empathetic Dual narrative, and Critical-Disciplinary multiple-source teaching interventions were designed…

Genetic analysis of captive proboscis monkeys.

PubMed

Ogata, Mitsuaki; Seino, Satoru

2015-01-01

Information on the genetic relationships of captive founders is important for captive population management. In this study, we investigated DNA polymorphisms of four microsatellite loci and the mitochondrial control region sequence of five proboscis monkeys residing in a Japanese zoo as captive founders, to clarify their genetic relationship. We found that two of the five monkeys appeared to be genetically related. Furthermore, the haplotypes of the mitochondrial control region of the five monkeys were well differentiated from the haplotypes previously reported from wild populations from the northern area of Borneo, indicating a greater amount of genetic diversity in proboscis monkeys than previously reported. © 2014 Wiley Periodicals, Inc.

Mineralocorticoid receptor haplotypes sex-dependently moderate depression susceptibility following childhood maltreatment.

PubMed

Vinkers, Christiaan H; Joëls, Marian; Milaneschi, Yuri; Gerritsen, Lotte; Kahn, René S; Penninx, Brenda W J H; Boks, Marco P M

2015-04-01

The MR is an important regulator of the hypothalamic-pituitary-adrenal (HPA) axis and a prime target for corticosteroids. There is increasing evidence from both clinical and preclinical studies that the MR has different effects on behavior and mood in males and females. To investigate the hypothesis that the MR sex-dependently influences the relation between childhood maltreatment and depression, we investigated three common and functional MR haplotypes (GA, CA, and CG haplotype, based on rs5522 and rs2070951) in a population-based cohort (N = 665) and an independent clinical cohort from the Netherlands Study of Depression and Anxiety (NESDA) (N = 1639). The CA haplotype sex-dependently moderated the relation between childhood maltreatment and depressive symptoms both in the population-based sample (sex × maltreatment × haplotype: β = -4.07, P = 0.029) and in the clinical sample (sex × maltreatment × haplotype, β = -2.40, P = 0.011). Specifically, female individuals in the population-based sample were protected (β = -4.58, P = 2.0 e(-5)), whereas males in the clinical sample were at increased risk (β = 2.54, P = 0.0022). In line with these results, female GA haplotype carriers displayed increased vulnerability in the population-based sample (β = 4.58, P = 7.5 e(-5)) whereas male CG-carriers showed increased resilience in the clinical sample (β = -2.71, P = 0.016). Consistently, we found a decreased lifetime MDD risk for male GA haplotype carriers following childhood maltreatment but an increased risk for male CA haplotype carriers in the clinical sample. In both samples, sex-dependent effects were observed for GA-GA diplotype carriers. In summary, sex plays an important role in determining whether functional genetic variation in MR is beneficial or detrimental, with an apparent female advantage for the CA haplotype but male advantage for the GA and CG haplotype. These sex-dependent effects of MR on depression susceptibility following childhood

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

PubMed

Brusa, Roberta; Magri, Francesca; Papadimitriou, Dimitra; Govoni, Alessandra; Del Bo, Roberto; Ciscato, Patrizia; Savarese, Marco; Cinnante, Claudia; Walter, Maggie C; Abicht, Angela; Bulst, Stefanie; Corti, Stefania; Moggio, Maurizio; Bresolin, Nereo; Nigro, Vincenzo; Comi, Giacomo Pietro

2018-04-13

Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities. Next generation sequencing analysis detected a homozygous frameshift mutation in the TCAP gene (c.90_91del), previously described in one Turkish family. Immunostaining and Western blot analysis showed complete absence of telethonin. Interestingly, Single Nucleotide Polymorphism analysis of the 10 Mb genomic region containing the TCAP gene showed a shared homozygous haplotype of both the Greek and the Turkish patients, thus suggesting a possible founder effect of TCAP gene c.90_91del mutation in this part of the Mediterranean area. Copyright © 2018 Elsevier B.V. All rights reserved.

Fundamentals of Intelligence: Prudential Reason and the Founders' Executive.

ERIC Educational Resources Information Center

Broyles, David

1989-01-01

Through an analysis of the Federalist and Anti-federalist debates the authors examine the intent of the founders of the U.S. Constitution in conceptualizing the office of the president. Contends that intelligence service is a major support system for the executive office. (GG)

Plasmodium falciparum Founder Populations in Western Cambodia Have Reduced Artemisinin Sensitivity In Vitro

PubMed Central

Amaratunga, Chanaki; Witkowski, Benoit; Dek, Dalin; Try, Vorleak; Khim, Nimol; Miotto, Olivo

2014-01-01

Reduced Plasmodium falciparum sensitivity to short-course artemisinin (ART) monotherapy manifests as a long parasite clearance half-life. We recently defined three parasite founder populations with long half-lives in Pursat, western Cambodia, where reduced ART sensitivity is prevalent. Using the ring-stage survival assay, we show that these founder populations have reduced ART sensitivity in vitro at the early ring stage of parasite development and that a genetically admixed population contains subsets of parasites with normal or reduced ART sensitivity. PMID:24867977

A man of his country and his time: Jewish influences on Lev Semionovich Vygotsky's world view.

PubMed

Kotik-Friedgut, Bella; Friedgut, Theodore H

2008-02-01

Lev Semionovich Vygotsky created the cultural-historical school of psychology, yet all too few of those writing about his work take into account the family, education, and cultural tradition from which he came. The authors contend that the Jewish nature of these elements was of some importance in forming his personality and his consciousness. The 1st part of the article traces his early upbringing, describes the Jewishness of his environment, notes 3 instances in which his "otherness" was imprinted on his consciousness, and points to the sources of his determination to forge a harmonious synthesis with his environment. The 2nd part examines his writings, both earlier journalistic and mature psychological, and points to evidence of the influence of his Jewish upbringing and environment on his work.

Fitchi: haplotype genealogy graphs based on the Fitch algorithm.

PubMed

Matschiner, Michael

2016-04-15

: In population genetics and phylogeography, haplotype genealogy graphs are important tools for the visualization of population structure based on sequence data. In this type of graph, node sizes are often drawn in proportion to haplotype frequencies and edge lengths represent the minimum number of mutations separating adjacent nodes. I here present Fitchi, a new program that produces publication-ready haplotype genealogy graphs based on the Fitch algorithm. http://www.evoinformatics.eu/fitchi.htm : michaelmatschiner@mac.com Supplementary data are available at Bioinformatics online. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Barriers to cancer screening among Orthodox Jewish women.

PubMed

Tkatch, Rifky; Hudson, Janella; Katz, Anne; Berry-Bobovski, Lisa; Vichich, Jennifer; Eggly, Susan; Penner, Louis A; Albrecht, Terrance L

2014-12-01

The increased risk of genetic cancer mutations for Ashkenazi Jews is well known. However, little is known about the cancer-related health behaviors of a subset of Ashkenazi Jews, Orthodox Jews, who are a very religious and insular group. This study partnered with Rabbinical leadership and community members in an Orthodox Jewish community to investigate barriers to cancer screening in this community. Orthodox Jewish women were recruited to participate in focus groups designed to elicit their perspectives on barriers to cancer screening. A total of five focus groups were conducted, consisting of 3-5 members per group, stratified by age and family history of cancer. Focus groups were audio recorded and transcribed. Transcripts were coded using conventional content analysis. The resulting themes identified as barriers to cancer screening were: preservation of hidden miracles, fate, cost, competing priorities, lack of culturally relevant programming, lack of information, and fear. These results provide a unique perspective on barriers to cancer screening in a high risk but understudied population. Findings from this study may serve to inform culturally appropriate cancer education programs to overcome barriers to screening in this and other similar communities.

Public Health in the Vilna Ghetto as a Form of Jewish Resistance

PubMed Central

Beinfeld, Solon; Hildebrandt, Sabine; Glantz, Leonard; Grodin, Michael A.

2015-01-01

We describe the system of public health that evolved in the Vilna Ghetto as an illustrative example of Jewish innovation and achievement during the Holocaust. Furthermore, we argue that by cultivating a sophisticated system of public health, the ghetto inmates enacted a powerful form of Jewish resistance, directly thwarting the intention of the Nazis to eliminate the inhabitants by starvation, epidemic, and exposure. In doing so, we aim to highlight applicable lessons for the broader public health literature. We hope that this unique story may gain its rightful place in the history of public health as an insightful case study of creative and progressive solutions to universal health problems in one of the most challenging environments imaginable. PMID:25521892

Polymorphism at Expressed DQ and DR Loci in Five Common Equine MHC Haplotypes

PubMed Central

Miller, Donald; Tallmadge, Rebecca L.; Binns, Matthew; Zhu, Baoli; Mohamoud, Yasmin Ali; Ahmed, Ayeda; Brooks, Samantha A.; Antczak, Douglas F.

2016-01-01

The polymorphism of Major Histocompatibility Complex (MHC) class II DQ and DR genes in five common Equine Leukocyte Antigen (ELA) haplotypes was determined through sequencing of mRNA transcripts isolated from lymphocytes of eight ELA homozygous horses. Ten expressed MHC class II genes were detected in horses of the ELA-A3 haplotype carried by the donor horses of the equine Bacterial Artificial Chromosome (BAC) library and the reference genome sequence: four DR genes and six DQ genes. The other four ELA haplotypes contained at least eight expressed polymorphic MHC class II loci. Next Generation Sequencing (NGS) of genomic DNA of these four MHC haplotypes revealed stop codons in the DQA3 gene in the ELA-A2, ELA-A5, and ELA-A9 haplotypes. Few NGS reads were obtained for the other MHC class II genes that were not amplified in these horses. The amino acid sequences across haplotypes contained locus-specific residues, and the locus clusters produced by phylogenetic analysis were well supported. The MHC class II alleles within the five tested haplotypes were largely non-overlapping between haplotypes. The complement of equine MHC class II DQ and DR genes appears to be well conserved between haplotypes, in contrast to the recently described variation in class I gene loci between equine MHC haplotypes. The identification of allelic series of equine MHC class II loci will aid comparative studies of mammalian MHC conservation and evolution and may also help to interpret associations between the equine MHC class II region and diseases of the horse. PMID:27889800

Identification of a common founder couple for 40 South African Afrikaner families with Parkinson's disease.

PubMed

Geldenhuys, Gerhard; Glanzmann, Brigitte; Lombard, Debbie; Boolay, Sihaam; Carr, Jonathan; Bardien, Soraya

2014-05-12

Afrikaners are a unique ethnic group in South Africa (SA) with well-documented ancestral records spanning a period of over 350 years. They are mainly descended from Dutch, German and French settlers to SA in the 17th and 18th centuries. Today several disorders in this population occur at relatively high frequencies as a result of founder effects.Objective. To determine whether a founder effect for Parkinson's disease (PD) is present in the Afrikaner population. Study participants were recruited from the Movement Disorders Clinic at Tygerberg Hospital in Cape Town, SA, and from support groups of the Parkinson's Association of South Africa. Standard methods for genealogical research in SA on hereditary diseases were used including interviews and searches in sources such as state archives, the Huguenot Museum in Franschhoek, marriage and baptismal records, and tombstone inscriptions. For 40 of the PD families, there was only a single most recent ancestral couple common to all of the families. On average there are between three and four ancestral lines to the founder couple per proband (range 1 -14). If genetic studies confirm the presence of a founder effect for PD in Afrikaners, this would imply that there is a large number of individuals from this ethnic group who may potentially be at risk of developing this debilitating condition. This study illustrates and reinforces the concept that genealogical analysis is a powerful tool for identification of founder effects for various disorders in the Afrikaner population.

Jewish Education, Past and Present: Israel Friedlaender Re-Visited

ERIC Educational Resources Information Center

Graff, Gil

2016-01-01

A century ago, Israel Friedlaender--scholar, communal activist, and educator--played a key role in such educational institutions as the Teachers Institute of JTS, the Bureau of Jewish Education, the Menorah Society, Young Israel, and Young Judea. A JTS professor and prolific writer, Friedlaender has been described as "the teacher of the…

Outer Limits of Biotechnologies: A Jewish Perspective

PubMed Central

Loike, John D.; Kadish, Alan

2018-01-01

A great deal of biomedical research focuses on new biotechnologies such as gene editing, stem cell biology, and reproductive medicine, which have created a scientific revolution. While the potential medical benefits of this research may be far-reaching, ethical issues related to non-medical applications of these technologies are demanding. We analyze, from a Jewish legal perspective, some of the ethical conundrums that society faces in pushing the outer limits in researching these new biotechnologies. PMID:29406847

Hereditary breast/ovarian cancer--pitfalls in genetic counseling.

PubMed

Dagan, E; Gershoni-Baruch, R

2001-10-01

Genetic counseling and risk assessment, given to women with a family history of breast/ovarian cancer, are regularly based on pedigree analysis. In the Ashkenazi Jewish population, hereditary breast/ovarian cancer is mainly attributed to three founder mutations, namely, 185delAG, 5382insC, and 6174delT, in BRCA1/2 genes. The overall frequency of these mutations, in the Jewish Ashkenazi population, is as high as 2.5%. Based on clinical and family history data, the results of BRCA molecular testing, in Ashkenazi individuals at risk, are appropriately anticipated in most cases. Here we report on five families, in which the segregation of BRCA1/2 mutations, in affected and unaffected family members, was unexpected, emphasizing the need to test, for founder mutations, every Ashkenazi individual at risk, irrespective of the genotype of affected family members. Ultimately, risk assessments and recommendations, in Ashkenazi women, should be invariably based on the results of genetic testing.

Association of HLA haplotype with alopecia areata in Chinese Hans.

PubMed

Xiao, F-L; Ye, D-Q; Yang, S; Zhou, F-S; Zhou, S-M; Zhu, Y-G; Liang, Y-H; Ren, Y-Q; Zhang, X-J

2006-11-01

Some studies have shown discrepancies in human leucocyte antigen (HLA) associated with alopecia areata (AA) between different ethnic populations. To investigate whether HLA-I, -DQA1 and -DQB1 alleles and the HLA haplotype are associated with AA, and the correlation between the HLA haplotype profile, age of onset and severity of AA in Chinese Hans. The polymerase chain reaction-sequence specific primer (PCR-SSP) method was used to analyse the frequencies of HLA class I, -DQA1 and -DQB1 alleles in 192 patients with AA and 252 controls in Chinese Hans. The linkage disequilibrium was calculated using the 2 x 2 table. The 24 two-locus haplotypes [including A*02-B*18, A*02-B*27, A*02-B*52, A*02-Cw*0704, A*02-DQA1*0104, A*02-DQB1*0604, A*02-DQB1*0606, B*18-Cw*0704, B*18-DQA1*0104, B*18-DQA1*0302, B*18-DQB1*0606, B*27-Cw*0704, B*27-DQA1*0104, B*27-DQA1*0302, B*52-Cw*0704, B*52-DQA1*0104, B*52-DQA1*0302, B52-DQB1*0606, Cw*0704-DQA1*0104, Cw*0704-DQA1*0302, Cw*0704-DQB1*0606, DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, DQA1*0302-DQB1*0606 (P<0.05)] were associated with AA, while eight extended haplotypes (A*02-B*18-DQA1*0104, A*02-B*27-DQA1*0104, A*02-B*52-DQA1*0104, A*02-B*52-DQA1*0302, A*02-B*52-DQB1*0606, B*52-Cw*0704-DQA1*0104, B*52-Cw*0704-DQA1*0302, A*02-B*52-DQA1*0302-DQB1*0606) were found to be related to AA in Chinese Hans. Through stratified analysis, we found that the extended haplotype B*52-Cw*0704-DQA1*0302 was related to early onset of AA, and no haplotype was only associated with severe AA. This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA. The haplotype B*52-Cw*0704-DQA1*0302 was identified to be related to early onset of AA. Our results provide some information for future research on predisposing genes in HLA regions in Chinese Hans.

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

PubMed Central

Antoniou, A; Pharoah, P; Narod, S; Risch, H; Eyfjord, J; Hopper, J; Olsson, H; Johannsson, O; Borg, A; Pasini, B; Radice, P; Manoukian, S; Eccles, D; Tang, N; Olah, E; Anton-Culver, H; Warner, E; Lubinski, J; Gronwald, J; Gorski, B; Tulinius, H; Thorlacius, S; Eerola, H; Nevanlinna, H; Syrjakoski, K; Kallioniemi, O; Thompson, D; Evans, C; Peto, J; Lalloo, F; Evans, D; Easton, D

2005-01-01

A recent report estimated the breast cancer risks in carriers of the three Ashkenazi founder mutations to be higher than previously published estimates derived from population based studies. In an attempt to confirm this, the breast and ovarian cancer risks associated with the three Ashkenazi founder mutations were estimated using families included in a previous meta-analysis of populatrion based studies. The estimated breast cancer risks for each of the founder BRCA1 and BRCA2 mutations were similar to the corresponding estimates based on all BRCA1 or BRCA2 mutations in the meta-analysis. These estimates appear to be consistent with the observed prevalence of the mutations in the Ashkenazi Jewish population. PMID:15994883

Dimensional Anxiety Mediates Linkage of GABRA2 Haplotypes With Alcoholism

PubMed Central

Enoch, Mary-Anne; Schwartz, Lori; Albaugh, Bernard; Virkkunen, Matti; Goldman, David

2015-01-01

The GABAAα2 receptor gene (GABRA2) modulates anxiety and stress response. Three recent association studies implicate GABRA2 in alcoholism, however in these papers both common, opposite-configuration haplotypes in the region distal to intron3 predict risk. We have now replicated the GABRA2 association with alcoholism in 331 Plains Indian men and women and 461 Finnish Caucasian men. Using a dimensional measure of anxiety, harm avoidance (HA), we also found that the association with alcoholism is mediated, or moderated, by anxiety. Nine SNPs were genotyped revealing two haplotype blocks. Within the previously implicated block 2 region, we identified the two common, opposite-configuration risk haplotypes, A and B. Their frequencies differed markedly in Finns and Plains Indians. In both populations, most block 2 SNPs were significantly associated with alcoholism. The associations were due to increased frequencies of both homozygotes in alcoholics, indicating the possibility of alcoholic subtypes with opposite genotypes. Congruently, there was no significant haplotype association. Using HA as an indicator variable for anxiety, we found haplotype linkage to alcoholism with high and low dimensional anxiety, and to HA itself, in both populations. High HA alcoholics had the highest frequency of the more abundant haplotype (A in Finns, B in Plains Indians); low HA alcoholics had the highest frequency of the less abundant haplotype (B in Finns, A in Plains Indians) (Finns: P α0.007, OR α2.1, Plains Indians: P α0.040, OR α1.9). Non-alcoholics had intermediate frequencies. Our results suggest that within the distal GABRA2 region is a functional locus or loci that may differ between populations but that alters risk for alcoholism via the mediating action of anxiety. PMID:16874763

Jewish Holocaust Histories and the Work of Chronological Narratives

ERIC Educational Resources Information Center

Silverstein, Jordana

2012-01-01

This article examines the ways that, in Holocaust education in Jewish schools in Melbourne and New York at the beginning of the 21st century, knowledge of the Holocaust is transferred to students in chronological form. It begins by asking: What work do chronological narratives do within the Holocaust historical narratives offered within Jewish…

Inclusion Coordinators at Jewish Summer Camps: Roles and Challenges

ERIC Educational Resources Information Center

Shefter, Laura; Uhrman, Abigail L.; Tobin, Lisa; Kress, Jeffrey S.

2017-01-01

As appreciation of the impact of Jewish camping has grown, so have efforts to increase the number of campers able to participate in these settings. Inclusion of campers with disabilities, though not a new phenomenon, has likewise expanded. As more services are provided to campers with disabilities, more camps are hiring an Inclusion Coordinator to…

The Art of Living Together: Reducing Stereotyping and Prejudicial Attitudes through the Arab-Jewish Class Exchange Program (CEP)

ERIC Educational Resources Information Center

Berger, Rony; Abu-Raiya, Hisham; Gelkopf, Marc

2015-01-01

This study evaluated the efficacy of a newly developed Arab-Jewish Class Exchange Program (CEP) in reducing stereotyping and prejudicial attitudes between Israeli-Jewish and Israeli-Palestinian children. The CEP builds on the core principles of contact theory and is designed to help participants cultivate empathy and tolerance toward the other.…

HLA-G Haplotypes Are Differentially Associated with Asthmatic Features.

PubMed

Ribeyre, Camille; Carlini, Federico; René, Céline; Jordier, François; Picard, Christophe; Chiaroni, Jacques; Abi-Rached, Laurent; Gouret, Philippe; Marin, Grégory; Molinari, Nicolas; Chanez, Pascal; Paganini, Julien; Gras, Delphine; Di Cristofaro, Julie

2018-01-01

Human leukocyte antigen (HLA)-G, a HLA class Ib molecule, interacts with receptors on lymphocytes such as T cells, B cells, and natural killer cells to influence immune responses. Unlike classical HLA molecules, HLA-G expression is not found on all somatic cells, but restricted to tissue sites, including human bronchial epithelium cells (HBEC). Individual variation in HLA-G expression is linked to its genetic polymorphism and has been associated with many pathological situations such as asthma, which is characterized by epithelium abnormalities and inflammatory cell activation. Studies reported both higher and equivalent soluble HLA-G (sHLA-G) expression in different cohorts of asthmatic patients. In particular, we recently described impaired local expression of HLA-G and abnormal profiles for alternatively spliced isoforms in HBEC from asthmatic patients. sHLA-G dosage is challenging because of its many levels of polymorphism (dimerization, association with β2-microglobulin, and alternative splicing), thus many clinical studies focused on HLA-G single-nucleotide polymorphisms as predictive biomarkers, but few analyzed HLA-G haplotypes. Here, we aimed to characterize HLA-G haplotypes and describe their association with asthmatic clinical features and sHLA-G peripheral expression and to describe variations in transcription factor (TF) binding sites and alternative splicing sites. HLA - G haplotypes were differentially distributed in 330 healthy and 580 asthmatic individuals. Furthermore, HLA-G haplotypes were associated with asthmatic clinical features showed. However, we did not confirm an association between sHLA-G and genetic, biological, or clinical parameters. HLA-G haplotypes were phylogenetically split into distinct groups, with each group displaying particular variations in TF binding or RNA splicing sites that could reflect differential HLA-G qualitative or quantitative expression, with tissue-dependent specificities. Our results, based on a multicenter

HLA-G Haplotypes Are Differentially Associated with Asthmatic Features

PubMed Central

Ribeyre, Camille; Carlini, Federico; René, Céline; Jordier, François; Picard, Christophe; Chiaroni, Jacques; Abi-Rached, Laurent; Gouret, Philippe; Marin, Grégory; Molinari, Nicolas; Chanez, Pascal; Paganini, Julien; Gras, Delphine; Di Cristofaro, Julie

2018-01-01

Human leukocyte antigen (HLA)-G, a HLA class Ib molecule, interacts with receptors on lymphocytes such as T cells, B cells, and natural killer cells to influence immune responses. Unlike classical HLA molecules, HLA-G expression is not found on all somatic cells, but restricted to tissue sites, including human bronchial epithelium cells (HBEC). Individual variation in HLA-G expression is linked to its genetic polymorphism and has been associated with many pathological situations such as asthma, which is characterized by epithelium abnormalities and inflammatory cell activation. Studies reported both higher and equivalent soluble HLA-G (sHLA-G) expression in different cohorts of asthmatic patients. In particular, we recently described impaired local expression of HLA-G and abnormal profiles for alternatively spliced isoforms in HBEC from asthmatic patients. sHLA-G dosage is challenging because of its many levels of polymorphism (dimerization, association with β2-microglobulin, and alternative splicing), thus many clinical studies focused on HLA-G single-nucleotide polymorphisms as predictive biomarkers, but few analyzed HLA-G haplotypes. Here, we aimed to characterize HLA-G haplotypes and describe their association with asthmatic clinical features and sHLA-G peripheral expression and to describe variations in transcription factor (TF) binding sites and alternative splicing sites. HLA-G haplotypes were differentially distributed in 330 healthy and 580 asthmatic individuals. Furthermore, HLA-G haplotypes were associated with asthmatic clinical features showed. However, we did not confirm an association between sHLA-G and genetic, biological, or clinical parameters. HLA-G haplotypes were phylogenetically split into distinct groups, with each group displaying particular variations in TF binding or RNA splicing sites that could reflect differential HLA-G qualitative or quantitative expression, with tissue-dependent specificities. Our results, based on a multicenter

β3 Integrin Haplotype Influences Gene Regulation and Plasma von Willebrand Factor Activity

PubMed Central

Payne, Katie E; Bray, Paul F; Grant, Peter J; Carter, Angela M

2008-01-01

The Leu33Pro polymorphism of the gene encoding β3 integrin (ITGB3) is associated with acute coronary syndromes and influences platelet aggregation. Three common promoter polymorphisms have also been identified. The aims of this study were to (1) investigate the influence of the ITGB3 −400C/A, −425A/C and −468G/A promoter polymorphisms on reporter gene expression and nuclear protein binding and (2) determine genotype and haplotype associations with platelet αIIbβ3 receptor density. Promoter haplotypes were introduced into an ITGB3 promoter-pGL3 construct by site directed mutagenesis and luciferase reporter gene expression analysed in HEL and HMEC-1 cells. Binding of nuclear proteins was assessed by electrophoretic mobility shift assay. The association of ITGB3 haplotype with platelet αIIbβ3 receptor density was determined in 223 subjects. Species conserved motifs were identified in the ITGB3 promoter in the vicinity of the 3 polymorphisms. The GAA, GCC, AAC, AAA and ACC constructs induced ~50% increased luciferase expression relative to the GAC construct in both cell types. Haplotype analysis including Leu33Pro indicated 5 common haplotypes; no associations between ITGB3 haplotypes and receptor density were found. However, the GCC-Pro33 haplotype was associated with significantly higher vWF activity (128.6 [112.1–145.1]%) compared with all other haplotypes (107.1 [101.2–113.0]%, p=0.02). In conclusion, the GCC-Pro33 haplotype was associated with increased vWF activity but not with platelet αIIbβ3 receptor density, which may indicate ITGB3 haplotype influences endothelial function. PMID:18045606

Delivering Bad News: An Approach According to Jewish Scriptures

PubMed Central

Naimer, Sody A.; Prero, Moshe

2014-01-01

Despite a preoccupation in the medical literature with developing an effective approach for breaking bad news, the sources are based on personal opinion alone and only in some instances on qualitative research. Recognizing the gravity of this topic coupled with respect for the wisdom of the written and oral Jewish scriptures, this work is an attempt to delve into the diverse ancient writings to draw conclusions regarding a recommended methodology to guide and inform this task. It is interesting to learn that most elements related to this topic have previously been raised in various forms in the scriptures. The issues range from where, when, and how the bearer of bad news should undertake this duty, to details such as the environment, the format, the speed, and depth of the details to be disclosed. The essence of this paper is to enrich the reader using both positive and negative examples found in the Jewish heritage. Adopting these principles will hopefully provide an effective method for performing this unpleasant obligation, with the goal of limiting harmful consequences as much as possible. PMID:25120920

Delivering bad news: an approach according to jewish scriptures.

PubMed

Naimer, Sody A; Prero, Moshe

2014-07-01

Despite a preoccupation in the medical literature with developing an effective approach for breaking bad news, the sources are based on personal opinion alone and only in some instances on qualitative research. Recognizing the gravity of this topic coupled with respect for the wisdom of the written and oral Jewish scriptures, this work is an attempt to delve into the diverse ancient writings to draw conclusions regarding a recommended methodology to guide and inform this task. It is interesting to learn that most elements related to this topic have previously been raised in various forms in the scriptures. The issues range from where, when, and how the bearer of bad news should undertake this duty, to details such as the environment, the format, the speed, and depth of the details to be disclosed. The essence of this paper is to enrich the reader using both positive and negative examples found in the Jewish heritage. Adopting these principles will hopefully provide an effective method for performing this unpleasant obligation, with the goal of limiting harmful consequences as much as possible.

Excoriation (skin-picking) disorder in adults: a cross-cultural survey of Israeli Jewish and Arab samples.

PubMed

Leibovici, Vera; Koran, Lorrin M; Murad, Sari; Siam, Ihab; Odlaug, Brian L; Mandelkorn, Uri; Feldman-Weisz, Vera; Keuthen, Nancy J

2015-04-01

We sought to estimate the lifetime prevalence of Excoriation (Skin-Picking) Disorder (SPD) in the Israeli adult population as a whole and compare SPD prevalence in the Jewish and Arab communities. We also explored demographic, medical and psychological correlates of SPD diagnosis. Questionnaires and scales screening for SPD, and assessing the severity of perceived stress, depression, obsessive-compulsive disorder (OCD), body dysmorphic disorder (BDD), alcohol use, illicit drug use, and medical disorders were completed in a sample of 2145 adults attending medical settings. The lifetime prevalence of SPD was 5.4% in the total sample; it did not differ between genders or within Jewish and Arab subsamples. Severity of depression (p<0.001), OCD (p<0.001) and perceived stress (p=<0.001) were greater in the SPD positive sample. Similarly, diagnoses of BDD (p=0.02) and generalized anxiety (p=0.03) were significantly more common in the SPD-positive respondents. Alcohol use and illicit substance use were significantly more common among SPD positive respondents in the total sample (both p's=0.01) and the Jewish subsample (p=0.03 and p=0.02, respectively). Hypothyroidism was more prevalent in the SPD-positive Jewish subsample (p=0.02). In the total sample, diabetes mellitus was more common in women than in men (p=0.04). Lifetime SPD appears to be relatively common in Israeli adults and associated with other mental disorders. Differences in the self-reported medical and psychiatric comorbidities between the Jewish and Arab subsamples suggest the possibility of cross-cultural variation in the correlates of this disorder. Copyright © 2014 Elsevier Inc. All rights reserved.

HIV-1 infections with multiple founders are associated with higher viral loads than infections with single founders.

PubMed

Janes, Holly; Herbeck, Joshua T; Tovanabutra, Sodsai; Thomas, Rasmi; Frahm, Nicole; Duerr, Ann; Hural, John; Corey, Lawrence; Self, Steve G; Buchbinder, Susan P; McElrath, M Juliana; O'Connell, Robert J; Paris, Robert M; Rerks-Ngarm, Supachai; Nitayaphan, Sorachai; Pitisuttihum, Punnee; Kaewkungwal, Jaranit; Robb, Merlin L; Michael, Nelson L; Mullins, James I; Kim, Jerome H; Gilbert, Peter B; Rolland, Morgane

2015-10-01

Given the variation in the HIV-1 viral load (VL) set point across subjects, as opposed to a fairly stable VL over time within an infected individual, it is important to identify the characteristics of the host and virus that affect VL set point. Although recently infected individuals with multiple phylogenetically linked HIV-1 founder variants represent a minority of HIV-1 infections, we found--n two different cohorts--hat more diverse HIV-1 populations in early infection were associated with significantly higher VL 1 year after HIV-1 diagnosis.

Leadership for Equity and Social Justice in Arab and Jewish Schools in Israel: Leadership Trajectories and Pedagogical Praxis

ERIC Educational Resources Information Center

Arar, Khalid Husny

2015-01-01

The research investigated how principals in Israel's Jewish and Arab school systems perceive and practice their role in promoting equitable education to bridge socio-economic and pedagogic gaps. It asked how Jewish and Arab principals understand the concept of social justice and what they do in order to promote social justice reality in their…

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.

PubMed

Frey, Melissa K; Sandler, Gabriella; Sobolev, Rachel; Kim, Sarah H; Chambers, Rachelle; Bassett, Rebecca Y; Martineau, Jessica; Sapra, Katherine J; Boyd, Leslie; Curtin, John P; Pothuri, Bhavana; Blank, Stephanie V

2017-07-01

To evaluate the results of multigene panel testing among Ashkenazi Jewish compared with non-Ashkenazi Jewish patients. We reviewed the medical records for all patients who underwent multigene panel testing and targeted BRCA1/2 testing at a single institution between 6/2013-1/2015. Clinical actionability for identified pathogenic mutations was characterized based on the National Comprehensive Cancer Network (NCCN) guidelines and consensus statements and expert opinion for genes not addressed by these guidelines. Four hundred and fifty-four patients underwent multigene panel screening, including 138 Ashkenazi Jewish patients. The median patient age was fifty-two years. Three hundred and fifty-four patients (78%) had a personal history of cancer. Two hundred and fifty-one patients had breast cancer, 49, ovarian cancer, 26, uterine cancer and 20, colorectal cancer. We identified 62 mutations in 56 patients and 291 variants of uncertain significance in 196 patients. Among the 56 patients with mutations, 51 (91%) had actionable mutations. Twenty mutations were identified by multigene panels among Ashkenazi Jewish patients, 18 of which were in genes other than BRCA1/2. A review of targeted BRCA1/2 testing performed over the same study period included 103 patients and identified six mutations in BRCA1/2, all of which occurred in Ashkenazi Jewish patients. Among all Ashkenazi Jewish patients undergoing genetic testing, 25/183 (14%) had a mutation, 24/25 of which were actionable (96%) and 17/25 patients (68%) had mutations in non BRCA1/2 genes. With the rapid acceptance of multigene panels there is a pressing need to understand how this testing will affect patient management. While traditionally many Ashkenazi Jewish patients have undergone targeted BRCA1/2 testing, our data suggest consideration of multigene panels in this population as the majority of the results are clinically actionable and often in genes other than BRCA1/2. Copyright © 2017 Elsevier Inc. All rights

[Considerations relating to the body in the Jewish religion].

PubMed

Lévy, Michel

In the Jewish religion, the body is the receptacle of the soul, and both are connected. Created in God's image, the body must be respected by the caregiver and by the patient. Judaism imposes constraints, but these restrictions must be lifted if a person's life is in danger. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Novel strategies to mine alcoholism-related haplotypes and genes by combining existing knowledge framework.

PubMed

Zhang, RuiJie; Li, Xia; Jiang, YongShuai; Liu, GuiYou; Li, ChuanXing; Zhang, Fan; Xiao, Yun; Gong, BinSheng

2009-02-01

High-throughout single nucleotide polymorphism detection technology and the existing knowledge provide strong support for mining the disease-related haplotypes and genes. In this study, first, we apply four kinds of haplotype identification methods (Confidence Intervals, Four Gamete Tests, Solid Spine of LD and fusing method of haplotype block) into high-throughout SNP genotype data to identify blocks, then use cluster analysis to verify the effectiveness of the four methods, and select the alcoholism-related SNP haplotypes through risk analysis. Second, we establish a mapping from haplotypes to alcoholism-related genes. Third, we inquire NCBI SNP and gene databases to locate the blocks and identify the candidate genes. In the end, we make gene function annotation by KEGG, Biocarta, and GO database. We find 159 haplotype blocks, which relate to the alcoholism most possibly on chromosome 1 approximately 22, including 227 haplotypes, of which 102 SNP haplotypes may increase the risk of alcoholism. We get 121 alcoholism-related genes and verify their reliability by the functional annotation of biology. In a word, we not only can handle the SNP data easily, but also can locate the disease-related genes precisely by combining our novel strategies of mining alcoholism-related haplotypes and genes with existing knowledge framework.

[Self endangerment to save life--competing Jewish legal and moral obligations].

PubMed

Gesundheit, Benjamin; Zlotnick, Eitan; Wygoda, Michael; Rosenzweig, Joshua P; Steinberg, Avraham

2014-11-01

The obligation to help others often involves personal risk. Consequently, the scope and boundaries of this obligation can present a complex dilemma, which has practical and moral implications, even in the world of medicine. In Jewish medical ethics, the dilemma stems from a confrontation between the duty to help others according to the biblical commandment: "Do not stand idly by your fellow's blood" on the one hand, and between the right and duty of man to defend himself, which is anchored in Jewish law. This article surveys the sources of this quandary in Jewish texts throughout the ages such as the Bible, Mishnah, Talmud, and responsa literature in various contexts. The discussion highlights the essential difference between the formal demands of the law, which protects human rights of self-preservation, and the moral requirement to help others even if it may include personal risk. The sources suggest distinguishing between various levels of risk ranging from high-risk to reasonable or low risk. In this way, the classic sources, provide the foundation and the tools for grappling with modern contemporary Halachic questions such as organ transplantation, and generate a Torah value-based framework to deal with new situations that may arise in the future. It is critical to assess the level of risk and the chances for success, along with other subjective considerations, in order to ensure the optimal ethical course of action.

Association Between Chloroplast DNA and Mitochondrial DNA Haplotypes in Prunus spinosa L. (Rosaceae) Populations across Europe

PubMed Central

MOHANTY, APARAJITA; MARTÍN, JUAN PEDRO; GONZÁLEZ, LUIS MIGUEL; AGUINAGALDE, ITZIAR

2003-01-01

Chloroplast DNA (cpDNA) and mitochondrial DNA (mtDNA) were studied in 24 populations of Prunus spinosa sampled across Europe. The cpDNA and mtDNA fragments were amplified using universal primers and subsequently digested with restriction enzymes to obtain the polymorphisms. Combinations of all the polymorphisms resulted in 33 cpDNA haplotypes and two mtDNA haplotypes. Strict association between the cpDNA haplotypes and the mtDNA haplotypes was detected in most cases, indicating conjoint inheritance of the two genomes. The most frequent and abundant cpDNA haplotype (C20; frequency, 51 %) is always associated with the more frequent and abundant mtDNA haplotype (M1; frequency, 84 %). All but two of the cpDNA haplotypes associated with the less frequent mtDNA haplotype (M2) are private haplotypes. These private haplotypes are phylogenetically related but geographically unrelated. They form a separate cluster on the minimum‐length spanning tree. PMID:14534199

Parenting Style as a Moderator of Effects of Political Violence: Cross-Cultural Comparison of Israeli Jewish and Arab Children

ERIC Educational Resources Information Center

Slone, Michelle; Shechner, Tomer; Farah, Oula Khoury

2012-01-01

This study examined cross-cultural differences in the moderating function of authoritarian, authoritative, and permissive parenting styles for Jewish and Arab Israeli children exposed to political violence. Respondents were parents and children aged 10-11 from 94 families (42 Arab, 52 Jewish). Parents completed the Parenting Styles and Dimensions…

Teaching Evolution through the Founder Effect: A Standards-Based Activity.

ERIC Educational Resources Information Center

Leonard, William H.; Edmondson, Elizabeth

2003-01-01

Presents an activity called "The Hardy-Weinberg Equilibrium, Founder Effect, and Evolution" to allow students to learn about evolution in an engaging, constructivist manner. The activity also uses the tools of mathematics to learn several related biology concepts. (Author/SOE)

Identification and genetic effect of haplotype in the bovine BMP7 gene.

PubMed

Huang, Yong-Zhen; Wang, Xin-Lei; He, Hua; Lan, Xian-Yong; Lei, Chu-Zhao; Zhang, Chun-Lei; Chen, Hong

2013-12-15

Bone morphogenetic proteins (BMPs) are peptide growth factors belonging to the transforming growth factor-beta (TGF-β) superfamily, and some members of the BMP family support white adipocyte differentiation. In this study, we focused on the BMP7 which singularly promotes the differentiation of brown preadipocytes. Haplotypes involving 5 single nucleotide polymorphism (SNP) sites in the bovine BMP7 gene were identified and their effect on body weight was analyzed. 16 haplotypes and 18 combined haplotypes were revealed and the linkage disequilibrium was assessed in the cattle population with 602 individuals representing three main cattle breeds from China. The results showed that haplotypes 3, 10 and 14 were predominant and accounted for 75.64%, 69.85%, and 83.36% in Nanyang, Qinchuan and Jiaxian cattle breeds, respectively. The statistical analyses indicated that the SNP 1, 4, and 5 are associated with the body weight, body length, and heart girth at 12 and 24 months in Nanyang cattle population (P<0.05), whereas there is no significant association between their 16 haplotypes and 18 combined haplotypes. Our results provide evidence that some SNPs and haplotypes in BMP7 are associated with growth traits, and may be utilized as a genetic marker in marker-assisted selection for beef cattle breeding programs. Copyright © 2013. Published by Elsevier B.V.

β-globin gene cluster haplotypes in ethnic minority populations of southwest China

PubMed Central

Sun, Hao; Liu, Hongxian; Huang, Kai; Lin, Keqin; Huang, Xiaoqin; Chu, Jiayou; Ma, Shaohui; Yang, Zhaoqing

2017-01-01

The genetic diversity and relationships among ethnic minority populations of southwest China were investigated using seven polymorphic restriction enzyme sites in the β-globin gene cluster. The haplotypes of 1392 chromosomes from ten ethnic populations living in southwest China were determined. Linkage equilibrium and recombination hotspot were found between the 5′ sites and 3′ sites of the β-globin gene cluster. 5′ haplotypes 2 (+−−−), 6 (−++−+), 9 (−++++) and 3′ haplotype FW3 (−+) were the predominant haplotypes. Notably, haplotype 9 frequency was significantly high in the southwest populations, indicating their difference with other Chinese. The interpopulation differentiation of southwest Chinese minority populations is less than those in populations of northern China and other continents. Phylogenetic analysis shows that populations sharing same ethnic origin or language clustered to each other, indicating current β-globin cluster diversity in the Chinese populations reflects their ethnic origin and linguistic affiliations to a great extent. This study characterizes β-globin gene cluster haplotypes in southwest Chinese minorities for the first time, and reveals the genetic variability and affinity of these populations using β-globin cluster haplotype frequencies. The results suggest that ethnic origin plays an important role in shaping variations of the β-globin gene cluster in the southwestern ethnic populations of China. PMID:28205625

Ancient mitochondrial haplotypes and evidence for intragenic recombination in a gynodioecious plant.

PubMed

Städler, Thomas; Delph, Lynda F

2002-09-03

Because of their extremely low nucleotide mutation rates, plant mitochondrial genes are generally not expected to show variation within species. Remarkably, we found nine distinct cytochrome b sequence haplotypes in the gynodioecious alpine plant Silene acaulis, with two or more haplotypes coexisting locally in each of three sampled regions. Moreover, there is evidence for intragenic recombination in the history of the haplotype sample, implying at least transient heteroplasmy of mitochondrial DNA (mtDNA). Heteroplasmy might be achieved by one of two potential mechanisms, either continuous coexistence of subgenomic fragments in low stoichiometry, or occasional paternal leakage of mtDNA. On the basis of levels of synonymous nucleotide substitutions, the average divergence time between haplotypes is estimated to be at least 15 million years. Ancient coalescence of extant haplotypes is further indicated by the paucity of fixed differences in haplotypes obtained from related species, a pattern expected under trans-specific evolution. Our data are consistent with models of frequency-dependent selection on linked cytoplasmic male-sterility factors, the putative molecular basis of females in gynodioecious populations. However, associations between marker loci and the inferred male-sterility genes can be maintained only with very low rates of recombination. Heteroplasmy and recombination between divergent haplotypes imply unexplored consequences for the evolutionary dynamics of gynodioecy, a widespread plant breeding system.

Geographic distribution of haplotype diversity at the bovine casein locus

PubMed Central

Jann, Oliver C; Ibeagha-Awemu, Eveline M; Özbeyaz, Ceyhan; Zaragoza, Pilar; Williams, John L; Ajmone-Marsan, Paolo; Lenstra, Johannes A; Moazami-Goudarzi, Katy; Erhardt, Georg

2004-01-01

The genetic diversity of the casein locus in cattle was studied on the basis of haplotype analysis. Consideration of recently described genetic variants of the casein genes which to date have not been the subject of diversity studies, allowed the identification of new haplotypes. Genotyping of 30 cattle breeds from four continents revealed a geographically associated distribution of haplotypes, mainly defined by frequencies of alleles at CSN1S1 and CSN3. The genetic diversity within taurine breeds in Europe was found to decrease significantly from the south to the north and from the east to the west. Such geographic patterns of cattle genetic variation at the casein locus may be a result of the domestication process of modern cattle as well as geographically differentiated natural or artificial selection. The comparison of African Bos taurus and Bos indicus breeds allowed the identification of several Bos indicus specific haplotypes (CSN1S1*C-CSN2*A2-CSN3*AI/CSN3*H) that are not found in pure taurine breeds. The occurrence of such haplotypes in southern European breeds also suggests that an introgression of indicine genes into taurine breeds could have contributed to the distribution of the genetic variation observed. PMID:15040901

Discovery, evaluation and distribution of haplotypes of the wheat Ppd-D1 gene.

PubMed

Guo, Zhiai; Song, Yanxia; Zhou, Ronghua; Ren, Zhenglong; Jia, Jizeng

2010-02-01

Ppd-D1 is one of the most potent genes affecting the photoperiod response of wheat (Triticum aestivum). Only two alleles, insensitive Ppd-D1a and sensitive Ppd-D1b, were known previously, and these did not adequately explain the broad adaptation of wheat to photoperiod variation. In this study, five diagnostic molecular markers were employed to identify Ppd-D1 haplotypes in 492 wheat varieties from diverse geographic locations and 55 accessions of Aegilops tauschii, the D genome donor species of wheat. Six Ppd-D1 haplotypes, designated I-VI, were identified. Types II, V and VI were considered to be more ancient and types I, III and IV were considered to be derived from type II. The transcript abundances of the Ppd-D1 haplotypes showed continuous variation, being highest for haplotype I, lowest for haplotype III, and correlating negatively with varietal differences in heading time. These haplotypes also significantly affected other agronomic traits. The distribution frequency of Ppd-D1 haplotypes showed partial correlations with both latitudes and altitudes of wheat cultivation regions. The evolution, expression and distribution of Ppd-D1 haplotypes were consistent evidentially with each other. What was regarded as a pair of alleles in the past can now be considered a series of alleles leading to continuous variation.

Tradition versus Egalitarianism in the Thinking of Jewish-American Adolescents

ERIC Educational Resources Information Center

Charme, Stuart Z.

2009-01-01

This article describes results from interviews with Jewish teenagers about the tension between adherence to tradition and commitment to egalitarianism in relation to issues like women in the rabbinate, women wearing ritual garments like "kipot" and "talitot", and gender separation at the Western Wall in Jerusalem. For many…

Discovering Jewish Studies Collections in Academic Libraries: A Practical Guide

ERIC Educational Resources Information Center

Taler, Izabella

2014-01-01

The U.S. colleges and universities offering non-sectarian educational programs in Jewish Studies rely on the support of their academic libraries for research materials and library services. For college libraries which use Library of Congress Classification scheme, it is a common practice to integrate "studies" resources into their…

How do reproductive skew and founder group size affect genetic diversity in reintroduced populations?

PubMed

Miller, K A; Nelson, N J; Smith, H G; Moore, J A

2009-09-01

Reduced genetic diversity can result in short-term decreases in fitness and reduced adaptive potential, which may lead to an increased extinction risk. Therefore, maintaining genetic variation is important for the short- and long-term success of reintroduced populations. Here, we evaluate how founder group size and variance in male reproductive success influence the long-term maintenance of genetic diversity after reintroduction. We used microsatellite data to quantify the loss of heterozygosity and allelic diversity in the founder groups from three reintroductions of tuatara (Sphenodon), the sole living representatives of the reptilian order Rhynchocephalia. We then estimated the maintenance of genetic diversity over 400 years (approximately 10 generations) using population viability analyses. Reproduction of tuatara is highly skewed, with as few as 30% of males mating across years. Predicted losses of heterozygosity over 10 generations were low (1-14%), and populations founded with more animals retained a greater proportion of the heterozygosity and allelic diversity of their source populations and founder groups. Greater male reproductive skew led to greater predicted losses of genetic diversity over 10 generations, but only accelerated the loss of genetic diversity at small population size (<250 animals). A reduction in reproductive skew at low density may facilitate the maintenance of genetic diversity in small reintroduced populations. If reproductive skew is high and density-independent, larger founder groups could be released to achieve genetic goals for management.

Haplotype estimation using sequencing reads.

PubMed

Delaneau, Olivier; Howie, Bryan; Cox, Anthony J; Zagury, Jean-François; Marchini, Jonathan

2013-10-03

High-throughput sequencing technologies produce short sequence reads that can contain phase information if they span two or more heterozygote genotypes. This information is not routinely used by current methods that infer haplotypes from genotype data. We have extended the SHAPEIT2 method to use phase-informative sequencing reads to improve phasing accuracy. Our model incorporates the read information in a probabilistic model through base quality scores within each read. The method is primarily designed for high-coverage sequence data or data sets that already have genotypes called. One important application is phasing of single samples sequenced at high coverage for use in medical sequencing and studies of rare diseases. Our method can also use existing panels of reference haplotypes. We tested the method by using a mother-father-child trio sequenced at high-coverage by Illumina together with the low-coverage sequence data from the 1000 Genomes Project (1000GP). We found that use of phase-informative reads increases the mean distance between switch errors by 22% from 274.4 kb to 328.6 kb. We also used male chromosome X haplotypes from the 1000GP samples to simulate sequencing reads with varying insert size, read length, and base error rate. When using short 100 bp paired-end reads, we found that using mixtures of insert sizes produced the best results. When using longer reads with high error rates (5-20 kb read with 4%-15% error per base), phasing performance was substantially improved. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Molecular phylogenetic identification of Fasciola flukes in Nepal.

PubMed

Shoriki, Takuya; Ichikawa-Seki, Madoka; Devkota, Bhuminand; Rana, Hari B; Devkota, Shiva P; Humagain, Sudeep K; Itagaki, Tadashi

2014-12-01

Eighty-one Fasciola flukes collected from 8 districts in Nepal were analyzed for their species identification on the basis of their spermatogenic status and nuclear ribosomal internal transcribed spacer 1 (ITS1) and for their phylogenetic relation with Fasciola flukes from other Asian countries on the basis of the mitochondrial NADH dehydrogenase subunit 1 (nad1) gene. Sixty-one flukes (75.3%) were aspermic Fasciola sp., and 20 flukes (24.7%) were identified as Fasciola gigantica. All of the aspermic flukes displayed the Fh/Fg type in ITS1, which was predominant in aspermic Fasciola sp. from China, and most (60 flukes) displayed the Fsp-ND1-N1 haplotype in the nad1, which had an identical nucleotide sequence to the major haplotype (Fg-C2) of the aspermic flukes from China. These results suggest that aspermic Fasciola sp. was introduced into Nepal from China. Furthermore, the results of the diversity indices, neutrality indices, and median-joining network analysis with reference haplotypes from Asian countries suggest that aspermic Fasciola sp. rapidly expanded its distribution. In contrasts, F. gigantica displayed 10 nad1 haplotypes, which showed higher population diversity indices than the haplotypes of aspermic flukes, indicating that the F. gigantica population was clearly distributed in Nepal earlier than the aspermic Fasciola population. Although the F. gigantica haplotypes from Nepal formed a star-like phylogeny consisting of a main founder haplotype (Fg-ND1-N1), together with some F. gigantica haplotypes from Myanmar and Thailand, the Nepal population differed genetically from F. gigantica populations of neighboring countries as each country had distinct founder haplotype(s). Copyright © 2014 Elsevier Inc. All rights reserved.

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype

DOE Office of Scientific and Technical Information (OSTI.GOV)

Weiler, T.; Nylen, E.; Wrogemann, K.

1996-10-01

We report the results of our investigations of a large, inbred, aboriginal Canadian kindred with nine muscular dystrophy patients. The ancestry of all but two of the carrier parents could be traced to a founder couple, seven generations back. Seven patients presented with proximal myopathy consistent with limb girdle-type muscular dystrophy (LGMD), whereas two patients manifested predominantly distal wasting and weakness consistent with Miyoshi myopathy (distal autosomal recessive muscular dystrophy) (MM). Age at onset of symptoms, degree of creatine kinase elevation, and muscle histology were similar in both phenotypes. Segregation of LGMD/MM is consistent with autosomal recessive inheritance, and themore » putative locus is significantly linked (LOD scores >3.0) to six marker loci that span the region of the LGMD2B locus on chromosome 2p. Our initial hypothesis that the affected patients would all be homozygous by descent for microsatellite markers surrounding the disease locus was rejected. Rather, two different core haplotypes, encompassing a 4-cM region spanned by D2S291-D2S145-D2S286, segregated with the disease, indicating that there are two mutant alleles of independent origin in this kindred. There was no association, however, between the two different haplotypes and clinical variability; they do not distinguish between the LGMD and MM phenotypes. Thus, we conclude that LGMD and MM in our population are caused by the same mutation in LGMD2B and that additional factors, both genetic and nongenetic, must contribute to the clinical phenotype. 37 refs., 2 figs., 2 tabs.« less

Congruence as a measurement of extended haplotype structure across the genome

PubMed Central

2012-01-01

Background Historically, extended haplotypes have been defined using only a few data points, such as alleles for several HLA genes in the MHC. High-density SNP data, and the increasing affordability of whole genome SNP typing, creates the opportunity to define higher resolution extended haplotypes. This drives the need for new tools that support quantification and visualization of extended haplotypes as defined by as many as 2000 SNPs. Confronted with high-density SNP data across the major histocompatibility complex (MHC) for 2,300 complete families, compiled by the Type 1 Diabetes Genetics Consortium (T1DGC), we developed software for studying extended haplotypes. Methods The software, called ExHap (Extended Haplotype), uses a similarity measurement we term congruence to identify and quantify long-range allele identity. Using ExHap, we analyzed congruence in both the T1DGC data and family-phased data from the International HapMap Project. Results Congruent chromosomes from the T1DGC data have between 96.5% and 99.9% allele identity over 1,818 SNPs spanning 2.64 megabases of the MHC (HLA-DRB1 to HLA-A). Thirty-three of 132 DQ-DR-B-A defined haplotype groups have > 50% congruent chromosomes in this region. For example, 92% of chromosomes within the DR3-B8-A1 haplotype are congruent from HLA-DRB1 to HLA-A (99.8% allele identity). We also applied ExHap to all 22 autosomes for both CEU and YRI cohorts from the International HapMap Project, identifying multiple candidate extended haplotypes. Conclusions Long-range congruence is not unique to the MHC region. Patterns of allele identity on phased chromosomes provide a simple, straightforward approach to visually and quantitatively inspect complex long-range structural patterns in the genome. Such patterns aid the biologist in appreciating genetic similarities and differences across cohorts, and can lead to hypothesis generation for subsequent studies. PMID:22369243

Association of yield-related traits in founder genotypes and derivatives of common wheat (Triticum aestivum L.).

PubMed

Guo, Jie; Shi, Weiping; Zhang, Zheng; Cheng, Jingye; Sun, Daizhen; Yu, Jin; Li, Xinlei; Guo, Pingyi; Hao, Chenyang

2018-02-20

Yield improvement is an ever-important objective of wheat breeding. Studying and understanding the phenotypes and genotypes of yield-related traits has potential for genetic improvement of crops. The genotypes of 215 wheat cultivars including 11 founder parents and 106 derivatives were analyzed by the 9 K wheat SNP iSelect assay. A total of 4138 polymorphic single nucleotide polymorphism (SNP) loci were detected on 21 chromosomes, of which 3792 were mapped to single chromosome locations. All genotypes were phenotyped for six yield-related traits including plant height (PH), spike length (SL), spikelet number per spike (SNPS), kernel number per spike (KNPS), kernel weight per spike (KWPS), and thousand kernel weight (TKW) in six irrigated environments. Genome-wide association analysis detected 117 significant associations of 76 SNPs on 15 chromosomes with phenotypic explanation rates (R 2 ) ranging from 2.03 to 12.76%. In comparing allelic variation between founder parents and their derivatives (106) and other cultivars (98) using the 76 associated SNPs, we found that the region 116.0-133.2 cM on chromosome 5A in founder parents and derivatives carried alleles positively influencing kernel weight per spike (KWPS), rarely found in other cultivars. The identified favorable alleles could mark important chromosome regions in derivatives that were inherited from founder parents. Our results unravel the genetic of yield in founder genotypes, and provide tools for marker-assisted selection for yield improvement.

MGMT DNA repair gene promoter/enhancer haplotypes alter transcription factor binding and gene expression.

PubMed

Xu, Meixiang; Cross, Courtney E; Speidel, Jordan T; Abdel-Rahman, Sherif Z

2016-10-01

The O 6 -methylguanine-DNA methyltransferase (MGMT) protein removes O 6 -alkyl-guanine adducts from DNA. MGMT expression can thus alter the sensitivity of cells and tissues to environmental and chemotherapeutic alkylating agents. Previously, we defined the haplotype structure encompassing single nucleotide polymorphisms (SNPs) in the MGMT promoter/enhancer (P/E) region and found that haplotypes, rather than individual SNPs, alter MGMT promoter activity. The exact mechanism(s) by which these haplotypes exert their effect on MGMT promoter activity is currently unknown, but we noted that many of the SNPs comprising the MGMT P/E haplotypes are located within or in close proximity to putative transcription factor binding sites. Thus, these haplotypes could potentially affect transcription factor binding and, subsequently, alter MGMT promoter activity. In this study, we test the hypothesis that MGMT P/E haplotypes affect MGMT promoter activity by altering transcription factor (TF) binding to the P/E region. We used a promoter binding TF profiling array and a reporter assay to evaluate the effect of different P/E haplotypes on TF binding and MGMT expression, respectively. Our data revealed a significant difference in TF binding profiles between the different haplotypes evaluated. We identified TFs that consistently showed significant haplotype-dependent binding alterations (p ≤ 0.01) and revealed their role in regulating MGMT expression using siRNAs and a dual-luciferase reporter assay system. The data generated support our hypothesis that promoter haplotypes alter the binding of TFs to the MGMT P/E and, subsequently, affect their regulatory function on MGMT promoter activity and expression level.

Y-STR haplotypes of Native American populations from the Brazilian Amazon region.

PubMed

Palha, Teresinha Jesus Brabo Ferreira; Rodrigues, Elzemar Martins Ribeiro; dos Santos, Sidney Emanuel Batista

2010-10-01

The allele and haplotype frequencies of nine Y-STRs (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385 I/II) were determined in a sample of six native tribes from the Brazilian Amazon (Tiriyó, Awa-Guajá, Waiãpi, Urubu-Kaapor, Zoé and Parakanã). Forty-eight different haplotypes were identified, 28 of which unique. Five haplotypes are very frequent and were shared by over 10 individuals. The estimated haplotype diversity (0.9114) was very low compared to other geographic groups, including Africans, Europeans and Asians. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Appreciative Attitudes toward Jews among Non-Jewish US College Students

ERIC Educational Resources Information Center

Mayhew, Matthew J.; Bowman, Nicholas A.; Rockenbach, Alyssa N.; Selznick, Benjamin; Riggers-Piehll, Tiffani

2018-01-01

The purpose of this study was to examine appreciative attitudes toward Jews--a historically marginalized and targeted worldview identity group in the context of American higher education--among non-Jewish undergraduates. Drawing from a sample of 13,489 students across 52 institutions and using a multilevel modeling approach, we found that…

The Effects of Denomination on Religious Socialization for Jewish Youth

ERIC Educational Resources Information Center

James, Anthony G.; Lester, Ashlie M.; Brooks, Greg

2014-01-01

The transmission model of religious socialization was tested using a sample of American Jewish parents and adolescents. The authors expected that measures of religiousness among parents would be associated with those among their children. Interaction effects of denominational membership were also tested. Data were collected from a sample of 233…

A TNF region haplotype offers protection from typhoid fever in Vietnamese patients

PubMed Central

2009-01-01

The genomic region surrounding the TNF locus on human chromosome 6 has previously been associated with typhoid fever in Vietnam. We used a haplotypic approach to understand this association further. Eighty single nucleotide polymorphisms (SNPs) spanning a 150 kb region were genotyped in 95 Vietnamese individuals (typhoid case/mother/father trios). A subset of data from 33 SNPs with a minor allele frequency of >4.3% was used to construct haplotypes. Fifteen SNPs, which tagged the 42 constructed haplotypes were selected. The haplotype tagging SNPs (T1-T15) were genotyped in 380 confirmed typhoid cases and 380 Vietnamese ethnically matched controls. Allelic frequencies of seven SNPs (T1, T2, T3, T5, T6, T7, T8) were significantly different between typhoid cases and controls. Logistic regression results support the hypothesis that there is just one signal associated with disease at this locus. Haplotype-based analysis of the tag SNPs provided positive evidence of association with typhoid (posterior probability 0.821). The analysis highlighted a low-risk cluster of haplotypes that each carry the minor allele of T1 or T7, but not both, and otherwise carry the combination of alleles *12122*1111 at T1-T11, further supporting the one associated signal hypothesis. Finally, individuals that carry the typhoid fever protective haplotype *12122*1111 also produce a relatively low TNF-α response to LPS. PMID:17503085

Modeling coverage gaps in haplotype frequencies via Bayesian inference to improve stem cell donor selection.

PubMed

Louzoun, Yoram; Alter, Idan; Gragert, Loren; Albrecht, Mark; Maiers, Martin

2018-05-01

Regardless of sampling depth, accurate genotype imputation is limited in regions of high polymorphism which often have a heavy-tailed haplotype frequency distribution. Many rare haplotypes are thus unobserved. Statistical methods to improve imputation by extending reference haplotype distributions using linkage disequilibrium patterns that relate allele and haplotype frequencies have not yet been explored. In the field of unrelated stem cell transplantation, imputation of highly polymorphic human leukocyte antigen (HLA) genes has an important application in identifying the best-matched stem cell donor when searching large registries totaling over 28,000,000 donors worldwide. Despite these large registry sizes, a significant proportion of searched patients present novel HLA haplotypes. Supporting this observation, HLA population genetic models have indicated that many extant HLA haplotypes remain unobserved. The absent haplotypes are a significant cause of error in haplotype matching. We have applied a Bayesian inference methodology for extending haplotype frequency distributions, using a model where new haplotypes are created by recombination of observed alleles. Applications of this joint probability model offer significant improvement in frequency distribution estimates over the best existing alternative methods, as we illustrate using five-locus HLA frequency data from the National Marrow Donor Program registry. Transplant matching algorithms and disease association studies involving phasing and imputation of rare variants may benefit from this statistical inference framework.

Social Inclusion of Children With Down Syndrome: Jewish and Muslim Mothers' Knowledge, Attitudes, Beliefs, and Behavioral Intentions.

PubMed

Barnoy, Sivia; Biton, Anna; Itzhaki, Michal

The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system. A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Analysis included a regression test of intention to integrate children with DS and a one-way ANOVA for differences between Jewish and Muslim mothers. Nearly all the Jewish mothers (93.7%) and about half the Muslim mothers (52.8%) had performed screening tests for DS during their pregnancy. All mothers displayed low knowledge level about DS. Being Jewish (t=2.89; p=0.005) and holding more positive beliefs (t=3.39; p=0.001) were associated with a higher intention to socially integrate children with DS. Significant positive correlations were found between beliefs and attitudes (r=0.65; p<0.001) and between attitudes and intention to socially integrate children with DS (r=0.39; p<0.001). This study shows that Jewish and Muslim mothers' beliefs and attitudes towards social inclusion of children with DS are quite positive and the intention to integrate children with DS in the family, with children without disabilities, and in the mainstream school system is high. However, their level of knowledge about DS is low. Nurses, as a critical source of information about DS, should develop an ethno-cultural sensitivity to diverse populations in order to influence attitudes and beliefs regarding the social integration of children with DS. Copyright © 2017 Elsevier Inc. All rights reserved.

Differences in the Selection Bottleneck between Modes of Sexual Transmission Influence the Genetic Composition of the HIV-1 Founder Virus

PubMed Central

Tully, Damien C.; Ogilvie, Colin B.; Batorsky, Rebecca E.; Bean, David J.; Power, Karen A.; Ghebremichael, Musie; Bedard, Hunter E.; Gladden, Adrianne D.; Seese, Aaron M.; Amero, Molly A.; Lane, Kimberly; McGrath, Graham; Bazner, Suzane B.; Tinsley, Jake; Lennon, Niall J.; Henn, Matthew R.; Brumme, Zabrina L.; Norris, Philip J.; Rosenberg, Eric S.; Mayer, Kenneth H.; Jessen, Heiko; Kosakovsky Pond, Sergei L.; Walker, Bruce D.; Altfeld, Marcus; Carlson, Jonathan M.; Allen, Todd M.

2016-01-01

Due to the stringent population bottleneck that occurs during sexual HIV-1 transmission, systemic infection is typically established by a limited number of founder viruses. Elucidation of the precise forces influencing the selection of founder viruses may reveal key vulnerabilities that could aid in the development of a vaccine or other clinical interventions. Here, we utilize deep sequencing data and apply a genetic distance-based method to investigate whether the mode of sexual transmission shapes the nascent founder viral genome. Analysis of 74 acute and early HIV-1 infected subjects revealed that 83% of men who have sex with men (MSM) exhibit a single founder virus, levels similar to those previously observed in heterosexual (HSX) transmission. In a metadata analysis of a total of 354 subjects, including HSX, MSM and injecting drug users (IDU), we also observed no significant differences in the frequency of single founder virus infections between HSX and MSM transmissions. However, comparison of HIV-1 envelope sequences revealed that HSX founder viruses exhibited a greater number of codon sites under positive selection, as well as stronger transmission indices possibly reflective of higher fitness variants. Moreover, specific genetic “signatures” within MSM and HSX founder viruses were identified, with single polymorphisms within gp41 enriched among HSX viruses while more complex patterns, including clustered polymorphisms surrounding the CD4 binding site, were enriched in MSM viruses. While our findings do not support an influence of the mode of sexual transmission on the number of founder viruses, they do demonstrate that there are marked differences in the selection bottleneck that can significantly shape their genetic composition. This study illustrates the complex dynamics of the transmission bottleneck and reveals that distinct genetic bottleneck processes exist dependent upon the mode of HIV-1 transmission. PMID:27163788

Differences in the Selection Bottleneck between Modes of Sexual Transmission Influence the Genetic Composition of the HIV-1 Founder Virus.

PubMed

Tully, Damien C; Ogilvie, Colin B; Batorsky, Rebecca E; Bean, David J; Power, Karen A; Ghebremichael, Musie; Bedard, Hunter E; Gladden, Adrianne D; Seese, Aaron M; Amero, Molly A; Lane, Kimberly; McGrath, Graham; Bazner, Suzane B; Tinsley, Jake; Lennon, Niall J; Henn, Matthew R; Brumme, Zabrina L; Norris, Philip J; Rosenberg, Eric S; Mayer, Kenneth H; Jessen, Heiko; Kosakovsky Pond, Sergei L; Walker, Bruce D; Altfeld, Marcus; Carlson, Jonathan M; Allen, Todd M

2016-05-01

Due to the stringent population bottleneck that occurs during sexual HIV-1 transmission, systemic infection is typically established by a limited number of founder viruses. Elucidation of the precise forces influencing the selection of founder viruses may reveal key vulnerabilities that could aid in the development of a vaccine or other clinical interventions. Here, we utilize deep sequencing data and apply a genetic distance-based method to investigate whether the mode of sexual transmission shapes the nascent founder viral genome. Analysis of 74 acute and early HIV-1 infected subjects revealed that 83% of men who have sex with men (MSM) exhibit a single founder virus, levels similar to those previously observed in heterosexual (HSX) transmission. In a metadata analysis of a total of 354 subjects, including HSX, MSM and injecting drug users (IDU), we also observed no significant differences in the frequency of single founder virus infections between HSX and MSM transmissions. However, comparison of HIV-1 envelope sequences revealed that HSX founder viruses exhibited a greater number of codon sites under positive selection, as well as stronger transmission indices possibly reflective of higher fitness variants. Moreover, specific genetic "signatures" within MSM and HSX founder viruses were identified, with single polymorphisms within gp41 enriched among HSX viruses while more complex patterns, including clustered polymorphisms surrounding the CD4 binding site, were enriched in MSM viruses. While our findings do not support an influence of the mode of sexual transmission on the number of founder viruses, they do demonstrate that there are marked differences in the selection bottleneck that can significantly shape their genetic composition. This study illustrates the complex dynamics of the transmission bottleneck and reveals that distinct genetic bottleneck processes exist dependent upon the mode of HIV-1 transmission.

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.

PubMed

Hu, Liyan; Diez-Fernandez, Carmen; Rüfenacht, Véronique; Hismi, Burcu Öztürk; Ünal, Özlem; Soyucen, Erdogan; Çoker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Pérez-Tur, Jordi; Rubio, Vicente; Häberle, Johannes

2014-12-01

Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment. CPS1 catalyzes carbamoyl phosphate formation from ammonia, bicarbonate and two molecules of ATP, and requires the allosteric activator N-acetyl-L-glutamate. Clinical mutations occur in the entire CPS1 coding region, but mainly in single families, with little recurrence. We characterized here the only currently known recurrent CPS1 mutation, p.Val1013del, found in eleven unrelated patients of Turkish descent using recombinant His-tagged wild type or mutant CPS1 expressed in baculovirus/insect cell system. The global CPS1 reaction and the ATPase and ATP synthesis partial reactions that reflect, respectively, the bicarbonate and the carbamate phosphorylation steps, were assayed. We found that CPS1 wild type and V1013del mutant showed comparable expression levels and purity but the mutant CPS1 exhibited no significant residual activities. In the CPS1 structural model, V1013 belongs to a highly hydrophobic β-strand at the middle of the central β-sheet of the A subdomain of the carbamate phosphorylation domain and is close to the predicted carbamate tunnel that links both phosphorylation sites. Haplotype studies suggested that p.Val1013del is a founder mutation. In conclusion, the mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble. Recurrence of this particular mutation in Turkish patients is likely due to a founder effect, which is consistent with the frequent consanguinity observed in the affected population. Copyright © 2014 Elsevier Inc. All rights reserved.

A Genome-Wide Scan for Breast Cancer Risk Haplotypes among African American Women

PubMed Central

Song, Chi; Chen, Gary K.; Millikan, Robert C.; Ambrosone, Christine B.; John, Esther M.; Bernstein, Leslie; Zheng, Wei; Hu, Jennifer J.; Ziegler, Regina G.; Nyante, Sarah; Bandera, Elisa V.; Ingles, Sue A.; Press, Michael F.; Deming, Sandra L.; Rodriguez-Gil, Jorge L.; Chanock, Stephen J.; Wan, Peggy; Sheng, Xin; Pooler, Loreall C.; Van Den Berg, David J.; Le Marchand, Loic; Kolonel, Laurence N.; Henderson, Brian E.; Haiman, Chris A.; Stram, Daniel O.

2013-01-01

Genome-wide association studies (GWAS) simultaneously investigating hundreds of thousands of single nucleotide polymorphisms (SNP) have become a powerful tool in the investigation of new disease susceptibility loci. Haplotypes are sometimes thought to be superior to SNPs and are promising in genetic association analyses. The application of genome-wide haplotype analysis, however, is hindered by the complexity of haplotypes themselves and sophistication in computation. We systematically analyzed the haplotype effects for breast cancer risk among 5,761 African American women (3,016 cases and 2,745 controls) using a sliding window approach on the genome-wide scale. Three regions on chromosomes 1, 4 and 18 exhibited moderate haplotype effects. Furthermore, among 21 breast cancer susceptibility loci previously established in European populations, 10p15 and 14q24 are likely to harbor novel haplotype effects. We also proposed a heuristic of determining the significance level and the effective number of independent tests by the permutation analysis on chromosome 22 data. It suggests that the effective number was approximately half of the total (7,794 out of 15,645), thus the half number could serve as a quick reference to evaluating genome-wide significance if a similar sliding window approach of haplotype analysis is adopted in similar populations using similar genotype density. PMID:23468962

The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

PubMed

Anelli, Luisa; Zagaria, Antonella; Specchia, Giorgina; Albano, Francesco

2018-04-11

The germline JAK2 haplotype known as "GGCC or 46/1 haplotype" (haplotype GGCC_46/1 ) consists of a combination of single nucleotide polymorphisms (SNPs) mapping in a region of about 250 kb, extending from the JAK2 intron 10 to the Insulin-like 4 ( INLS4 ) gene. Four main SNPs (rs3780367, rs10974944, rs12343867, and rs1159782) generating a "GGCC" combination are more frequently indicated to represent the JAK2 haplotype. These SNPs are inherited together and are frequently associated with the onset of myeloproliferative neoplasms (MPN) positive for both JAK2 V617 and exon 12 mutations. The association between the JAK2 haplotype GGCC_46/1 and mutations in other genes, such as thrombopoietin receptor ( MPL ) and calreticulin ( CALR ), or the association with triple negative MPN, is still controversial. This review provides an overview of the frequency and the role of the JAK2 haplotype GGCC_46/1 in the pathogenesis of different myeloid neoplasms and describes the hypothetical mechanisms at the basis of the association with JAK2 gene mutations. Moreover, possible clinical implications are discussed, as different papers reported contrasting data about the correlation between the JAK2 haplotype GGCC_46/1 and blood cell count, survival, or disease progression.

HLA-A*02 allele frequencies and haplotypic associations in Koreans.

PubMed

Park, M H; Whang, D H; Kang, S J; Han, K S

2000-03-01

We have investigated the frequencies of HLA-A*02 alleles and their haplotypic associations with HLA-B and -DRB1 loci in 439 healthy unrelated Koreans, including 214 parents from 107 families. All of the 227 samples (51.7%) typed as A2 by serology were analyzed for A*02 alleles using polymerase chain reaction (PCR)-low ionic strength-single-strand conformation polymorphism (LIS-SSCP) method. A total of six different A*02 alleles were detected (A*02 allele frequency 29.6%): A*0201/9 (16.6%), *0203 (0.5%), *0206 (9.3%), *0207 (3.0%), and one each case of *0210 and *02 undetermined type. Two characteristic haplotypes showing the strongest linkage disequilibrium were A*0203-B38-DRB]*1502 and A*0207-B46-DRB1*0803. Besides these strong associations, significant two-locus associations (P<0.001) were observed for A*0201 with B61, DRB1*0901 and DRB1*1401, and for A*0206 with B48 and B61. HLA haplotypes carrying HLA-A2 showed a variable distribution of A*02 alleles, and all of the eight most common A2-B-DR haplotypes occurring at frequencies of > or =1% were variably associated with two different A*02 alleles. These results demonstrate that substantial heterogeneity is present in the distribution of HLA-A*02 alleles and related haplotypes in Koreans.

Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

PubMed

Long, Ji-Rong; Zhao, Lan-Juan; Liu, Peng-Yuan; Lu, Yan; Dvornyk, Volodymyr; Shen, Hui; Liu, Yong-Jun; Zhang, Yuan-Yuan; Xiong, Dong-Hai; Xiao, Peng; Deng, Hong-Wen

2004-05-24

The adequacy of association studies for complex diseases depends critically on the existence of linkage disequilibrium (LD) between functional alleles and surrounding SNP markers. We examined the patterns of LD and haplotype distribution in eight candidate genes for osteoporosis and/or obesity using 31 SNPs in 1,873 subjects. These eight genes are apolipoprotein E (APOE), type I collagen alpha1 (COL1A1), estrogen receptor-alpha (ER-alpha), leptin receptor (LEPR), parathyroid hormone (PTH)/PTH-related peptide receptor type 1 (PTHR1), transforming growth factor-beta1 (TGF-beta1), uncoupling protein 3 (UCP3), and vitamin D (1,25-dihydroxyvitamin D3) receptor (VDR). Yin yang haplotypes, two high-frequency haplotypes composed of completely mismatching SNP alleles, were examined. To quantify LD patterns, two common measures of LD, D' and r2, were calculated for the SNPs within the genes. The haplotype distribution varied in the different genes. Yin yang haplotypes were observed only in PTHR1 and UCP3. D' ranged from 0.020 to 1.000 with the average of 0.475, whereas the average r2 was 0.158 (ranging from 0.000 to 0.883). A decay of LD was observed as the intermarker distance increased, however, there was a great difference in LD characteristics of different genes or even in different regions within gene. The differences in haplotype distributions and LD patterns among the genes underscore the importance of characterizing genomic regions of interest prior to association studies.

Identity and Inter Religious Understanding in Jewish Schools in England

ERIC Educational Resources Information Center

Ipgrave, Julia

2016-01-01

This article sets up a dialogue between "auto"-referential (looking to self) and "allo"-referential (looking to the other) approaches to religious difference and applies these to education for inter religious understanding in Jewish schools. It begins by arguing that the multiculturalism of the 1980s and 1990s set up a duality…

Patriotism and Parochialism: Why Teach American Jewish History, and How?

ERIC Educational Resources Information Center

Levisohn, Jon A.

2004-01-01

In this article, the author focuses on these questions: why is American Jewish history worthy of being "taught"? And what purpose should such teaching serve? Philosophical questions such as these are important because topics of study are not self-justifying, and asking the questions--questions that must be pursued through conceptual inquiry,…

Clinical applications and implications of common and founder mutations in Indian subpopulations.

PubMed

Ankala, Arunkanth; Tamhankar, Parag M; Valencia, C Alexander; Rayam, Krishna K; Kumar, Manisha M; Hegde, Madhuri R

2015-01-01

South Asian Indians represent a sixth of the world's population and are a racially, geographically, and genetically diverse people. Their unique anthropological structure, prevailing caste system, and ancient religious practices have all impacted the genetic composition of most of the current-day Indian population. With the evolving socio-religious and economic activities of the subsects and castes, endogamous and consanguineous marriages became a commonplace. Consequently, the frequency of founder mutations and the burden of heritable genetic disorders rose significantly. Specifically, the incidence of certain autosomal-recessive disorders is relatively high in select Indian subpopulations and communities that share common recent ancestry. Although today clinical genetics and molecular diagnostic services are making inroads in India, the high costs associated with the technology and the tests often keep patients from an exact molecular diagnosis, making more customized and tailored tests, such as those interrogating the most common and founder mutations or those that cater to select sects within the population, highly attractive. These tests offer a quick first-hand affordable diagnostic and carrier screening tool. Here, we provide a comprehensive catalog of known common mutations and founder mutations in the Indian population and discuss them from a molecular, clinical, and historical perspective. © 2014 WILEY PERIODICALS, INC.

Delinquent activity among Jewish and Arab junior and senior high school students in Israel.

PubMed

Sherer, Moshe

2009-10-01

This study compares the criminal activities of male and female Jewish and Arab junior and senior high school students in Israel based on self-reported criminal activities. The sample consisted of 906 randomly selected junior and senior high school students. The findings indicate that Jewish students committed more types of delinquent acts when compared with their Arab counterparts; males committed more delinquent acts than females; and Arab females had very low rates of delinquency. The findings are discussed in light of possible influences of cultural and ethnic origin and knowledge about possible discrimination against Arab juveniles by the Israeli criminal justice system. Theoretical and practical implications of the results are suggested.

VNTR alleles associated with the {alpha}-globin locus are haplotype and population related

DOE Office of Scientific and Technical Information (OSTI.GOV)

Martinson, J.J.; Clegg, J.B.; Boyce, A.J.

1994-09-01

The human {alpha}-globin complex contains several polymorphic restriction-enzyme sites (i.e., RFLPs) linked to form haplotypes and is flanked by two hypervariable VNTR loci, the 5{prime} hypervariable region (HVR) and the more highly polymorphic 3{prime}HVR. Using a combination of RFLP analysis and PCR, the authors have characterized the 5{prime}HVR and 3{prime}HVR alleles associated with the {alpha}-globin haplotypes of 133 chromosomes, and they here show that specific {alpha}-globin haplotypes are each associated with discrete subsets of the alleles observed at these two VNTR loci. This statistically highly significant association is observed over a region spanning {approximately} 100 kb. With the exception ofmore » closely related haplotypes, different haplotypes do not share identically sized 3{prime}HVR alleles. Earlier studies have shown that {alpha}-globin haplotype distributions differ between populations; the current findings also reveal extensive population substructure in the repertoire of {alpha}-globin VNTRs. If similar features are characteristic of other VNTR loci, this will have important implications for forensic and anthropological studies. 42 refs., 5 figs., 5 tabs.« less

Subspecies composition and founder contribution of the captive U.S. chimpanzee (Pan troglodytes) population.

PubMed

Ely, John J; Dye, Brent; Frels, William I; Fritz, Jo; Gagneux, Pascal; Khun, Henry H; Switzer, William M; Lee, D Rick

2005-10-01

Chimpanzees are presently classified into three subspecies: Pan troglodytes verus from west Africa, P.t. troglodytes from central Africa, and P.t. schweinfurthii from east Africa. A fourth subspecies (P.t. vellerosus), from Cameroon and northern Nigeria, has been proposed. These taxonomic designations are based on geographical origins and are reflected in sequence variation in the first hypervariable region (HVR-I) of the mtDNA D-loop. Although advances have been made in our understanding of chimpanzee phylogenetics, little has been known regarding the subspecies composition of captive chimpanzees. We sequenced part of the mtDNA HVR-I region in 218 African-born population founders and performed a phylogenetic analysis with previously characterized African sequences of known provenance to infer subspecies affiliations. Most founders were P.t. verus (95.0%), distantly followed by the troglodytes schweinfurthii clade (4.6%), and a single P.t. vellerosus (0.4%). Pedigree-based estimates of genomic representation in the descendant population revealed that troglodytes schweinfurthii founder representation was reduced in captivity, vellerosus representation increased due to prolific breeding by a single male, and reproductive variance resulted in uneven representation among male P.t.verus founders. No increase in mortality was evident from between-subspecies interbreeding, indicating a lack of outbreeding depression. Knowledge of subspecies and their genomic representation can form the basis for phylogenetically informed genetic management of extant chimpanzees to preserve rare genetic variation for research, conservation, or possible future breeding. Copyright 2005 Wiley-Liss, Inc.

The historical archaeology of the 17th- and 18th-century Jewish community of Nevis, British West Indies

NASA Astrophysics Data System (ADS)

Terrell, Michelle M.

2000-11-01

This is an historical archaeological examination of a 17th- and 18th-century Jewish community on the island of Nevis in the British West Indies. Unlike earlier archaeological studies of the Jewish Caribbean Diaspora that focused on single sites, this investigation used a community-wide approach to elucidate the daily experience of Sephardic Jews within the colonial Caribbean. This project included an archaeological excavation at the purported location of the community's synagogue, an electrical resistivity survey of the surviving cemetery, the construction of a map of property ownership in 18th-century Charlestown, and archival research. This study was carded out within a multiscalar and contextual framework that emphasized the importance of understanding the diaspora that brought the Jews to the West Indies, the development of the colonial Caribbean, and the surrounding environs of the port city of Charlestown, Nevis. The archaeological analysis of the supposed site of the synagogue proved that it was in fact that of a late 18th-century townhouse, but the associated land record research revealed the actual location of the community's former synagogue. Furthermore, the reconstruction of the physical layout of colonial-period Charlestown from the land records indicated the presence of a distinct Jewish quarter in the undesirable southern portion of the town. Evidence from the public records of Nevis and the social history of the members of the Jewish population unveiled external social and political pressures placed upon the Sephardim as well as internal religious and ethnic ties dig bound the community together. It is argued in closing that the archival evidence, in conjunction with the continued presence of a clustered settlement pattern like that of European Jewish communities during the medieval period, indicates that the Jews of the Caribbean were not fully integrated socially or politically into British colonial society. This examination of the Nevis community

A powerful approach reveals numerous expression quantitative trait haplotypes in multiple tissues.

PubMed

Ying, Dingge; Li, Mulin Jun; Sham, Pak Chung; Li, Miaoxin

2018-04-26

Recently many studies showed single nucleotide polymorphisms (SNPs) affect gene expression and contribute to development of complex traits/diseases in a tissue context-dependent manner. However, little is known about haplotype's influence on gene expression and complex traits, which reflects the interaction effect between SNPs. In the present study, we firstly proposed a regulatory region guided eQTL haplotype association analysis approach, and then systematically investigate the expression quantitative trait loci (eQTL) haplotypes in 20 different tissues by the approach. The approach has a powerful design of reducing computational burden by the utilization of regulatory predictions for candidate SNP selection and multiple testing corrections on non-independent haplotypes. The application results in multiple tissues showed that haplotype-based eQTLs not only increased the number of eQTL genes in a tissue specific manner, but were also enriched in loci that associated with complex traits in a tissue-matched manner. In addition, we found that tag SNPs of eQTL haplotypes from whole blood were selectively enriched in certain combination of regulatory elements (e.g. promoters and enhancers) according to predicted chromatin states. In summary, this eQTL haplotype detection approach, together with the application results, shed insights into synergistic effect of sequence variants on gene expression and their susceptibility to complex diseases. The executable application "eHaplo" is implemented in Java and is publicly available at http://grass.cgs.hku.hk/limx/ehaplo/. jonsonfox@gmail.com, limiaoxin@mail.sysu.edu.cn. Supplementary data are available at Bioinformatics online.

The Origins of Jewish Guilt: Psychological, Theological, and Cultural Perspectives

PubMed Central

2013-01-01

The idea that guilt and Judaism are closely interlinked has a long historical legacy. After discussing recent work on anthropology and emotion focusing on shame and guilt, we examine three theories purporting to account for this link: psychoanalytic, theological, and guilt as a cultural stereotype particularly the notion of the Jewish mother. PMID:26425245

Multiple Identities of Jewish Immigrant Adolescents from the Former Soviet Union: An Exploration of Salience and Impact of Ethnic Identity

ERIC Educational Resources Information Center

Birman, Dina; Persky, Irena; Chan, Wing Yi

2010-01-01

The current paper explores the salience and impact of ethnic and national identities for immigrants that are negotiating more than two cultures. Specifically, we were interested in the ways in which Jewish immigrant adolescents from the former Soviet Union integrate their Russian, Jewish, and American identities, and to what extent identification…

Haplotype-based approach to known MS-associated regions increases the amount of explained risk

PubMed Central

Khankhanian, Pouya; Gourraud, Pierre-Antoine; Lizee, Antoine; Goodin, Douglas S

2015-01-01

Genome-wide association studies (GWAS), using single nucleotide polymorphisms (SNPs), have yielded 110 non-human leucocyte antigen genomic regions that are associated with multiple sclerosis (MS). Despite this large number of associations, however, only 28% of MS-heritability can currently be explained. Here we compare the use of multi-SNP-haplotypes to the use of single-SNPs as alternative methods to describe MS genetic risk. SNP-haplotypes (of various lengths from 1 up to 15 contiguous SNPs) were constructed at each of the 110 previously identified, MS-associated, genomic regions. Even after correcting for the larger number of statistical comparisons made when using the haplotype-method, in 32 of the regions, the SNP-haplotype based model was markedly more significant than the single-SNP based model. By contrast, in no region was the single-SNP based model similarly more significant than the SNP-haplotype based model. Moreover, when we included the 932 MS-associated SNP-haplotypes (that we identified from 102 regions) as independent variables into a logistic linear model, the amount of MS-heritability, as assessed by Nagelkerke's R-squared, was 38%, which was considerably better than 29%, which was obtained by using only single-SNPs. This study demonstrates that SNP-haplotypes can be used to fine-map the genetic associations within regions of interest previously identified by single-SNP GWAS. Moreover, the amount of the MS genetic risk explained by the SNP-haplotype associations in the 110 MS-associated genomic regions was considerably greater when using SNP-haplotypes than when using single-SNPs. Also, the use of SNP-haplotypes can lead to the discovery of new regions of interest, which have not been identified by a single-SNP GWAS. PMID:26185143

Mapping of HLA- DQ haplotypes in a group of Danish patients with celiac disease.

PubMed

Lund, Flemming; Hermansen, Mette N; Pedersen, Merete F; Hillig, Thore; Toft-Hansen, Henrik; Sölétormos, György

2015-10-01

A cost-effective identification of HLA- DQ risk haplotypes using the single nucleotide polymorphism (SNP) technique has recently been applied in the diagnosis of celiac disease (CD) in four European populations. The objective of the study was to map risk HLA- DQ haplotypes in a group of Danish CD patients using the SNP technique. Cohort A: Among 65 patients with gastrointestinal symptoms we compared the HLA- DQ2 and HLA- DQ8 risk haplotypes obtained by the SNP technique (method 1) with results based on a sequence specific primer amplification technique (method 2) and a technique used in an assay from BioDiagene (method 3). Cohort B: 128 patients with histologically verified CD were tested for CD risk haplotypes (method 1). Patients with negative results were further tested for sub-haplotypes of HLA- DQ2 (methods 2 and 3). Cohort A: The three applied methods provided the same HLA- DQ2 and HLA- DQ8 results among 61 patients. Four patients were negative for the HLA- DQ2 and HLA- DQ8 haplotypes (method 1) but were positive for the HLA- DQ2.5-trans and HLA- DQ2.2 haplotypes (methods 2 and 3). Cohort B: A total of 120 patients were positive for the HLA- DQ2.5-cis and HLA- DQ8 haplotypes (method 1). The remaining seven patients were positive for HLA- DQ2.5-trans or HLA- DQ2.2 haplotypes (methods 2 and 3). One patient was negative with all three HLA methods. The HLA- DQ risk haplotypes were detected in 93.8% of the CD patients using the SNP technique (method 1). The sensitivity increased to 99.2% by combining methods 1 - 3.

Clinical characteristics of an Afrikaner founder population recruited for a schizophrenia genetic study.

PubMed

Roos, Johannes Lodewikus; Pretorius, Herman Walter; Karayiorgou, Maria

2009-01-01

The clinical characteristics of an Afrikaner founder population sample recruited for a schizophrenia genetic study are described. Comparisons on several clinical characteristics between this sample and a U.S. sample of schizophrenia patients show that generalization of findings in a founder population to the population at large is applicable. The assessment of the frequency of the 22q11 deletion in Afrikaner schizophrenia patients is approximately 2%, similar to findings in a U.S. sample. Results of analysis of early non-psychotic deviant behavior in subjects under the age of 10 years in the Afrikaner population broadly replicated findings in a U.S. sample. Approximately half of male schizophrenia patients and a quarter of female patients in the Afrikaner schizophrenia database used or abused cannabis. Male users of cannabis with severe early deviant behavior had the lowest mean age of criteria onset, namely 18.4 years. These findings confirm previous findings, indicating that early deviance is linked to later outcome of disease. The clinical characteristics and premorbid variables in 12 childhood-onset Afrikaner schizophrenia patients thus far recruited in this study compare favorably with what is known about childhood-onset schizophrenia in a U.S. sample. The prevalence of co-morbid OCD/OCS in this Afrikaner schizophrenia founder sample was 13.2% which is in keeping with that of co-morbid OCD in schizophrenia, estimated at 12.2% by the U.S. National Institute of Mental Health. These findings confirm that the clinical characteristics of a schizophrenia sample drawn from the Afrikaner founder population can be generalized to the schizophrenia population at large when compared to findings reported in the literature.

Assessing transmission of ‘Candidatus Liberibacter solanacearum’ haplotypes through seed potato

USDA-ARS?s Scientific Manuscript database

Conflicting data has previously been reported concerning the impact of zebra chip disease transmission through seed tubers. These discrepancies may be due to the experimental design of each study, whereby different pathogen haplotypes, insect vector haplotypes, and potato plant varieties were used....

COMT haplotypes, catecholamine metabolites in plasma and clinical response in schizophrenic and bipolar patients.

PubMed

Zumárraga, Mercedes; Arrúe, Aurora; Basterreche, Nieves; Macías, Isabel; Catalán, Ana; Madrazo, Arantza; Bustamante, Sonia; Zamalloa, María I; Erkoreka, Leire; Gordo, Estibaliz; Arnaiz, Ainara; Olivas, Olga; Arroita, Ariane; Marín, Elena; González-Torres, Miguel A

2016-06-01

We examined the association of COMT haplotypes and plasma metabolites of catecholamines in relation to the clinical response to antipsychotics in schizophrenic and bipolar patients. We studied 165 patients before and after four weeks of treatment, and 163 healthy controls. We assessed four COMT haplotypes and the plasma concentrations of HVA, DOPAC and MHPG. Bipolar patients: haplotypes are associated with age at onset and clinical evolution. In schizophrenic patients, an haplotype previously associated with increased risk, is related to better response of negative symptoms. Haplotypes would be good indicators of the clinical status and the treatment response in bipolar and schizophrenic patients. Larger studies are required to elucidate the clinical usefulness of these findings.

Two families from New England with usher syndrome type IC with distinct haplotypes.

PubMed

DeAngelis, M M; McGee, T L; Keats, B J; Slim, R; Berson, E L; Dryja, T P

2001-03-01

To search for patients with Usher syndrome type IC among those with Usher syndrome type I who reside in New England. Genotype analysis of microsatellite markers closely linked to the USH1C locus was done using the polymerase chain reaction. We compared the haplotype of our patients who were homozygous in the USH1C region with the haplotypes found in previously reported USH1C Acadian families who reside in southwestern Louisiana and from a single family residing in Lebanon. Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region. Of these, one carried the Acadian USH1C haplotype and had Acadian ancestors (that is, from Nova Scotia) who did not participate in the 1755 migration of Acadians to Louisiana. The second family had a haplotype that proved to be the same as that of a family with USH1C residing in Lebanon. Each of the two families had haplotypes distinct from the other. This is the first report that some patients residing in New England have Usher syndrome type IC. Patients with Usher syndrome type IC can have the Acadian haplotype or the Lebanese haplotype compatible with the idea that at least two independently arising pathogenic mutations have occurred in the yet-to-be identified USH1C gene.

Research and Reflections on the Spiritual Development of Young Jewish Children

ERIC Educational Resources Information Center

Schein, Deborah L.

2013-01-01

This article is about spiritual development for early childhood Jewish education. Findings from a research study defines the spiritual development of young children as an integration of deep connections, basic dispositions (strengthened from experiences of wonderment, awe, joy, inner peace), and complex dispositions (displayed through acts of…

Seeing Diversity in Difference: Experiences in an Ultra-Orthodox Jewish College.

ERIC Educational Resources Information Center

Starr-Glass, David; Schwartzbaum, Avraham

2002-01-01

Reviews organizational and administrative history of Ultra-Orthodox Jewish College in Jerusalem, Israel, that leads to an institutional structure that supports distinctiveness. Examines influence of ultra-Orthodox communities in Jerusalem on the academic quality and distinctiveness of the college. Uses perspective of social construct theory to…

Networked but No System: Educational Innovation among Bay Area Jewish Organizations

ERIC Educational Resources Information Center

Rubin Ross, Renee

2017-01-01

A widely read article from this journal explores innovative Jewish educational programs, initiatives, and organizations, arguing that these share a comdmitment to being "learner-centered" and recommending that a system be created to foster collaboration among them (Woocher, 2012). Using five San Francisco Bay Area-based…

Gender identity, nationalism, and social action among Jewish and Arab women in Israel: redefining the social order?

PubMed

Moore, D

2000-01-01

In the study this article explores, the meaning of gender identity for religious and secular Jewish and Arab women in Israeli society is examined. The study focuses on how Israeli women, rank gender identity, relative to other identities like being Jewish/Arab, being Israeli/Palestinian, religious or secular, of a certain ethnic group, and political identity. It examines the characteristics of gender identity and the attitudes that are associated with it. The analysis shows that the hierarchies of identities are different for religious and secular Jewish and Arab women, and that this is related to having different sociopolitical attitudes (e.g., Women's social and political involvement, social obedience, social influence). Thus, the hierarchy of identities and the sociopolitical attitudes of religious women indicate a more consensual acceptance of the social order than the hierarchy of identities and the sociopolitical attitudes of secular women, especially among Arab women.

Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents.

PubMed

Habara, Alawi H; Shaikho, Elmutaz M; Steinberg, Martin H

2017-11-01

Fetal hemoglobin (HbF) has well-known tempering effects on the symptoms of sickle cell disease and its levels vary among patients with different haplotypes of the sickle hemoglobin gene. Compared with sickle cell anemia haplotypes found in patients of African descent, HbF levels in Saudi and Indian patients with the Arab-Indian (AI) haplotype exceed that in any other haplotype by nearly twofold. Genetic association studies have identified some loci associated with high HbF in the AI haplotype but these observations require functional confirmation. Saudi patients with the Benin haplotype have HbF levels almost twice as high as African patients with this haplotype but this difference is unexplained. Hydroxyurea is still the only FDA approved drug for HbF induction in sickle cell disease. While most patients treated with hydroxyurea have an increase in HbF and some clinical improvement, 10 to 20% of adults show little response to this agent. We review the genetic basis of HbF regulation focusing on sickle cell anemia in Saudi Arabia and discuss new drugs that can induce increased levels of HbF. © 2017 Wiley Periodicals, Inc.