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Sample records for genetic studies qatar

  1. Qatar.

    PubMed

    1992-04-01

    Qatar is a country of 11,437 sq. km with 400,000 inhabitants, of whom 65% are literate. Independence was gained on September 3, 1971. The terrain consists of flat, barren desert, with a hot and dry climate. Arabic and English are spoken by Arab, South Asian, and Iranian ethnic groups who are largely of the Islamic faith. Life expectancy is 58 years. The gross domestic product is $5.2 billion, growing at a rate of 4%. Per capita income is $13,000. The country's natural resources include petroleum, natural gas, and fish. Oil production, refining, natural gas development, fishing, cement, power/desalinization plants, petrochemicals, steel, and fertilizers are areas of economic production. Industrial and consumer goods are imported and oil is exported. In-depth information is also given on the people and history, government and principal officials, political conditions, the economy, defense, foreign relations, relations with the US, and names of principal US officials in the country.

  2. Qatar.

    PubMed

    1992-04-01

    Qatar is a country of 11,437 sq. km with 400,000 inhabitants, of whom 65% are literate. Independence was gained on September 3, 1971. The terrain consists of flat, barren desert, with a hot and dry climate. Arabic and English are spoken by Arab, South Asian, and Iranian ethnic groups who are largely of the Islamic faith. Life expectancy is 58 years. The gross domestic product is $5.2 billion, growing at a rate of 4%. Per capita income is $13,000. The country's natural resources include petroleum, natural gas, and fish. Oil production, refining, natural gas development, fishing, cement, power/desalinization plants, petrochemicals, steel, and fertilizers are areas of economic production. Industrial and consumer goods are imported and oil is exported. In-depth information is also given on the people and history, government and principal officials, political conditions, the economy, defense, foreign relations, relations with the US, and names of principal US officials in the country. PMID:12178044

  3. Arranging marriage; negotiating risk: genetics and society in Qatar.

    PubMed

    Kilshaw, Susie; Al Raisi, Tasneem; Alshaban, Fouad

    2015-01-01

    This paper considers how the globalized discourse of genetic risk in cousin marriage is shaped, informed and taken up in local moral worlds within the context of Qatar. This paper investigates the way Qataris are negotiating the discourse on genetics and risk. It is based on data from ongoing ethnographic research in Qatar and contributes to anthropological knowledge about this understudied country. Participants were ambivalent about genetic risks and often pointed to other theories of causation in relation to illness and disability. The discourse on genetic risk associated with marrying in the family was familiar, but for some participants the benefits of close marriage outweighed potential risks. Furthermore, the introduction of mandatory pre-marital screening gave participants confidence that risks were monitored and minimized.

  4. Population genetic structure of the people of Qatar.

    PubMed

    Hunter-Zinck, Haley; Musharoff, Shaila; Salit, Jacqueline; Al-Ali, Khalid A; Chouchane, Lotfi; Gohar, Abeer; Matthews, Rebecca; Butler, Marcus W; Fuller, Jennifer; Hackett, Neil R; Crystal, Ronald G; Clark, Andrew G

    2010-07-01

    People of the Qatar peninsula represent a relatively recent founding by a small number of families from three tribes of the Arabian Peninsula, Persia, and Oman, with indications of African admixture. To assess the roles of both this founding effect and the customary first-cousin marriages among the ancestral Islamic populations in Qatar's population genetic structure, we obtained and genotyped with Affymetrix 500k SNP arrays DNA samples from 168 self-reported Qatari nationals sampled from Doha, Qatar. Principal components analysis was performed along with samples from the Human Genetic Diversity Project data set, revealing three clear clusters of genotypes whose proximity to other human population samples is consistent with Arabian origin, a more eastern or Persian origin, and individuals with African admixture. The extent of linkage disequilibrium (LD) is greater than that of African populations, and runs of homozygosity in some individuals reflect substantial consanguinity. However, the variance in runs of homozygosity is exceptionally high, and the degree of identity-by-descent sharing generally appears to be lower than expected for a population in which nearly half of marriages are between first cousins. Despite the fact that the SNPs of the Affymetrix 500k chip were ascertained with a bias toward SNPs common in Europeans, the data strongly support the notion that the Qatari population could provide a valuable resource for the mapping of genes associated with complex disorders and that tests of pairwise interactions are particularly empowered by populations with elevated LD like the Qatari.

  5. Studies on mosquito borne dieases in Egypt and Qatar.

    PubMed

    Mikhail, Micheal W; Al-Bursheed, Khalifa M; Abd El-Halim, Azza S; Morsy, Tosson A

    2009-12-01

    Mosquitoes identification, distribution and densities in representative Egyptian Governorates and five Qatarain Municipalities (Al Rayyan, Doha, Al Daayan, Al Khor & Al Zahakira and Al Shamal) were studied. In Qatar the larvae were Culex pipiens complex, C. univettatus, C. pusillus, Aedes caspies, Anopheles multicolor and A. stephensi. C. pipiens and C. univettatus were mainly in Al Rayyan, Doha, and Al Khor & Al Zahakira. C. pusillus was in Doha and Al Daayan while A. caspies was in Al Daayan and Al Shamal. Anopheles multicolor and A. stephensi were mainly in Al Shamal with low density in Al Rayyan (only in Ain-Khalid locution). The Egyptian mosquitoes were C. pipiens, C. antennatus, C. thelerei, C. univittatus, C. perexiguus, C. poicilipes, C. pusillus, Aedes caspius, Ae. detritus, A. sergentii, A. pharoensis, A. multicolor, A. detali, A. algeriensis, A. tenebrosus, A. gambiae (formerly), A. superpictus, A. tarkhadi, A. hispaniola, A. rhodesiensis, A. stephensi, A. coustani and Culiseta longiareolata. As an example in Sharkia Governorate, larvae were C. pipiens (68.77%), Ae. caspius (15.75%), Culiseta sp. (=Theobaldia) and C. pusillus. In Greater Cairo, parts of Qualyoubia G., C. pipiens was the most dominant and the least was C. perexiguus. In parts of Giza G., C. pipiens was the most dominant and least was Cs. longiareolata. In Cairo G., C. pipiens was the most dominant and least was Ae. caspius. The overall in Greater Cairo was C. pipiens (61.74%), Cs. longiareolata (15.56%), Ae. caspius (15.3%), C. pusillus (4.0%) and C. perexiguus (3.16%).

  6. A Classroom Observational Study of Qatar's Independent Schools: Instruction and School Reform

    ERIC Educational Resources Information Center

    Palmer, Douglas J.; Sadiq, Hissa M.; Lynch, Patricia; Parker, Dawn; Viruru, Radhika; Knight, Stephanie; Waxman, Hersh; Alford, Beverly; Brown, Danielle Bairrington; Rollins, Kayla; Stillisano, Jacqueline; Abu-Tineh, Abdullah M. Hamdan; Nasser, Ramzi; Allen, Nancy; Al-Binali, Hessa; Ellili, Maha; Al-Kateeb, Haithem; Al-Kubaisi, Huda

    2016-01-01

    Qatar initiated a K-12 national educational reform in 2001. However, there is limited information on the instructional practices of the teachers in the reform schools. This project was an observational study of classrooms with a stratified random sample of the first six cohorts of reform schools. Specifically, 156 classrooms were observed in 29…

  7. Trends and characteristics of injuries in the State of Qatar: hospital-based study.

    PubMed

    Bener, Abdulbari; Abdul Rahman, Yassir S; Abdel Aleem, Eltayib Y; Khalid, Muayad K

    2012-01-01

    Injuries account for a large burden of mortality and morbidity in the State of Qatar. No comprehensive study has been conducted on all types of injuries in the State of Qatar. The objective of this study was to determine the trend in the number, incidence and pattern of injuries in the State of Qatar. This hospital-based study is a retrospective analysis of 53,366 patients treated at the accident and emergency and trauma centres for injuries during the period from 2006 to 2010. Injuries were determined according to the ICD 10 criteria. The details of the entire trauma patients who were involved in occupational/domestic injuries were extracted from the database of the Emergency Medical Services (EMS), Hamad Medical Corporation. Our results demonstrated that the rates of injury remained relatively stable in the State of Qatar over the five-year period. Those most at risk of injury were non-Qatari males who were below 30 years. Road traffic accidents (RTA) (36.7%) followed by falls causing back injuries (11.0%) were the most common types of injuries during the period. Most of the injuries occurred at the head for both males (17.7%) and females (13.5%); this was consistently the case across all of the age groups. The greatest proportion of RTA (21.2%), industrial machinery injuries (16.4%), construction injuries (15.5%), recreational sporting injuries (20.5%) and beach/sea/ocean injuries (15.0%) resulted in head injuries. Intervention efforts need to be aimed at reducing occupational injuries, RTA injuries and work-related hazards in the State of Qatar. PMID:22455450

  8. Observational study of atmospheric surface layer and coastal weather in northern Qatar

    NASA Astrophysics Data System (ADS)

    Samanta, Dhrubajyoti; Sadr, Reza

    2016-04-01

    Atmospheric surface layer is the interaction medium between atmosphere and Earth's surface. Better understanding of its turbulence nature is essential in characterizing the local weather, climate variability and modeling of turbulent exchange processes. The importance of Middle East region, with its unique geographical, economical and weather condition is well recognized. However, high quality micrometeorological observational studies are rare in this region. Here we show experimental results from micrometeorological observations from an experimental site in the coastal region of Qatar during August-December 2015. Measurements of winds are obtained from three sonic anemometers installed on a 9 m tower placed at Al Ghariyah beach in northern Qatar (26.08 °N, 51.36 °E). Different surface layer characteristics is analyzed and compared with earlier studies in equivalent weather conditions. Monthly statistics of wind speed, wind direction, temperature, humidity and heat index are made from concurrent observations from sonic anemometer and weather station to explore variations with surface layer characteristics. The results also highlights potential impact of sea breeze circulation on local weather and atmospheric turbulence. The observed daily maximum temperature and heat index during morning period may be related to sea breeze circulations. Along with the operational micrometeorological observation system, a camera system and ultrasonic wave measurement system are installed recently in the site to study coastline development and nearshore wave dynamics. Overall, the complete observational set up is going to provide new insights about nearshore wind dynamics and wind-wave interaction in Qatar.

  9. Case study on combined CO₂ sequestration and low-salinity water production potential in a shallow saline aquifer in Qatar.

    PubMed

    Ahmed, Tausif Khizar; Nasrabadi, Hadi

    2012-10-30

    CO₂ is one of the byproducts of natural gas production in Qatar. The high rate of natural gas production from Qatar's North Field (world's largest non-associated gas field) has led to the production of significant amounts of CO₂. The release of CO₂ into the atmosphere may be harmful from the perspective of global warming. In this work, we study the CO₂ sequestration potential in Qatar's Aruma aquifer. The Aruma aquifer is a saline aquifer in the southwest of Qatar. It occupies an area of approximately 1985 km₂ on land (16% of Qatar's total area). We have developed a compositional model for CO₂ sequestration in the Aruma aquifer on the basis of available log and flow test data. We suggest water production at some distance from the CO₂ injection wells as a possible way to control the pore pressure. This method increases the potential for safe sequestration of CO₂ in the aquifer without losing integrity of the caprock and without any CO₂ leakage. The water produced from this aquifer is considerably less saline than seawater and could be a good water source for the desalination process, which is currently the main source of water in Qatar. The outcome of the desalination process is water with higher salinity than the seawater that is currently discharged into the sea. This discharge can have negative long-term environmental effects. The water produced from the Aruma aquifer is considerably less saline than seawater and can be a partial solution to this problem.

  10. Project analysis procedures for an OPEC country: case study of Qatar's Northwest Dome Gas Project

    SciTech Connect

    Ali, A.B.; Khalifah, H.

    1986-01-01

    The discovery of oil in most OPEC countries in the 1940s changed the economies of these countries from a state of capital shortage and stagnation to a state of capital surplus and economic growth. This growth, however, is lopsided. Oil production and export dominate the gross domestic products (GDPs) of those economies. Concern arising during the 1970s about overdependence on crude oil export as the main source of national income has resulted in the initiation of various industrial development programs in OPEC states aiming to diversify their economies. This study was conducted with two primary objectives: (1) to identify and understand the features of selected OPEC countries' development problems, strategies and plans, focusing on the role of oil and gas resources and opportunities for diversification, and (2) to suggest an appropriate development strategy, with project evaluation implications, for capital-abundant, labor-scarce OPEC countries in the Gulf region such as Qatar. This proposed approach is designed to evaluate the project from its contribution to the national income, people's welfare, the expansion of the economy's absorptive capacity, and relief of the economy's dependence on nonrenewable resources. The Northwest Dome Gas Project in Qatar was selected as an illustrative case study for this approach.

  11. University Faculty Members' Perceptions of the Factors That Facilitate Technology Integration into Their Instruction: An Exploratory Case Study in Qatar

    ERIC Educational Resources Information Center

    Karkouti, Ibrahim Mohamad

    2016-01-01

    This qualitative, exploratory case study was designed to elicit faculty members' perceptions of the factors that facilitate technology integration into their instruction. The study was conducted at a midsized higher education institution in Qatar. Davis's (1986) technology acceptance model (TAM) is the conceptual framework that guided this study…

  12. Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.

    PubMed

    El Shanti, Hatem; Chouchane, Lotfi; Badii, Ramin; Gallouzi, Imed Eddine; Gasparini, Paolo

    2015-11-14

    In 2013 both Saudi Arabia and Qatar launched genome projects with the aim of providing information for better diagnosis, treatment and prevention of diseases and, ultimately to realize personalized medicine by sequencing hundred thousands samples. These population based genome activities raise a series of relevant ethical, legal and social issues general, related to the specific population structure as well as to the Islamic perspective on genomic analysis and genetic testing. To contribute to the debate, the Authors after reviewing the existing literature and taking advantage of their professional experience in the field and in the geographic area, discuss and provide their opinions. In particular, the Authors focus on the impact of consanguinity on population structure and disease frequency in the Arab world, on genetic testing and genomic analysis (i.e. technical aspects, impact, etc.) and on their regulations. A comparison between the Islamic perspective and the ethical, social and legal issues raised in other population contexts is also carried. In conclusion, this opinion article with an up-to-date contribution to the discussion on the relevance and impact of genomic analysis and genetic testing in the Arab world, might help in producing specific national guidelines on genetic testing and genomic analysis and help accelerate the implementation and roll out of genome projects in Muslim countries and more specifically in Qatar, and other countries of the Gulf.

  13. Acinetobacter Infections among Adult Patients in Qatar: A 2-Year Hospital-Based Study

    PubMed Central

    Al Samawi, Musaed Saad; Khan, Fahmi Yousef; Eldeeb, Yasser; Almaslamani, Muna; Alkhal, Abdullatif; Alsoub, Hussam; Ghadban, Wissam; Howady, Faraj; Hashim, Samar

    2016-01-01

    This retrospective study was conducted at Hamad General Hospital, Qatar, to describe the demographic data, clinical features underlying diseases, antimicrobial susceptibility, and outcome of A. baumannii infection. It involved all adult patients 15 years of age or older who were managed at Hamad General Hospital for A. baumannii infection from January 1, 2012, to December 31, 2013. We identified a total of 239 patients with A. baumannii infection, of which 182 (76.2%) were males. The mean age was 49.10 ± 19.57 years. The majority of the episodes (25.1%) occurred in elderly patients (≥65 years) and the most commonly identified site of A. baumannii infection was the respiratory tract, 117 (48.9%). Most episodes of infection, 231 (96.7%), were hospital-acquired and high rate of nosocomial infections occurred in the medical intensive care unit, 66 (28.6%). All patients had underlying medical conditions. Maximum resistance was seen to cefotaxime, 147 (58.3%), and minimum resistance was seen to colistin, 2 (1.4%). Of the 239 isolates, 102 (42.7%) were susceptible and 137 (57.3%) were multidrug-resistant. The in-hospital mortality in our study was 31%. Male gender, multidrug resistance, and septic shock were found to be independent mortality predictors. PMID:27433169

  14. Beliefs and attitudes about breast cancer and screening practices among Arab women living in Qatar: a cross-sectional study

    PubMed Central

    2013-01-01

    Background Despite rising breast cancer incidence and mortality rates, breast cancer screening (BCS) rates among women in Qatar remain low. Previous studies indicate the need to better understand the many complex beliefs, values, and attitudes that influence Arab women’s health seeking behavior for the development of culturally appropriate and effective intervention strategies to address breast cancer in the Middle East. This study investigates beliefs, attitudes, and BCS practices of Arabic-speaking women in Qatar. Methods A multicenter, cross-sectional quantitative survey of 1,063 (87.5% response rate) Arabic-speaking female Qatari citizens and non-Qatari residents, 35 years of age or older, was conducted in Qatar from March 2011 to July 2011. Associations between beliefs and BCS practice were estimated using chi-square tests and multivariate logistic regression analyses. Participants who adhered to BCS guidelines (BCS practice = Yes) were compared to those who did not (BCS practice = No). Results In addition to low levels of awareness and low participation rates in BCS, one quarter of the participants stated their doctors talked to them about breast cancer, and less than half of the women interviewed believed breast cancer can be prevented. Women who engaged in BCS practice were more likely to have a doctor who talked to them about breast cancer, to believe they were in good–excellent health, that cancer can be prevented, or that cancer might be hereditary. The majority wanted to know if they had cancer and felt their health care needs were being met. The main reasons given for not planning BCS were lack of a doctor’s recommendation, fear, and embarrassment. Conclusions These findings indicate that a variety of channels (health care providers, media, breast cancer survivors, community leaders) should be utilized to create culturally appropriate breast cancer intervention programs and increased awareness of breast cancer, BCS, and the benefits of

  15. Attitudes toward science among grades 3 through 12 Arab students in Qatar: findings from a cross-sectional national study

    NASA Astrophysics Data System (ADS)

    Said, Ziad; Summers, Ryan; Abd-El-Khalick, Fouad; Wang, Shuai

    2016-03-01

    This study assessed students' attitudes toward science in Qatar. A cross-sectional, nationwide probability sample representing all students enrolled in grades 3 through 12 in the various types of schools in Qatar completed the 'Arabic Speaking Students' Attitudes toward Science Survey' (ASSASS). The validity and reliability of the 32-item instrument, encompassing five sub-scales, have already been shown to be robust. The present analysis focused on responses from 1978 participants representing the students who completed the ASSASS in Arabic. Descriptive statistics were computed and a competing pair of multiple indicators multiple causes models is presented that attempt to link patterns in students' responses to the ASSASS with a set of indicators. The final model retained student age, gender, nationality (i.e. Qatari vs. Non-Qatari Arab), and school type as indicators. Findings from this study suggest that participants' attitudes toward science decrease with age, and that these attitudes and related preferences are influenced by students' nationality and the type of school they attend. Equally important, the often-reported advantages for male over female precollege students in terms of attitudes toward science were much less prominent in the present study.

  16. Challenges and opportunities of US and Arab collaborations in health services research: a case study from Qatar.

    PubMed

    Hammoud, Maya M; Elnashar, Maha; Abdelrahim, Huda; Khidir, Amal; Elliott, Heather A K; Killawi, Amal; Padela, Aasim I; Al Khal, Abdul Latif; Bener, Abdulbari; Fetters, Michael D

    2012-11-01

    Economic globalization and advances in technology have made it more feasible and even necessary to develop international research collaborations in global public health. Historically, collaborations in global research described in the literature have been mostly "North-South" collaborations in which the more developed "North" country works together with a developing "South" country to conduct research in the latter. This type of collaboration has for the most part, represented unequal partnership and rarely left behind a lasting impact. Recently, the opportunity for a new kind of international research partnership has emerged in which the host country has significant financial resources, but relatively limited expertise in research Methodology or techniques and research implementation.  This type of collaboration features a relative equalization of power between the international partners. The purpose of this paper is to describe the process of building a successful research collaboration between a team in the United States and a team in Qatar, a rich Arabic nation in Gulf. We present a case study that provides an overview of our own project focused on the development of a culturally and linguistically adapted health care quality instrument for Qatar, discussing many of the benefits and challenges we encountered during each phase of instrument development. We present recommendations for researchers seeking sustainable and equitable partnerships with the Arab World.

  17. Qatar: Energy and development

    SciTech Connect

    El Mallakh, R.

    1985-01-01

    Despite the traumas that have been experienced in the Arabian Gulf over the past five years, Qatar has been remarkably successful in smoothing the transition of its economy from recession and oil glut to recovery and stabilization. This book examines the characteristics of Qatar's economic and social development that have assisted this process. These characteristics include; moderation in the development policy and the avoidance of excessive haste; a cohesive sense of political identity; and a relatively well educated labor force derived from an educational program that was in place prior to the oil boom. Qatar has also maintained a moderate policy within OPEC. During the price hikes of 1979-80, caused by cutbacks in Iranian exports, Qatar maintained its policy of restraint; this was an important factor in permitting Qatar to confront the substantial drop in oil-generated revenues faced by all the oil exporters in 1982-84.

  18. A retrospective epidemiological study on the incidence of salmonellosis in the State of Qatar during 2004–2012

    PubMed Central

    Farag, Elmoubasher; Garcell, Humberto Guanche; Ganesan, Nandakumar; Ahmed, Shazia Nadeem N.; Al-Hajri, Mohammed; Al Thani, Shk. Mohammed Hamad J.; Al-Marri, Salih Ali; Ibrahim, Emad; Al-Romaihi, Hamad Eid

    2016-01-01

    Background: Salmonella is a food- and water-borne pathogen that can be easily spread in a population, leading to the outbreak of salmonellosis that is caused by ingestion of mixed salads contaminated by the pathogen. Most cases occur in the late spring months and can be seen as single cases, clusters, or episodes. Objective: The aim of this study was to describe the incidence and epidemiological characteristics of salmonellosis in the State of Qatar. Methods: This was a retrospective, descriptive study carried out in laboratory-confirmed cases of salmonellosis during 2004–2012 from all Salmonella surveillance centers. Therapeutic records of patients who were clinically suspected of having Salmonella diseases were analyzed. Initially, cases with typhoid fever were investigated in the laboratory by means of Widal agglutination tests, while non-typhoidal Salmonella diseases were determined based on culture technique. Results: The annual incident of salmonellosis cases were 12.3, 23.0, 30.3, 19.4, 15.3, 18.0, 22.7, 18.5, and 18.1 per 100,000 population in 2006–2011 and 2012, respectively. The number of salmonellosis cases was high among less than 2-year-old females and 3-year-old males. In addition, one-fourth of patients (27.7%) were Qatari when compared to other nationalities. A significant difference in age was found between Qatari (6.08 ± 12.28 years) and non-Qatari (15.04 ± 19.56 years) patients. Of the reported cases, 79.8% included the onset date of the first symptoms. Contact phone numbers were available for 94% of the cases but addresses were available for only 50.4% of cases. The time difference between onset of symptoms and diagnosis was 5.4 ± 5.7 days. The most frequent serotype reported were type b (41.9%), type d (26.9%), and type c1 (12.2%). Conclusion: The present surveillance data showed a high incidence of salmonellosis in Qatar that poses a serious public health problem. Special intervention and health awareness programs are required for

  19. A retrospective epidemiological study on the incidence of salmonellosis in the State of Qatar during 2004–2012

    PubMed Central

    Farag, Elmoubasher; Garcell, Humberto Guanche; Ganesan, Nandakumar; Ahmed, Shazia Nadeem N.; Al-Hajri, Mohammed; Al Thani, Shk. Mohammed Hamad J.; Al-Marri, Salih Ali; Ibrahim, Emad; Al-Romaihi, Hamad Eid

    2016-01-01

    Background: Salmonella is a food- and water-borne pathogen that can be easily spread in a population, leading to the outbreak of salmonellosis that is caused by ingestion of mixed salads contaminated by the pathogen. Most cases occur in the late spring months and can be seen as single cases, clusters, or episodes. Objective: The aim of this study was to describe the incidence and epidemiological characteristics of salmonellosis in the State of Qatar. Methods: This was a retrospective, descriptive study carried out in laboratory-confirmed cases of salmonellosis during 2004–2012 from all Salmonella surveillance centers. Therapeutic records of patients who were clinically suspected of having Salmonella diseases were analyzed. Initially, cases with typhoid fever were investigated in the laboratory by means of Widal agglutination tests, while non-typhoidal Salmonella diseases were determined based on culture technique. Results: The annual incident of salmonellosis cases were 12.3, 23.0, 30.3, 19.4, 15.3, 18.0, 22.7, 18.5, and 18.1 per 100,000 population in 2006–2011 and 2012, respectively. The number of salmonellosis cases was high among less than 2-year-old females and 3-year-old males. In addition, one-fourth of patients (27.7%) were Qatari when compared to other nationalities. A significant difference in age was found between Qatari (6.08 ± 12.28 years) and non-Qatari (15.04 ± 19.56 years) patients. Of the reported cases, 79.8% included the onset date of the first symptoms. Contact phone numbers were available for 94% of the cases but addresses were available for only 50.4% of cases. The time difference between onset of symptoms and diagnosis was 5.4 ± 5.7 days. The most frequent serotype reported were type b (41.9%), type d (26.9%), and type c1 (12.2%). Conclusion: The present surveillance data showed a high incidence of salmonellosis in Qatar that poses a serious public health problem. Special intervention and health awareness programs are required for

  20. Assessment of learning and study strategies of university students in Qatar using an Arabic translation of the Learning and Study Strategies Inventory.

    PubMed

    Alkhateeb, Haitham M; Nasser, Ramzi

    2014-06-01

    413 (119 men, 294 women) undergraduate university students in Qatar completed an Arabic version of the Learning and Study Strategies Inventory (LASSI) measuring Anxiety, Attitude, Concentration, Information Processing, Motivation, Self-testing, Selecting Main Ideas, Study Aids, Time Management, and Test Strategies. The students' learning and study strategies scores were similar to those reported in the literature. Factor analysis indicated the same general factors as in the original study. Internal consistency estimates ranged from .62 to .88. Nine of the 10 scales (i.e., all with the exception of the Study Aids) significantly correlated with students' GPAs. Scores obtained from these scales provide valid assessments of Qatar University students' use of learning and study strategies related to skill, will, and self-regulation components of strategic learning and also academic achievement. There also were statistically significant differences between higher and lower achieving students in their learning and study strategies. This study also explored the use of the LASSI as a predictive measure of academic achievement. Anxiety and test strategies were significant predictors of academic achievement as measured by students' GPA. PMID:25074313

  1. Assessment of learning and study strategies of university students in Qatar using an Arabic translation of the Learning and Study Strategies Inventory.

    PubMed

    Alkhateeb, Haitham M; Nasser, Ramzi

    2014-06-01

    413 (119 men, 294 women) undergraduate university students in Qatar completed an Arabic version of the Learning and Study Strategies Inventory (LASSI) measuring Anxiety, Attitude, Concentration, Information Processing, Motivation, Self-testing, Selecting Main Ideas, Study Aids, Time Management, and Test Strategies. The students' learning and study strategies scores were similar to those reported in the literature. Factor analysis indicated the same general factors as in the original study. Internal consistency estimates ranged from .62 to .88. Nine of the 10 scales (i.e., all with the exception of the Study Aids) significantly correlated with students' GPAs. Scores obtained from these scales provide valid assessments of Qatar University students' use of learning and study strategies related to skill, will, and self-regulation components of strategic learning and also academic achievement. There also were statistically significant differences between higher and lower achieving students in their learning and study strategies. This study also explored the use of the LASSI as a predictive measure of academic achievement. Anxiety and test strategies were significant predictors of academic achievement as measured by students' GPA.

  2. Teaching across Cultures: Canada and Qatar

    ERIC Educational Resources Information Center

    Prowse, Jacqueline; Goddard, J. Tim

    2010-01-01

    Findings from a comparative case study conducted in Canada and Qatar are presented in this article. The study examined the cultural context of a transnational post-secondary program offered by the Faculty of Business at a Canadian college, with campuses located in both St. John's and Doha. The instructors' perceptions of their students' cultures…

  3. Misoprostol use in medical evacuation of spontaneous miscarriage: Pilot drug use evaluation study at the Women's Hospital in Qatar

    PubMed Central

    ElSalem, Samah A.; AlSaad, Doua T.; Abdulrouf, Palli V.; Ahmed, Afif A.; AlHail, Moza S.

    2016-01-01

    Background: Misoprostol is a synthetic prostaglandin E1 that induces cervical effacement and uterine contractions at all gestational ages, thus facilitating uterine evacuation and pregnancy termination. Successful medical evacuation of spontaneous miscarriage with minimal adverse effects can be performed using misoprostol-only regimen if given as indicated and if the administered dose, frequency of the dosage, and number of total doses are appropriate. Aim: To conduct a drug use evaluation by investigating indications, appropriateness of dosing, and clinical outcome of misoprostol-only regimen when used for medical evacuation of spontaneous miscarriage at the Women's Hospital in Doha, Qatar. Materials and methods: A retrospective descriptive drug use evaluation was conducted on women with spontaneous miscarriage who received misoprostol for medical evacuation during August 2013. The current practice at the Women's Hospital was compared with the recommendation from the World Health Organization (WHO). Patients were stratified into three groups based on weeks of amenorrhea. Results: A total of 107 patients received misoprostol during August 2013, of which 33 (31%) were included in the study. In these patients, the main indication for misoprostol use was missed miscarriage (54.5%). In the group of patients at ≤ 9 weeks of gestation, 80% received an initial dose of 800 μg, 80% received frequency within the WHO recommendation, and the majority had surgical evacuation (80%). In the group of patients at 10–12 weeks of gestation, more than 80% received an initial dose of 800 μg, 6% received frequency within the WHO recommendation, and more than 75% had successful medical evacuation. In the group of patients at 13–22 weeks of gestation, more than 80% received an initial dose of 400 μg, more than 80% received frequency within the WHO recommendation, and 54% had successful medical evacuation. Overall, more than 70% of the patients received ≤ 3 total doses of

  4. The Qatar Exoplanet Survey

    NASA Astrophysics Data System (ADS)

    Alsubai, K. A.; Parley, N. R.; Bramich, D. M.; Horne, K.; Collier Cameron, A.; West, R. G.; Sorensen, P. M.; Pollacco, D.; Smith, J. C.; Fors, O.

    2013-12-01

    The Qatar Exoplanet Survey (QES) is discovering hot Jupiters and aims to discover hot Saturns and hot Neptunes that transit in front of relatively bright host stars. QES currently operates a robotic wide-angle camera system to identify promising transiting exoplanet candidates among which are the confirmed exoplanets Qatar 1b and 2b. This paper describes the first generation QES instrument, observing strategy, data reduction techniques, and follow-up procedures. The QES cameras in New Mexico complement the SuperWASP cameras in the Canary Islands and South Africa, and we have developed tools to enable the QES images and light curves to be archived and analysed using the same methods developed for the SuperWASP datasets. With its larger aperture, finer pixel scale, and comparable field of view, and with plans to deploy similar systems at two further sites, the QES, in collaboration with SuperWASP, should help to speed the discovery of smaller radius planets transiting bright stars in northern skies.

  5. A preliminary report on the distribution of lizards in Qatar

    PubMed Central

    Cogălniceanu, Dan; Castilla, Aurora M; Valdeón, Aitor; Gosá, Alberto; Al-Jaidah, Noora; Alkuwary, Ali; Saifelnasr, Essam O. H.; Mas-Peinado, Paloma; Richer, Renee; Al-Hemaidi, Ahmad Amer Mohd

    2014-01-01

    Abstract We have updated the list of the lizard species present in Qatar and produced the first distribution maps based on two field surveys in 2012 and 2013. We used the QND95/Qatar National Grid with a grid of 10 × 10 km squares for mapping. Our results show the occurrence of 21 lizard species in Qatar, from the 15 species indicated in the last biodiversity report conducted in 2004. The most abundant family found in Qatar is Gekkonidae with nine species (Bunopus tuberculatus, Cyrtopodion scabrum, Hemidactylus robustus, H. flaviviridis, H. persicus, Stenodactylus arabicus, S. slevini, S. doriae, Pseudoceramodactylus khobarensis), followed by Lacertidae with four species (Acanthodactylus schmidti, A. opheodurus, Mesalina brevirostris, M. adramitana), Agamidae with three species (Trapelus flavimaculatus, Uromastyx aegyptia, Phrynocephalus arabicus), Scincidae with two species (Scincus mitranus, Trachylepis septemtaeniata), and Varanidae (Varanus griseus), Sphaerodactylidae (Pristurus rupestris) and Trogonophiidae (Diplometopon zarudnyi) with one species each. The species richness fluctuated largely across Qatar between one and eleven species per grid square. We believe that the lizard fauna records in Qatar are still incomplete and that additional studies are required. However, our study here fills a gap concerning lizard biodiversity knowledge in the Gulf Region. PMID:24493961

  6. Molecular basis of thalassemia in Qatar.

    PubMed

    Al-Obaidli, Aisha; Hamodat, Mowafak; Fawzi, Zainab; Abu-Laban, Mohamed; Gerard, Nathalie; Krishnamoorthy, Rajagopal

    2007-01-01

    There is a paucity of information on the molecular basis of beta-thalassemia (thal) in Qatar, a country in the southern part of the Arabian Gulf. To decipher the molecular spectrum of beta- thalassemic alleles present in Qatar, we studied 31 clinically recognized patients, including three with sickle cell disease and beta-thal, and an additional six cases referred for unexplained microcytic anemia. We found 12 different beta-thalassemic alleles and two yet to be defined alleles, mutations likely occurring elsewhere than in the beta-globin gene per se. This is quite striking, given the small size of the study population, and highlights not only the ethnic diversity, but also the necessity of further investigating the thalassemic spectrum. PMID:17486492

  7. Levels of radioactivity in Qatar

    SciTech Connect

    Al-Thani, A.A.; Abdul-Majid, S.; Mohammed, K.

    1995-12-31

    The levels of natural and man-made radioactivity in soil and seabed were measured in Qatar to assess radiation exposure levels and to evaluate any radioactive contamination that may have reached the country from fallout or due to the Chernobyl accident radioactivity release. Qatar peninsula is located on the Arabian Gulf, 4500 km from Chernobyl, and has an area of {approximately}11,600 km{sup 2} and a population of {approximately}600,000.

  8. The epidemiology of viral hepatitis in Qatar.

    PubMed

    Bener, Abdulbari; Al-Kaabi, Saad; Derbala, Moutaz; Al-Marri, Ajayeb; Rikabi, Ammar

    2009-03-01

    Viral hepatitis is a major public health problem in many countries all over the world and especially in Middle East, Asia, East-Europe, and Africa. The aim of our study was to assess the incidence of viral hepatitis A, B and C in Qatar and compare it with other countries. This is a retrospective cohort study, which was conducted at Hamad General Hospital, State of Qatar from 2002-2006. Patients who were screened and diagnosed with viral hepatitis were included in this study. The diagnostic classification of definite viral hepatitis was made in accordance with criteria based on the International Classification of Disease tenth revision (ICD-10). A total of 527 cases of hepatitis C, 396 cases of hepatitis B, 162 cases of hepatitis A and 108 cases of unspecified were reported during the year 2006. Reported incidence rate per 10,000 populations during the year 2006 for hepatitis A was 1.9, hepatitis B 4.7, and Hepatitis C 6.3. The proportion of hepatitis B and C was significantly higher in male population than females across the years (2002-2006). Hepatitis A was more prevalent in children below 15 years (72.3%), hepatitis B in adults aged above 15 years, and hepatitis C in the population above 35 years of age. The incidence of hepatitis A has been declining in Qataris and increasing in expatriates. There was a significant relationship in gender and age group of the patients with hepatitis A, B and C. We conclude that hepatitis has become a national health issue in Qatar. The incidence rate of hepatitis in Qatar is comparable to its neighboring countries, United Arab Emirates and Saudi Arabia. There is a need for further research on hepatitis and the associated risk factors.

  9. Mood disturbance and depression in Arab women following hospitalisation from acute cardiac conditions: a cross-sectional study from Qatar

    PubMed Central

    Donnelly, Tam Truong; Al Suwaidi, Jassim Mohd; Al-Qahtani, Awad; Asaad, Nidal; Fung, Tak; Singh, Rajvir; Qader, Najlaa Abdul

    2016-01-01

    Objectives Depression is associated with increased morbidity and mortality rates among cardiovascular patients. Depressed patients have three times higher risk of death than those who are not. We sought to determine the presence of depressive symptoms, and whether gender and age are associated with depression among Arab patients hospitalised with cardiac conditions in a Middle Eastern country. Setting Using a non-probability convenient sampling technique, a cross-sectional survey was conducted with 1000 Arab patients ≥20 years who were admitted to cardiology units between 2013 and 2014 at the Heart Hospital in Qatar. Patients were interviewed 3 days after admission following the cardiac event. Surveys included demographic and clinical characteristics, and the Arabic version of the Beck Depression Inventory Second Edition (BDI-II). Depression was assessed by BDI-II clinical classification scale. Results 15% of the patients had mild mood disturbance and 5% had symptoms of clinical depression. Twice as many females than males suffered from mild mood disturbance and clinical depression symptoms, the majority of females were in the age group 50 years and above, whereas males were in the age group 40–49 years. χ2 Tests and multivariate logistic regression analyses indicated that gender and age were statistically significantly related to depression (p<0.001 for all). Conclusions Older Arab women are more likely to develop mood disturbance and depression after being hospitalised with acute cardiac condition. Gender and age differences approach, and routine screening for depression should be conducted with all cardiovascular patients, especially for females in the older age groups. Mental health counselling should be available for all cardiovascular patients who exhibit depressive symptoms. PMID:27388362

  10. A Case Study On the Relative Influence of Free Tropospheric Subsidence, Long Range Transport and Local Production in Modulating Ozone Concentrations over Qatar

    NASA Astrophysics Data System (ADS)

    Ayoub, Mohammed; Ackermann, Luis; Fountoukis, Christos; Gladich, Ivan

    2016-04-01

    The Qatar Environment and Energy Research Institute (QEERI) operates a network of air quality monitoring stations (AQMS) around the Doha metropolitan area and an ozonesonde station with regular weekly launches and occasional higher frequency launch experiments (HFLE). Six ozonesondes were launched at 0700 LT/0400 UTC and 1300 LT/1000 UTC over a three day period between 10-12 September, 2013. We present the analysis of the ozonesonde data coupled with regional chemical transport modeling over the same time period using WRF-Chem validated against both the ozonesonde and surface AQMS measurements. The HFLE and modeling show evidence of both subsidence and transboundary transport of ozone during the study period, coupled with a strong sea breeze circulation on the 11th of September resulting in elevated ozone concentrations throughout the boundary layer. The development of the sea breeze during the course of the day and influence of the early morning residual layer versus daytime production is quantified. The almost complete titration of ozone in the morning hours of 11 September, 2013 is attributed to local vehicular emissions of NOx and stable atmospheric conditions prevailing over the Doha area. The relative contribution of long range transport of ozone along the Arabian Gulf coast and local urban emissions are discussed.

  11. Prevalence of Vitamin D Insufficiency in Qatar: a Systematic Review

    PubMed Central

    Badawi, Alaa; Arora, Paul; Sadoun, Eman; Al-Thani, Al-Anoud; Thani, Mohamed H. Al

    2012-01-01

    Qatar has a high burden of chronic diseases including obesity, cardiovascular disease and type 2 diabetes mellitus. Low serum vitamin D levels have been implicated in the development and progression of a range of these chronic conditions. The prevalence of vitamin D insufficiency or deficiency in the general population of Qatar has still not been investigated. The aim of this study was to carry out a systematic review of published studies documenting the prevalence of vitamin D insufficiency or deficiency in the Qatari population. A search strategy was developed for online databases (PubMed, Ovid MEDLINE, Embase and Embase Classic) between 1980 to the last week of August 2012, and bibliographies of the included studies were further searched for additional reports. Search terms used were QATAR and VITAMIN D. Studies reporting the serum levels of vitamin D in several Qatari sub-populations were identified. Weighted-average vitamin D serum levels and prevalence of low vitamin D status (<75 nmol/L) were calculated. Subgroup analysis was carried out by age. The quality of each study was evaluated according to four criteria: national representativeness, representation of males and females, the sample size, and the sampling protocol. A total of 16 relevant publications were identified, and 8 of these (reporting from 7 unique studies) met our inclusion and exclusion criteria with a total number of 1,699 Qatari subjects. The pooled sample size weighted-average vitamin D concentration (±SD) was 45.3±14.3 nmol/L (95% CI: 44.6-46.0; range 29.2-66.9 nmol/L). The weighted-average prevalence of low vitamin D status was 90.4% (95% CI: 90.1-91.0; range 83%-91%). Age was inversely correlated with vitamin D levels and directly with its insufficiency/deficiency prevalence. There have only been a few studies on the prevalence of low vitamin D in Qatar a very high prevalence of vitamin D insufficiency/deficiency in Qatar that increases with age has been suggested. The present report

  12. Impact of noncommunicable diseases in the State of Qatar

    PubMed Central

    Al-Kaabi, Salma Khalaf; Atherton, Andrew

    2015-01-01

    This study, commissioned by the Supreme Council of Health in the State of Qatar, focuses on the main noncommunicable diseases (NCDs) globally and regionally, in order to gauge their potential impact on Qatar. The research shows that the Gulf Cooperation Council is projected to be affected dramatically by NCDs in the coming years. The top five NCDs that will affect Qatar in terms of economic burden and disability-adjusted life years are cardiovascular diseases, mental health and behavioral disorders, cancer, respiratory diseases, and diabetes. Whilst these diseases have diverse effects on patients, their causes can be traced to “… common lifestyle-related, or behavioral, risk factors such as tobacco use, a diet heavy in fat, and physical inactivity”. The total direct and indirect costs to the Gulf Cooperation Council calculated for the above five NCDs were $36.2 billion in 2013, which equates to 150% of the officially recorded annual health care expenditure. If this trajectory is maintained, spending per head of population in Qatar will reach $2,778 by 2022. These figures demonstrate not only the potential financial impact of the main NCDs, but also give an idea of how the current health system is working to address them. PMID:26170702

  13. An Examination of Income Effect on Consumers’ Ethical Evaluation of Counterfeit Drugs Buying Behaviour: A Cross-Sectional Study in Qatar and Sudan

    PubMed Central

    Alfadl, Abubakr Abdelraouf; Maraghi, Fatima Abdulla; Mohammad, Khadijah Shhab

    2016-01-01

    Introduction There are limited studies on consumer behaviour toward counterfeit products and the determining factors that motivate willingness to purchase counterfeit items. Aim This study aimed to fill this literature gap through studying differences in individual ethical evaluations of counterfeit drug purchase and whether that ethical evaluation affected by difference in income. It is hypothesized that individuals with lower/higher income make a more/less permissive evaluation of ethical responsibility regarding counterfeit drug purchase. Materials and Methods To empirically test the research assumption, a comparison was made between people who live in the low-income country Sudan and people who live in the high-income country Qatar. The study employed a face-to-face structured interview survey methodology to collect data from 1,170 subjects and the Sudanese and Qatari samples were compared using independent t-test at alpha level of 0.05 employing SPSS version 22.0. Results Sudanese and Qatari individuals were significantly different on all items. Sudanese individuals scored below 3 for all Awareness of Societal Consequences (ASC) items indicating that they make more permissive evaluation of ethical responsibility regarding counterfeit drug purchase. Both groups shared a basic positive moral agreement regarding subjective norm indicating that influence of income is not evident. Conclusion Findings indicate that low-income individuals make more permissive evaluation of ethical responsibility regarding counterfeit drugs purchase when highlighting awareness of societal consequences used as a deterrent tool, while both low and high-income individuals share a basic positive moral agreement when subjective norm dimension is exploited to discourage unethical buying behaviour. PMID:27790465

  14. Revitalizing Qatar's National University. Research Brief

    ERIC Educational Resources Information Center

    Steinberg, Paul

    2009-01-01

    Although Qatar University (QU) had been well regarded in the past, its performance had deteriorated by 2003, and the country's leadership was concerned that the university was not meeting Qatar's needs. From 2003 to 2007, the university led a reform process facilitated by RAND and outside experts, which clarified QU's mission and reformed QU's…

  15. Characteristics of patients with definite septic arthritis at Hamad General Hospital, Qatar: a hospital-based study from 2006 to 2011.

    PubMed

    Khan, Fahmi Yousef; Abu-Khattab, Mohammed; Baagar, Khalid; Mohamed, Shehab Fareed; Elgendy, Islam; Anand, Deshmukh; Malallah, Hani; Sanjay, Doiphode

    2013-07-01

    The aim of this retrospective study was to determine the epidemiological and clinical characteristics, coexisting conditions, causative organisms, and outcomes of all adult patients 15 years of age or older who had definite septic arthritis at Hamad General Hospital, Qatar, from 2006 to 2011. During this period, 56 patients were diagnosed with septic arthritis (mean age ± SD, 49.0 ± 16.6 years). In 53 of 56 (94.6%) patients, arthritis was diagnosed in a single joint, while polyarthritis was diagnosed in 3 of 56 (5.4%) patients; the most commonly involved joint was the knee (40 of 59 joints, 67.7%). The most frequent coexisting condition was diabetes mellitus (24 of 56 patients, 42.8%). Joint pain and restriction of movement were reported by all patients. Gram-positive bacteria accounted for 36 of all 57 (63.0%) isolated microorganisms, and Staphylococcus aureus was the most common pathogen (20 of 57 microorganisms, 35.0%). Three cases of tuberculous arthritis were seen. The most favored antibiotic combinations were cloxacillin/ciprofloxacin, cefazolin/ciprofloxacin, and vancomycin/ciprofloxacin. Repeated needle aspiration, open joint drainage, and arthroscopic techniques were performed in 18 (32.1%), 22 (39.3%), and 11 (19.6%) of the 56 patients, respectively. The 30-day mortality was 3.6%, and the remaining patients showed clinical improvement upon discharge. In conclusion, there was no specific sign or symptom for diagnosing septic arthritis. Isolation of bacteria from the synovial fluid confirmed the diagnosis, and S. aureus and streptococci were the most common pathogens isolated. Prompt treatment with appropriate antibiotics and synovial drainage are mandatory to improve the outcome.

  16. Uncommon opportunistic yeast bloodstream infections from Qatar.

    PubMed

    Taj-Aldeen, Saad J; AbdulWahab, Atqah; Kolecka, Anna; Deshmukh, Anand; Meis, Jacques F; Boekhout, Teun

    2014-07-01

    Eleven uncommon yeast species that are associated with high mortality rates irrespective of antifungal therapy were isolated from 17/187 (201 episodes) pediatric and elderly patients with fungemia from Qatar. The samples were taken over a 6-year period (January 2004-December 2010). Isolated species included Kluyveromyces marxianus, Lodderomyces elongisporus, Lindnera fabianii, Candida dubliniensis, Meyerozyma guilliermondii, Candida intermedia, Pichia kudriavzevii, Yarrowia lipolytica, Clavispora lusitaniae, Candida pararugosa, and Wickerhamomyces anomalus. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry provided correct identifications compared with molecular analysis testing of the same isolates. Low minimal inhibitory concentrations were found when isavuconazole and voriconazole were used for all uncommon yeast species evaluated in this study. Resistance to antifungal drugs was low and remained restricted to a few species. PMID:24934803

  17. Qatar Peninsula, United Arab Emirates, Persian Gulf

    NASA Technical Reports Server (NTRS)

    1983-01-01

    In this view of the Qatar Peninsula, United Arab Emirates, Persian Gulf, (25.0N, 51.0E) a large oil spill, seen as a large dark toned mass in the water covers much of the surface of the western Persian Gulf. Qatar is one of several of the oil rich United Arab Emirate states. Oil spills and oil pollution of the environment are common occurrances associated with oil tanker loading operations.

  18. A study of reasons of non-compliance of psychiatric treatment and patients' attitudes towards illness and treatment in Qatar.

    PubMed

    Bener, Abdulbari; Dafeeah, Elnour E; Salem, Mohamad O

    2013-04-01

    The aim of this study was to examine the extent of psychiatric patients' compliance and non-compliance with treatment and examine the factors that affect compliance. Patients were recruited who were between 16 and 60 years of age and who were hospitalized with a psychiatric disorder and treated in the outpatient clinics of the psychiatry department. A total of 689 patients were approached and 564 patients agreed to participate in the study, a response rate of 81.8%. Participants were asked to complete a questionnaire that asked about socio-demographic characteristics (e.g., age, gender, nationality, level of education, occupation, marital status, and life style habits); medication(s) prescribed and the participant's response; the degree of social supervision (rated subjectively by the patient as "poor," "good," or "very good"); data also were obtained from clinical records. Data analyses explored significant associations between compliance and non-compliance and a group of relevant variables. Of the 564 patients studied, 328 (58.2%) were compliant with treatment and 236 (41.8%) were non-compliant. There was no significant difference between compliance and non-compliance in terms of gender (p = 0.471). Patients between 21-30 years of age were significantly more compliant with drug treatment than not. Non-compliance was more common among patients diagnosed with schizophrenia (28.4%), followed by depression (14.4%), and bipolar affective disorder (12.7%) (p = 0.001). Only 25% of compliant patients and 26.3% of non-compliant patients used non-psychotropic medication. Social supervision (40%) was very poor in non-compliant patients whereas 49.4% of compliant patients had very good family support. Notable reasons for non-compliance were irregular attendance to clinic (55.5%), ignorance about side effects of medication (61%), free medicine (45.8%), and a lack of education about medication (58.1%). This study revealed that non-compliance rates among psychiatry patients

  19. Liberal Arts Education in Qatar: Intercultural Perspectives

    ERIC Educational Resources Information Center

    Rostron, Magdalena

    2009-01-01

    This paper is an attempt to sketch a historical, cultural and social background of recent educational developments in Qatar, briefly review the traditions of western liberal arts education with its goals and teaching and learning methodologies, explain its benefits and their relevance to Muslim Qatari students of universities in Education City in…

  20. What do the trace metal contents of urine and toenail samples from Qatar׳s farm workers bioindicate?

    PubMed

    Kuiper, Nora; Rowell, Candace; Nriagu, Jerome; Shomar, Basem

    2014-05-01

    Qatar׳s farm workers provide a unique population for exposure study: they are young, healthy males. This study combined trace element profiles in urine and toenail with survey information from 239 farm workers to assess the extent to which the biomarkers provide complementary exposure information. Urinary Mo levels (average=114 µg/L) were elevated; average urinary values (µg/L) for all other elements were: V (1.02), Cr (0.55), Mn (2.15), Fe (34.1), Co (0.47), Ni (2.95), Cu (15.0), As (47.8), Se (25.7), Cd (1.09), Ba (22.5), Pb (2.50) and U (0.15). Average toenail concentrations (mg/kg) were: Mn (2.48), Cu (4.43), As (0.26), Se (0.58), Mo (0.07), Cd (0.03), Ba (1.00), Pb (0.51) and U (0.02). No significant association was found between corresponding elements in urine and toenails. Elemental profiles suggest groundwater (with the exception of Mo) and soil-dust-crop exposure pathways cannot account for elemental variations. The main factors moderating trace element contents are related to depuration processes involving participants׳ trace element body burden prior to work in Qatar, and interactions of trace element metabolic cycles which over-ride the exposure footprint. Toenail and urine need to be carefully validated before reliable use as biomarkers of exposure in general populations for most elements in the study.

  1. What do the trace metal contents of urine and toenail samples from Qatar׳s farm workers bioindicate?

    PubMed

    Kuiper, Nora; Rowell, Candace; Nriagu, Jerome; Shomar, Basem

    2014-05-01

    Qatar׳s farm workers provide a unique population for exposure study: they are young, healthy males. This study combined trace element profiles in urine and toenail with survey information from 239 farm workers to assess the extent to which the biomarkers provide complementary exposure information. Urinary Mo levels (average=114 µg/L) were elevated; average urinary values (µg/L) for all other elements were: V (1.02), Cr (0.55), Mn (2.15), Fe (34.1), Co (0.47), Ni (2.95), Cu (15.0), As (47.8), Se (25.7), Cd (1.09), Ba (22.5), Pb (2.50) and U (0.15). Average toenail concentrations (mg/kg) were: Mn (2.48), Cu (4.43), As (0.26), Se (0.58), Mo (0.07), Cd (0.03), Ba (1.00), Pb (0.51) and U (0.02). No significant association was found between corresponding elements in urine and toenails. Elemental profiles suggest groundwater (with the exception of Mo) and soil-dust-crop exposure pathways cannot account for elemental variations. The main factors moderating trace element contents are related to depuration processes involving participants׳ trace element body burden prior to work in Qatar, and interactions of trace element metabolic cycles which over-ride the exposure footprint. Toenail and urine need to be carefully validated before reliable use as biomarkers of exposure in general populations for most elements in the study. PMID:24674761

  2. Identification of wind fields for wave modeling near Qatar

    NASA Astrophysics Data System (ADS)

    Nayak, Sashikant; Balan Sobhana, Sandeepan; Panchang, Vijay

    2016-04-01

    Due to the development of coastal and offshore infrastructure in and around the Arabian Gulf, a large semi-enclosed sea, knowledge of met-ocean factors like prevailing wind systems, wind generated waves, and currents etc. are of great importance. Primarily it is important to identify the wind fields that are used as forcing functions for wave and circulation models for hindcasting and forecasting purposes. The present study investigates the effects of using two sources of wind-fields on the modeling of wind-waves in the Arabian Gulf, in particular near the coastal regions of Qatar. Two wind sources are considered here, those obtained from ECMWF and those generated by us using the WRF model. The wave model SWAN was first forced with the 6 hourly ERA Interim daily winds (from ECMWF) having spatial resolution of 0.125°. For the second option, wind fields were generated by us using the mesoscale wind model (WRF) with a high spatial resolution (0.1°) at every 30 minute intervals. The simulations were carried out for a period of two months (7th October-7th December, 2015) during which measurements were available from two moored buoys (deployed and operated by the Qatar Meteorological Department), one in the north of Qatar ("Qatar North", in water depth of 58.7 m) and other in the south ("Shiraouh Island", in water depth of 16.64 m). This period included a high-sea event on 11-12th of October, recorded by the two buoys where the significant wave heights (Hs) reached as high as 2.9 m (i.e. max wave height H ~ 5.22 m) and 1.9 (max wave height H ~ 3.4 m) respectively. Model results were compared with the data for this period. The scatter index (SI) of the Hs simulated using the WRF wind fields and the observed Hs was found to be about 30% and 32% for the two buoys (total period). The observed Hs were generally reproduced but there was consistent underestimation. (Maximum 27% for the high-sea event). For the Hs obtained with ERA interim wind fields, the underestimation was

  3. Little Steps at Improving Preschool Teachers Practices through Counseling Skills in Qatar

    ERIC Educational Resources Information Center

    Al-Thani, Aisha; Nasser, Ramzi

    2012-01-01

    The study focused on the effects of basic counseling skills program, such as listening, understanding, respecting, and empathizing, to elementary school teachers in Qatar. Through a three-hour intervention program, the authors used a self-reported questionnaire, interview questions and classroom observations to examine changes in how preschool…

  4. Exploring the Relationship between Organizational Learning and Career Resilience among Faculty Members at Qatar University

    ERIC Educational Resources Information Center

    Abu-Tineh, Abdullah M.

    2011-01-01

    Purpose: Two main purposes guide this study. The first is to assess the level of individual, group, and organizational learning at Qatar University (QU), and the level of career resilience among its faculty members. The second is to explore the relationships between these levels of learning at QU and the career resilience of its faculty members.…

  5. Alignment of Teacher-Developed Curricula and National Standards in Qatar's National Education Reform

    ERIC Educational Resources Information Center

    Nasser, Ramzi; Zaki, Eman; Allen, Nancy; Al Mula, Badria; Al Mutawaha, Fatma; Al Bin Ali, Hessa; Kerr, Tricia

    2014-01-01

    This study investigated the degree to which teacher developed curriculum was aligned with the national standards in Qatar. Three sources of data included teacher response to a questionnaire, teacher interviews and expert rating of the alignment of teacher-developed materials with curriculum standards. A survey and interview questions measured…

  6. Qatar's K-12 Education Reform Has Achieved Success in Its Early Years. Research Brief

    ERIC Educational Resources Information Center

    Larson, Judy

    2009-01-01

    To evaluate progress made in the first years of Qatar's implementation of K-12 education reform, RAND analyzed data from school-level observations, national surveys, and national student assessments. The study found that students in the new, Independent schools were performing better than those in Ministry schools, and there was greater student…

  7. Evaluation of clinical pharmacy services offered for palliative care patients in Qatar.

    PubMed

    Wilby, Kyle John; Mohamad, Alaa Adil; AlYafei, Sumaya AlSaadi

    2014-09-01

    Palliative care is an emerging concept in the countries of the Gulf Cooperation Council, a political and economic union of Arab states bordering the Persian Gulf, namely Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and the United Arab Emirates. Clinical pharmacy services have not yet been evaluated in this region. The objectives of this study were to create a baseline inventory of clinical pharmacy interventions in palliative care and to assess the perceived importance of interventions made. This was a prospective, single-center characterization study. Interventions were documented from September 30 to December 1, 2013. They were characterized into predetermined categories and analyzed using descriptive statistics. Physician acceptance rate and intervention rate per patient were calculated. Classification categories were sent to 10 practicing pharmacists in each of Qatar and Canada, who ranked the categories on the basis of perceived importance. A total of 96 interventions were documented, giving 3 interventions per patient and an acceptance rate of 81%. Discontinuing therapy (29%), initiating therapy (25%), and provision of education/counseling (13.5%) were most common. No differences were found between rankings from pharmacists in Qatar or Canada. Clinical pharmacy interventions are frequent, and those relating to alterations in drug therapy are most common. Interventions align with the perceived importance from pharmacists in both Qatar and Canada.

  8. Applying Concepts of Critical Pedagogy to Qatar's Educational Reform

    ERIC Educational Resources Information Center

    Romanowski, Michael H.; Amatullah, Tasneem

    2016-01-01

    Qatar is in the midst of a systemic education reform, Education For a New Era, steered by RAND's (a nonprofit research organization) analysis and report of Qatar's Educational system. Driven by a neoliberal agenda, the reform includes international curricula, curriculum standards, teacher licensure, and professional standards for school leaders…

  9. Perspectives: Why Study Human Genetics?

    ERIC Educational Resources Information Center

    Childs, Barton

    1983-01-01

    Reasons for studying human genetics are discussed. These include philosophical reasons, reasons of health, and social reasons. While content, interpretation, and emphasis of human genetics study will vary depending upon schools, teachers, and developmental stages of students, it is suggested that teachers address these three domains. (Author/JN)

  10. Genetic studies of substance abuse.

    PubMed

    Vanyukov, M M; Tarter, R E

    2000-05-01

    Genetic studies of substance abuse indicate that variation in the risk for the disorder in the population is contributed by differences in both individual genotypes and environment. Recent developments in genetics raise the possibility of disentangling the complex system of genotype-environment interaction that determines the development of the individual behavioral phenotype. This paper reviews the concepts, methods and results pertaining to genetic investigation of substance abuse.

  11. No variations in transit times for Qatar-1 b

    NASA Astrophysics Data System (ADS)

    Maciejewski, G.; Fernández, M.; Aceituno, F. J.; Ohlert, J.; Puchalski, D.; Dimitrov, D.; Seeliger, M.; Kitze, M.; Raetz, St.; Errmann, R.; Gilbert, H.; Pannicke, A.; Schmidt, J.-G.; Neuhäuser, R.

    2015-05-01

    Aims: The transiting hot-Jupiter planet Qatar-1 b exhibits variations in transit times that could be perturbative. A hot Jupiter with a planetary companion on a nearby orbit would constitute an unprecedented planetary configuration, which is important for theories of the formation and evolution of planetary systems. We performed a photometric follow-up campaign to confirm or refute transit timing variations. Methods: We extend the baseline of transit observations by acquiring 18 new transit light curves acquired with 0.6-2.0 m telescopes. These photometric time series, together with data available in the literature, were analyzed in a homogenous way to derive reliable transit parameters and their uncertainties. Results: We show that the dataset of transit times is consistent with a linear ephemeris leaving no hint of any periodic variations with a range of 1 min. We find no compelling evidence of a close-in planetary companion to Qatar-1 b. This finding is in line with a paradigm that hot Jupiters are not components of compact multiplanetary systems. Based on dynamical simulations, we place tighter constraints on the mass of any fictitious nearby planet in the system. Furthermore, new transit light curves allowed us to redetermine system parameters with better precision than reported in previous studies. Our values generally agree with previous determinations. Partly based on (1) data collected with telescopes at the Rozhen National Astronomical Observatory and (2) observations obtained with telescopes of the University Observatory Jena, which is operated by the Astrophysical Institute of the Friedrich-Schiller-University.Tables of light curve data are only available at the CDS via anonymous ftp to http://cdsarc.u-strasbg.fr (ftp://130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/577/A109

  12. Qatargas exporting LNG from Qatar`s new Ras Laffan Port

    SciTech Connect

    1997-02-24

    When the 135,000 cu m LNG carrier Al Zubarah departed Ras Laffan Port in December, Qatar entered a new era of commerce that will both boost the emirate`s economic development and influence energy trade around the world. The event capped more than a decade of planning, design, and construction of Ras Laffan Port--the world`s newest and largest LNG exporting facility. During the 1980s, the focus in Qatar was on exploration and development of North field, which holds the world`s largest reserves of nonassociated natural gas. In the 1990s, efforts concentrated on establishing a direct production and export link between North field, the new multi-billion-dollar Qatar Liquefied Gas Co. (Qatargas) gas liquefaction plant at Ras Laffan, and LNG export facilities at the 8.5 sq km Ras Laffan Port. Markets of the Far East will be first to be served by LNG from Ras Laffan Port. Two 25-year LNG supply contracts have been signed with buyers in Japan and South Korea, and negotiations are under way with potential customers from China, Taiwan, and Thailand. The paper describes the port, its operations, and export projects.

  13. Controlling residential water demand in Qatar: an assessment.

    PubMed

    Al-Mohannadi, Hassan I; Hunt, Chris O; Wood, Adrian P

    2003-08-01

    Qatar has serious water resource problems, following rapid socioeconomic development and massive population increase. Municipal water provision depends on costly and unsustainable desalination. There is little regulation. Native Qataris do not pay a water tariff and migrants pay a subsidized price--approximately one third of the cost of production--so there is little awareness of the true cost of water and use is profligate. This paper discusses trends in water use and identifies issues underlying sustainable water use in Qatar. A questionnaire of respondents chosen to represent Qatari social groups measured awareness and attitudes to water. The results show that previous efforts to control water demand in Qatar, using awareness campaigns, legal restrictions and tariffs, have been ineffectual. The questionnaire evaluated reactions to possible measures to limit uses by raising awareness, using legal restrictions and raising tariffs. From this, a number of policy changes can be suggested, to bring Qatar's water industry towards sustainability.

  14. Remote sensing of Qatar nearshore habitats with perspectives for coastal management.

    PubMed

    Warren, Christopher; Dupont, Jennifer; Abdel-Moati, Mohamed; Hobeichi, Sanaa; Palandro, David; Purkis, Sam

    2016-04-30

    A framework is proposed for utilizing remote sensing and ground-truthing field data to map benthic habitats in the State of Qatar, with potential application across the Arabian Gulf. Ideally the methodology can be applied to optimize the efficiency and effectiveness of mapping the nearshore environment to identify sensitive habitats, monitor for change, and assist in management decisions. The framework is applied to a case study for northeastern Qatar with a key focus on identifying high sensitivity coral habitat. The study helps confirm the presence of known coral and provides detail on a region in the area of interest where corals have not been previously mapped. Challenges for the remote sensing methodology associated with natural heterogeneity of the physical and biological environment are addressed. Recommendations on the application of this approach to coastal environmental risk assessment and management planning are discussed as well as future opportunities for improvement of the framework.

  15. Radioactivity levels in the marine environment along the Exclusive Economic Zone (EEZ) of Qatar.

    PubMed

    Al-Qaradawi, Ilham; Abdel-Moati, Mohamed; Al-Yafei, Mohsin Al-Ansi; Al-Ansari, Ebrahim; Al-Maslamani, Ibrahim; Holm, Elis; Al-Shaikh, Ismail; Mauring, Alexander; Pinto, Primal V; Abdulmalik, Dana; Amir, Amina; Miller, Mark; Yigiterhan, Oguz; Persson, Bertil

    2015-01-15

    A study on (137)Cs, (40)K, (226)Ra, (228)Ra, and (238)U was carried out along the EEZ of Qatar. Results serve as the first ever baseline data. The level of (137)Cs (mean value 1.6 ± 0.4 Bq m(-3)) in water filters was found to be in the same order of magnitude as reported by others in worldwide marine radioactivity studies. Results are also in agreement with values reported from other Gulf regions. The computed values of sediment-water distribution coefficients Kd, are lower than the values given by IAEA. Measurements were carried out for bottom sediments, biota samples like fish, oyster, sponge, seashell, mangrove, crab, shrimp, starfish, dugong and algae. The 'concentration factors' reported for biota samples are below the levels published by IAEA and cause no significant impact on human health for seafood consumers in Qatar.

  16. Radioactivity levels in the marine environment along the Exclusive Economic Zone (EEZ) of Qatar.

    PubMed

    Al-Qaradawi, Ilham; Abdel-Moati, Mohamed; Al-Yafei, Mohsin Al-Ansi; Al-Ansari, Ebrahim; Al-Maslamani, Ibrahim; Holm, Elis; Al-Shaikh, Ismail; Mauring, Alexander; Pinto, Primal V; Abdulmalik, Dana; Amir, Amina; Miller, Mark; Yigiterhan, Oguz; Persson, Bertil

    2015-01-15

    A study on (137)Cs, (40)K, (226)Ra, (228)Ra, and (238)U was carried out along the EEZ of Qatar. Results serve as the first ever baseline data. The level of (137)Cs (mean value 1.6 ± 0.4 Bq m(-3)) in water filters was found to be in the same order of magnitude as reported by others in worldwide marine radioactivity studies. Results are also in agreement with values reported from other Gulf regions. The computed values of sediment-water distribution coefficients Kd, are lower than the values given by IAEA. Measurements were carried out for bottom sediments, biota samples like fish, oyster, sponge, seashell, mangrove, crab, shrimp, starfish, dugong and algae. The 'concentration factors' reported for biota samples are below the levels published by IAEA and cause no significant impact on human health for seafood consumers in Qatar. PMID:25480154

  17. Adequacy, accountability, autonomy and equity in a Middle Eastern school reform: The case of Qatar

    NASA Astrophysics Data System (ADS)

    Guarino, Cassandra M.; Tanner, Jeffery C.

    2012-04-01

    This study examines Qatar's recent and ambitious school reform in the early stages of its implementation against a set of four criteria for successful education systems drawn from guidelines developed by the international community: adequacy, accountability, autonomy and gender equity. We investigate both the initial structure of the reform and its sustainability in light of concerns that movements in these directions might be politically unfeasible. To some degree, these concerns are substantiated by the developments we trace. However, it is important to note that the reform has changed the landscape of primary and secondary education in Qatar and that many reform principles, though diluted, have been retained. This paper highlights lessons learned - both hopeful and cautionary - in the first few years of reform and presents a methodology for evaluating progress along key dimensions that can be applied to school systems in many nations.

  18. Prevalence of Online Reading among High School Students in Qatar: Evidence from the Programme for International Student Assessment 2009

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2014-01-01

    Recent research has suggested presence of a significant relationship between prevalence of online reading and reading literacy. In this study we examined the prevalence of online reading among 15-year old students in Qatar using a nationally representative sample of 8,089 students. Bivariate and multivariate analyses were conducted at the item and…

  19. Genetic studies in alcohol research

    SciTech Connect

    Karp, R.W.

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  20. The private-public literacy divide amid educational reform in Qatar: What does PISA tell us?

    NASA Astrophysics Data System (ADS)

    Cheema, Jehanzeb R.

    2015-04-01

    The education system in Qatar comprises of both private schools, which receive money through student fees, and public schools, which are fully government-funded. In the mid-2000s, Qatar started its transition towards an independent school model with the aim of eventually converting all public schools into government-supported independent schools. The idea was to give public schools more autonomy in terms of hiring decisions, adoption of curriculum and textbooks, and budget spending, enabling them to emulate some of the private schools' strategies for turning out successful students. This study examines evidence from the 2006-2012 administrations of the Program for International Student Assessment (PISA) in Qatar in order to evaluate whether or not recent educational reform efforts in this country have succeeded in bridging the literacy divide between private and public schools. The results, presented in a number of detailed tables and discussed in the last part of the article, indicate that there is a significant difference in key literacy skills between the two types of schools. Private schools were found to outperform their public counterparts in areas such as mathematics, reading and science, both before and after controlling for important student-level differences, and this gap has evidently persisted from 2006 to 2012.

  1. Qatar's School Transportation System: Supporting Safety, Efficiency, and Service Quality. Monograph

    ERIC Educational Resources Information Center

    Henry, Keith; Younossi, Obaid; Al-Dafa, Maryah; Culbertson, Shelly; Mattock, Michael G.; Light, Thomas; Rohr, Charlene

    2012-01-01

    In consideration of the many challenges associated with Qatar's continued growth and demographic changes, the government of Qatar is interested in updating its school transportation system (STS). This volume assesses the perspectives of parents and school administrators on Qatar's STS, identifies a vision and goals for the STS, reviews…

  2. An assessment of Qatar's coral communities in a regional context.

    PubMed

    Burt, John A; Smith, Edward G; Warren, Christopher; Dupont, Jennifer

    2016-04-30

    Qatar's once extensive coral communities have undergone considerable change in recent decades. We quantitatively surveyed three coral assemblages in Qatar to assess current status, and compared these against 14 sites in Bahrain and the United Arab Emirates to evaluate Qatar in a larger biogeographic context. Umm Al-Arshan had the highest species richness of 17 sites examined in the southern Arabian Gulf, as well as the highest coral cover and the only Acropora observed on sites in Qatar. Coral cover and richness were more modest at Fuwayrit and Al-Ashat, reflecting greater impacts from earlier stress events. Two distinct communities were identified across the southern Gulf, with Umm Al-Arshan clustering with high-cover, mixed merulinid/poritid assemblages that were less impacted by earlier bleaching and long-term stress, while Fuwayrit and Al-Ashat grouped with a lower-cover, stress-tolerant community characteristic of more extreme environments in the southern Gulf. We recommend implementation of a nation-wide baseline assessment of coral communities to guide development of an MPA network and long-term coral monitoring program for Qatar. PMID:26410180

  3. An assessment of Qatar's coral communities in a regional context.

    PubMed

    Burt, John A; Smith, Edward G; Warren, Christopher; Dupont, Jennifer

    2016-04-30

    Qatar's once extensive coral communities have undergone considerable change in recent decades. We quantitatively surveyed three coral assemblages in Qatar to assess current status, and compared these against 14 sites in Bahrain and the United Arab Emirates to evaluate Qatar in a larger biogeographic context. Umm Al-Arshan had the highest species richness of 17 sites examined in the southern Arabian Gulf, as well as the highest coral cover and the only Acropora observed on sites in Qatar. Coral cover and richness were more modest at Fuwayrit and Al-Ashat, reflecting greater impacts from earlier stress events. Two distinct communities were identified across the southern Gulf, with Umm Al-Arshan clustering with high-cover, mixed merulinid/poritid assemblages that were less impacted by earlier bleaching and long-term stress, while Fuwayrit and Al-Ashat grouped with a lower-cover, stress-tolerant community characteristic of more extreme environments in the southern Gulf. We recommend implementation of a nation-wide baseline assessment of coral communities to guide development of an MPA network and long-term coral monitoring program for Qatar.

  4. Oil slicks off the coast of Qatar, Persian Gulf

    NASA Technical Reports Server (NTRS)

    1983-01-01

    A detailed view the port facility of Musay'id on the Qatar Peninsula, United Arab Emirates, Persian Gulf (25.0N, 52.5E). Part of a large oil spill seen as a dark toned mass in the water, covering much of the surface of the western Persian Gulf, has moved offshore in this scene. Qatar is one of several of the oil rich United Arab Emirate states. Oil spills and oil pollution of the environment commonly occur in oil tanker operations.

  5. Sedimentary facies, mineralogy, and geochemistry of the sulphate-bearing Miocene Dam Formation in Qatar

    NASA Astrophysics Data System (ADS)

    Dill, H. G.; Botz, R.; Berner, Z.; Stüben, D.; Nasir, S.; Al-Saad, H.

    2005-01-01

    The Miocene deposits of the Dam Formation were deposited in a narrow seaway stretching along the western edge of the Qatar Arch. During the initial stages of basin evolution the rising Zagros Mts. delivered debris in this fore deep basin. The paleocurrent and paleogeographic zonation are reflected by the heavy mineral assemblage, by the spatial distribution of phyllosilicates and the various types of sulphate. From NW towards the SE, the contents of smectite and palygorskite increase, whereas the illite and kaolinite contents decrease. Mega crystals of gypsum are found in the NW and massive fine-grained gypsum in the SE of the basin. During the waning stages of basin subsidence, the Arabian Shield became more and more important as a source for the Miocene sediments. In this study, the Dam Formation was subdivided into 7 members/lithofacies associations (lower, middle, upper Salwa, and Al Nakhsh Members, Abu Samrah Member). The Salwa Members at the base of the Dam Formation consists of heterolithic siliciclastic-calcareous sediments which were laid down under meso- to microtidal conditions. The Al Nakhsh Members formed under macrotidal conditions with sub- to supratidal depositional environments passing into continental ones. Celestite, gypsum, and microbial mats (stromatolites) are very widespread in these sabkha sediments. Crystals of gypsum and the thickness of stromatolites tremendously increase towards younger sediments indicating thereby a close genetic link between growth of microbial domes and gypsum precipitation. Throughout the Abu Samrah Member marine calcareous sediments were deposited in a microtidal wave-dominated environment. Dissolution of Eocene evaporites at depth governed the lithofacies differentiation in the Miocene Dam Formation.

  6. A Perspective on Student Learning Outcome Assessment at Qatar University

    ERIC Educational Resources Information Center

    Al-Thani, Shaikha Jabor; Abdelmoneim, Ali; Daoud, Khaled; Cherif, Adel; Moukarzel, Dalal

    2014-01-01

    This paper provides a unique perspective on the student learning outcome assessment process as adopted and implemented at Qatar University from 2006 to 2012. The progress of the student learning outcome assessment and continuous improvement efforts at the university and the initiatives taken to establish a culture of assessment and evidence-based…

  7. Evaluation of pesticide residues of organochlorine in vegetables and fruits in Qatar: statistical analysis.

    PubMed

    Al-Shamary, Noora M; Al-Ghouti, Mohammad A; Al-Shaikh, Ismail; Al-Meer, Saeed H; Ahmad, Talaat A

    2016-03-01

    The study aimed to examine the residues of organochlorines pesticides (OCPs) in vegetables and fruits in Qatar. A total of 127 samples was studied. Ninety percent of the imported samples recorded residues above the maximum residue levels (MRLs). The most frequently detected OCP in the samples was heptachlor (found in 75 samples). In the comparisons between the washed and unwashed samples, no significant differences were observed (P > 0.05). However, the effect of washing process with tap water depended on the type of vegetables and fruits.

  8. Prevalence of dental caries among 12–14 year old children in Qatar

    PubMed Central

    Al-Darwish, Mohammed; El Ansari, Walid; Bener, Abdulbari

    2014-01-01

    Background To ensure the oral health of a population, clinicians must deliver appropriate dental services, and local communities need to have access to dental care facilities. However, establishment of this infrastructure must be based on reliable information regarding disease prevalence and severity in the target population. Objectives The aims of this study were to measure the incidence of dental caries in school children aged 12–14 throughout Qatar, including the influence of socio-demographic factors. Materials and methods A cross-sectional study was conducted in Qatar from October 2011 to March 2012. A total of 2113 children aged 12–14 were randomly selected from 16 schools located in different geographic areas. Three calibrated examiners using World Health Organization (WHO) criteria to diagnose dental caries performed the clinical examinations. Data analyses were subsequently conducted. Results The mean decayed, missing, and filled teeth index values were respectively 4.62 (±3.2), 4.79 (±3.5), and 5.5 (±3.7), for 12, 13, and 14 year-old subjects. Caries prevalence was 85%. The mandibular incisors and canines were least affected by dental caries, while maxillary and mandibular molars exhibited the highest incidence of dental caries. Dental caries were affected by socio-demographic factors; significant differences were detected between female and male children, where more female children showed dental caries than male children. In addition, children residing in semi-urban areas showed more dental caries than in urban areas. Conclusion Results indicated that dental caries prevalence among school children in Qatar has reached critical levels, and is influenced by socio-demographic factors. The mean decayed, missing, and filled teeth values obtained in this study were the second highest detected in the Eastern Mediterranean region. PMID:25057232

  9. Emergence of multidrug-resistant Acinetobacter baumannii producing OXA-23 Carbapenemase in Qatar

    PubMed Central

    Rolain, J.-M.; Loucif, L.; Al-Maslamani, M.; Elmagboul, E.; Al-Ansari, N.; Taj-Aldeen, S.; Shaukat, A.; Ahmedullah, H.; Hamed, M.

    2016-01-01

    The objective of our study was to describe the molecular support of carbapenem resistance from randomly selected clinical isolates of multidrug-resistant (MDR) Acinetobacter baumannii as a pilot study from the Hamad Medical Corporation (HMC), Qatar. Results of our report will be used to study carbapenemases using molecular techniques in all isolated MDR A. baumannii. Forty-eight MDR A. baumannii were randomly selected from isolates preserved at HMC. Identification of all isolates was confirmed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Antibiotic resistance was tested phenotypically by Phoenix and confirmed by Etest. The molecular support of carbapenemases (blaOXA-23, blaOXA-24, blaOXA-58, blaNDM) was investigated by real-time PCR. The epidemiologic relatedness of the isolates was verified by phylogenetic analysis based on partial sequences of CsuE and blaOXA-51 genes. All 48 isolates were identified as A. baumannii and were confirmed to be resistant to most antibiotics, especially meropenem, imipenems, ciprofloxacin, levofloxacin, amikacin, gentamicin and most of the β-lactams; they were sensitive to colistin. All the isolates were positive for blaOXA-23 and negative for the other tested carbapenemase genes. Clonality analysis demonstrated that different lineages were actually circulating in Qatar; and we suggest that an outbreak occurred in the medical intensive care unit of HMC between 2011 and 2012. Here we report the emergence of MDR A. baumannii producing the carbapenemase OXA-23 in Qatar. PMID:27054039

  10. Study Identifies Genetic Subtypes of Crohn's Disease

    MedlinePlus

    ... medlineplus.gov/news/fullstory_161499.html Study Identifies Genetic Subtypes of Crohn's Disease Findings may help explain ... disease appears to have at least two distinct genetic subtypes, which could explain why the condition is ...

  11. Studies in genetic discrimination. Final progress report

    SciTech Connect

    Not Available

    1994-06-01

    We have screened 1006 respondents in a study of genetic discrimination. Analysis of these responses has produced evidence of the range of institutions engaged in genetic discrimination and demonstrates the impact of this discrimination on the respondents to the study. We have found that both ignorance and policy underlie genetic discrimination and that anti-discrimination laws are being violated.

  12. Oral health knowledge, behaviour and practices among school children in Qatar

    PubMed Central

    Al-Darwish, Mohammed Sultan

    2016-01-01

    Background: The aim of this study was to assess the oral health knowledge behaviour and practices among school children in Qatar. Materials and Methods: A cross-sectional study was carried out in Qatar from October 2011 to April 2012. A total of 2200 school children aged 12–14 years were approached from 16 schools of different areas. The information about oral health knowledge and sources of information was obtained through a self-administrated questionnaire. Data analyses were performed. Results: The overall response rate was (96%). Only (25.8%) of children reported a high level of oral health knowledge. After each meal, tooth brushing was observed by a very low percentage of children (3.7%). About 44.6% of children recognized dental floss as a cleaning device for between the teeth. A large number of children (32.5%) thought incorrectly that one must visit the dentist only in case of pain. A great majority was not aware of cariogenic potential of soft drinks (39%) and sweetened milk (97.8%). Less than half (38.9%) of children actually had heard about fluoride. Only (16.8%) correctly answered the question about sign of tooth decay. Slightly, less than half (48.4%) could not define the meaning of plaque. Parents were the most popular (69.1%), source of oral health information for the children. Conclusion: The oral health knowledge in Qatar is below the satisfactory level. Parents were the most popular source of oral health knowledge for the children followed by dentists, school teachers, and media. PMID:27605993

  13. The Driver Behaviour Questionnaire in Arab Gulf countries: Qatar and United Arab Emirates.

    PubMed

    Bener, Abdulbari; Ozkan, Türker; Lajunen, Timo

    2008-07-01

    Manchester Driver Behaviour Questionnaire (DBQ) is one of the most widely used instruments for measuring self-reported driving style and investigating the relationship between driving behaviour and accident involvement. In spite of the fact that Arab Gulf countries have a higher road accident fatality rate compared to European countries and USA, the DBQ has not been used in Arab countries so far. The aim of the present study was to investigate the factor structure of the DBQ, then to examine the relationships between the factors of the DBQ and accident involvement, and finally to compare DBQ scores between the two gulf countries: Qatar and United Arab Emirates (UAE). In this study, 1110 Qatari (263 females and 847 males) and 1286 UAE drivers (294 females and 992 males) filled a survey questionnaire including the DBQ and background information. The results showed that UAE drivers scored higher on almost all DBQ items than Qatari drivers. Surprisingly, only very small differences between men and women on the DBQ item scores were found in UAE. Factor analysis resulted in four factors, which were named as errors, pushing-speeding violations, lapses, and aggression-speeding violations. However, there were a number of differences in the factor structure of the DBQ in UAE and Qatar when compared to the theoretical four-factor structure of the DBQ. Reliabilities of some subscales were also questionably lower than in the original British data. Logistic regression analyses showed that errors, lapses, and aggression-speeding violations predicted accident involvement in Qatar but not in UAE after controlling the effect of the demographic variables (age, sex, and annual mileage).

  14. Oral health knowledge, behaviour and practices among school children in Qatar

    PubMed Central

    Al-Darwish, Mohammed Sultan

    2016-01-01

    Background: The aim of this study was to assess the oral health knowledge behaviour and practices among school children in Qatar. Materials and Methods: A cross-sectional study was carried out in Qatar from October 2011 to April 2012. A total of 2200 school children aged 12–14 years were approached from 16 schools of different areas. The information about oral health knowledge and sources of information was obtained through a self-administrated questionnaire. Data analyses were performed. Results: The overall response rate was (96%). Only (25.8%) of children reported a high level of oral health knowledge. After each meal, tooth brushing was observed by a very low percentage of children (3.7%). About 44.6% of children recognized dental floss as a cleaning device for between the teeth. A large number of children (32.5%) thought incorrectly that one must visit the dentist only in case of pain. A great majority was not aware of cariogenic potential of soft drinks (39%) and sweetened milk (97.8%). Less than half (38.9%) of children actually had heard about fluoride. Only (16.8%) correctly answered the question about sign of tooth decay. Slightly, less than half (48.4%) could not define the meaning of plaque. Parents were the most popular (69.1%), source of oral health information for the children. Conclusion: The oral health knowledge in Qatar is below the satisfactory level. Parents were the most popular source of oral health knowledge for the children followed by dentists, school teachers, and media.

  15. Physician perceptions of pharmacist roles in a primary care setting in Qatar

    PubMed Central

    2012-01-01

    Purpose Pharmacists are uniquely trained to provide guidance to patients in the selection of appropriate non-prescription therapy. Physicians in Qatar may not always recognize how pharmacists function in assuring safe medication use. Both these health professional groups come from heterogeneous training and experiences before migrating to the country and these backgrounds could influence collaborative patient care. Qatar Petroleum (QP), the largest private employer in the country, has developed a pharmacist-guided medication consulting service at their primary care clinics, but physician comfort with pharmacists recommending drug therapy is currently unknown. The objective of this study is to characterize physician perceptions of pharmacists and their roles in a primary care patient setting in Qatar. Methods This cross-sectional survey was developed following a comprehensive literature review and administered in English and Arabic. Consenting QP physicians were asked questions to assess experiences, comfort and expectations of pharmacist roles and abilities to provide medication-related advice and recommend and monitor therapies. Results The median age of the 62 (77.5%) physicians who responded was between 40 and 50 years old and almost two-third were men (64.5%). Fourteen different nationalities were represented. Physicians were more comfortable with pharmacist activities closely linked to drug products than responsibilities associated with monitoring and optimization of patient outcomes. Medication education (96.6%) and drug knowledge (90%) were practically unanimously recognized as abilities expected of pharmacists, but consultative roles, such as assisting in drug regimen design were less acknowledged. They proposed pharmacist spend more time with physicians attending joint meetings or education events to help advance acceptance of pharmacists in patient-centered care at this site. Conclusions Physicians had low comfort and expectations of patient

  16. Twenty years of sedimentary change and diagenesis, Qatar Peninsula, Arabian Gulf

    SciTech Connect

    Shinn, E.A.

    1988-02-01

    Re-examination in February 1986 of areas studied by the author in 1966 and 1967 revealed rapid rates of sedimentation and diagenesis along the east coast of the Qatar Peninsula. At Ras Um Sa on the north-east side of Qatar, a series of chenier-like beaches and curved spits is building southward under the influence of longshore currents. Beach and spit growth increasingly protects the shoreline and allows tidal flats to form in their lee. As these spits accrete, they become armored on their lagoonal side by beachrock formation. In the last 20 years a spit approximately 1/2 km long has grown, and beachrock has already armored its recurved lagoonal side. At Umm Said on the southeast side of Qatar, seawardly accreting barchan dunes composed of quartz sand have built a 40-km long, 10-km wide sabkha as thick as 30 m. Aerial and ground photographs show that certain dunes near the seaward edge of the sabkha have migrated into the sea and have contributed to shoreline accretion. The observed rate of dune migration suggests that within approximately 100 years the remaining quartz sands will be depleted and blown into the sea because there is no replenishment of the dune field. Subsequently, the area will revert to one of carbonate deposition. Fine-grained dolomite is presently precipitating in interstitial brines in the landwardmost portions of this unusual sabkha. In the geologic record, such a deposit would be an anomalous, porous and permeable, cross-bedded, linear, 30-m thick, dolomite-cemented sandstone body encased in carbonate sediments. A modern model such as the one at Umm Said can provide useful clues for determining the origin of similar deposits in ancient rocks.

  17. Genetic studies in primary gout

    PubMed Central

    Alvsaker, J. O.

    1968-01-01

    The plasma levels of the urate-binding α1-α2-globulin, as determined by its urate-binding capacity, have been recorded in 19 individuals from two gouty kindreds. A significantly reduced binding capacity, accounting for 13-30% of the mean value obtained in healthy, unrelated control subjects, was found in all cases of gout and in the single case of essential hyperuricemia included in the present study. In addition, six apparently healthy members of one of these kindreds also exhibited this characteristic. The distribution of the characteristic in three subsequent generations from this kindred further supported the hypothesis that the reduced binding capacity was inherited as an autosomal trait for which affected subjects were heterozygous. Based on the present observation, the mechanisms of inheritance in primary gout are discussed with special emphasis on the possible cooperation of genetic and environmental factors. Images PMID:4172458

  18. Joining the nursing profession in Qatar: motives and perceptions.

    PubMed

    Okasha, M S; Ziady, H H

    2001-11-01

    We aimed to identify why female students in Qatar decide to become nurses and how the students perceived the community attitude towards nursing. A self-administered anonymous questionnaire was distributed to all (57) female students of the four academic classes of the Nursing Unit, University of Qatar for the academic year 1999-2000. The two commonest reasons for joining the nursing profession were an interest in medical services and the humanitarian nature of nursing. There were 33 (57.89%) students who considered there was a negative community attitude towards nursing mainly due to the presence of male patients and colleagues and the working hours. A mass media campaign and govemmental support were two strategies suggested to change this. PMID:15332745

  19. Joining the nursing profession in Qatar: motives and perceptions.

    PubMed

    Okasha, M S; Ziady, H H

    2001-11-01

    We aimed to identify why female students in Qatar decide to become nurses and how the students perceived the community attitude towards nursing. A self-administered anonymous questionnaire was distributed to all (57) female students of the four academic classes of the Nursing Unit, University of Qatar for the academic year 1999-2000. The two commonest reasons for joining the nursing profession were an interest in medical services and the humanitarian nature of nursing. There were 33 (57.89%) students who considered there was a negative community attitude towards nursing mainly due to the presence of male patients and colleagues and the working hours. A mass media campaign and govemmental support were two strategies suggested to change this.

  20. Traffic-related pedestrian injuries amongst expatriate workers in Qatar: a need for cross-cultural injury prevention programme.

    PubMed

    Latifi, Rifat; El-Menyar, Ayman; Al-Thani, Hassan; Zarour, Ahmad; Parchani, Ashok; Abdulrahman, Husham; Asim, Mohammad; Peralta, Ruben; Consunji, Rafael

    2015-01-01

    Qatar is a rapidly developing country in which expatriate workers constitute the majority of population. Also, Qatar is an example of right-sided road driving convention (RDC) country. The aim of our study is to analyse the traffic-related pedestrian injuries (TRPI) amongst expatriates in relation to RDC. A retrospective analysis of prospectively collected data of TRPI patients who were admitted to the only Level I trauma centre in Qatar between 2009 and 2011 was performed. Demographics, country of origin, time of injury, injury severity score (ISS), RDC, morbidity and mortality were analysed. Of the 4997 injured patients, 601 (12%) were pedestrians. Of these, 92% were expatriates. The mean age was 31.8 ± 17 and 64% of them were 18-45 years old. Mean ISS was higher in those who were injured on weekends (15.4 ± 10) in comparison to working days (13.5 ± 10) (p = 0.04). The overall mortality was 15%. Sixty-seven percent of those who died were from left RDC countries. Expatriate workers, originally from left RDC countries are disproportionately affected by TRPI. This group of injured patients requires focused injury prevention programmes that are culture and language appropriate.

  1. Traffic-related pedestrian injuries amongst expatriate workers in Qatar: a need for cross-cultural injury prevention programme.

    PubMed

    Latifi, Rifat; El-Menyar, Ayman; Al-Thani, Hassan; Zarour, Ahmad; Parchani, Ashok; Abdulrahman, Husham; Asim, Mohammad; Peralta, Ruben; Consunji, Rafael

    2015-01-01

    Qatar is a rapidly developing country in which expatriate workers constitute the majority of population. Also, Qatar is an example of right-sided road driving convention (RDC) country. The aim of our study is to analyse the traffic-related pedestrian injuries (TRPI) amongst expatriates in relation to RDC. A retrospective analysis of prospectively collected data of TRPI patients who were admitted to the only Level I trauma centre in Qatar between 2009 and 2011 was performed. Demographics, country of origin, time of injury, injury severity score (ISS), RDC, morbidity and mortality were analysed. Of the 4997 injured patients, 601 (12%) were pedestrians. Of these, 92% were expatriates. The mean age was 31.8 ± 17 and 64% of them were 18-45 years old. Mean ISS was higher in those who were injured on weekends (15.4 ± 10) in comparison to working days (13.5 ± 10) (p = 0.04). The overall mortality was 15%. Sixty-seven percent of those who died were from left RDC countries. Expatriate workers, originally from left RDC countries are disproportionately affected by TRPI. This group of injured patients requires focused injury prevention programmes that are culture and language appropriate. PMID:24392875

  2. Objective structured clinical examination for pharmacy students in Qatar: cultural and contextual barriers to assessment.

    PubMed

    Wilby, K J; Black, E K; Austin, Z; Mukhalalati, B; Aboulsoud, S; Khalifa, S I

    2016-07-10

    This study aimed to evaluate the feasibility and psychometric defensibility of implementing a comprehensive objective structured clinical examination (OSCE) on the complete pharmacy programme for pharmacy students in a Middle Eastern context, and to identify facilitators and barriers to implementation within new settings. Eight cases were developed, validated, and had standards set according to a blueprint, and were assessed with graduating pharmacy students. Assessor reliability was evaluated using inter-class coefficients (ICCs). Concurrent validity was evaluated by comparing OSCE results to professional skills course grades. Field notes were maintained to generate recommendations for implementation in other contexts. The examination pass mark was 424 points out of 700 (60.6%). All 23 participants passed. Mean performance was 74.6%. Low to moderate inter-rater reliability was obtained for analytical and global components (average ICC 0.77 and 0.48, respectively). In conclusion, OSCE was feasible in Qatar but context-related validity and reliability concerns must be addressed prior to future iterations in Qatar and elsewhere.

  3. Characteristics and determinants of adult patients with acute poisoning attending the accident and emergency department of a teaching hospital in Qatar.

    PubMed

    Khudair, I F; Jassim, Z; Hanssens, Y; Alsaad, W A

    2013-09-01

    Data about etiologic and demographic characteristics of acute poisoning in adults in Qatar are lacking. This prospective observational study was undertaken to analyze characteristics and possible determinants of acute poisoning in adults in Qatar. During 2010, 18,073 patients attended the emergency department of Hamad General Hospital, a teaching hospital in Qatar. Out of them, 599 (3.3%) patients were diagnosed as "poisoning case" with either chemical or pharmaceutical substances. The prevalence rate of poisoning incidence was 35.3/100,000 population. Seven patients died, corresponding with a case-fatality rate of 0.39/1000. The majority were male (65%) and the mean age was 34 years. The poisons involved were mainly chemicals (61.6%) and pharmaceuticals (38.4%). Female, mainly single, suffered more intentional poisoning compared to male. Of the patients aged 60 years and above (7.2%), the majority (95.3%) suffered unintentional poisoning with pharmaceuticals; 56% with warfarin, 12% with digoxin and 7% with insulin. Multivariate analysis shows that female gender, single status, younger than 35 years of age, being poisoned by pharmaceutical products, and the need for hospitalization are significant determinants for acute intentional poisoning after adjusting all other possible covariates. The findings of this study can be used to establish awareness and prophylactic campaigns in Qatar.

  4. Education for a New Era: Design and Implementation of K-12 Education Reform in Qatar. Monograph

    ERIC Educational Resources Information Center

    Brewer, Dominic J.; Augustine, Catherine H.; Zellman, Gail L.; Ryan, Gery; Goldman, Charles A.; Stasz, Cathleen; Constant, Louay

    2007-01-01

    The leadership of Qatar has a social and political vision that calls for improving the outcomes of the Qatari K-12 education system. With this vision in mind, the leadership asked RAND to examine Qatar's K-12 education system, to recommend options for building a world-class system, and, subsequently, to develop the chosen option and support its…

  5. The Private-Public Literacy Divide amid Educational Reform in Qatar: What Does PISA Tell Us?

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2015-01-01

    The education system in Qatar comprises of both private schools, which receive money through student fees, and public schools, which are fully government-funded. In the mid-2000s, Qatar started its transition towards an independent school model with the aim of eventually converting all public schools into government-supported independent schools.…

  6. Small Steps Lead to Quality Assurance and Enhancement in Qatar University

    ERIC Educational Resources Information Center

    Al Attiyah, Asma; Khalifa, Batoul

    2009-01-01

    This paper presents a brief overview of Qatar University's history since it was started in 1973. Its primary focus is on the various small, but important, steps taken by the University to address the needs of quality assurance and enhancement. The Qatar University Reform Plan is described in detail. Its aims are to continually improve the quality…

  7. The Migrant Effect: An Evaluation of Native Academic Performance in Qatar

    ERIC Educational Resources Information Center

    Cheema, Jehanzeb R.

    2014-01-01

    Recent data have suggested that despite massive outlays on educational reform Qatar consistently ranks as one of the least academically proficient countries in key areas of literacy. Of the seventy-four countries that participated in PISA 2009 Qatar ranked between sixty-seven and sixty-nine in mathematics, reading and science literacy. Although…

  8. Characterizing the ADHD Phenotype for Genetic Studies

    ERIC Educational Resources Information Center

    Stevenson, Jim; Asherson, Phil; Hay, David; Levy, Florence; Swanson, Jim; Thapar, Anita; Willcutt, Erik

    2005-01-01

    The genetic study of ADHD has made considerable progress. Further developments in the field will be reliant in part on identifying the most appropriate phenotypes for genetic analysis. The use of both categorical and dimensional measures of symptoms related to ADHD has been productive. The use of multiple reporters is a valuable feature of the…

  9. Reexamination of the relationship between the prevalence of hepatitis C virus and parenteral antischistosomal therapy among Egyptians resident in Qatar

    PubMed Central

    Derbala, Moutaz; Chandra, Prem; Amer, Aliaa; John, Anil; Sharma, Manik; Amin, Ashraf; Thandassery, Ragesh Babu; Faris, Amr

    2014-01-01

    Egypt has the highest prevalence of recorded hepatitis C virus (HCV) worldwide, estimated nationally at 14.7%, which is attributed to extensive iatrogenic transmission during the era of parenteral antischistosomal therapy (PAT) mass-treatment campaigns. The objective of our study was to attempt to highlight to what extent HCV transmission is ongoing and discuss the possible risk factors. We studied the prevalence of HCV among 7.8% of Egyptians resident in Qatar in relation to age, socioeconomic status, and PAT and discuss the possible risk factors. HCV testing was conducted in 2,335 participants, and results were positive for 13.5%, and 8.5% for those aged below 35 years. The prevalence of HCV in the PAT-positive population was 23.7% (123 of 518, 95% confidence interval [CI] 20.2%–27.6%) compared with 11.2% in the PAT-negative group. Significantly higher HCV prevalence occurred in participants who were older than 50 years (23%, 95% CI 19.3%–27.1%) compared to those aged 45–50 years (19.3%, 95% CI 15.2%–23.8%), 35–45 years (11.1%, 95% CI 8.9%–13.7%), and less than 35 years (8.5%, 95% CI 6.8%–10.4%) (P<0.0001). Insignificant higher prevalence occurred in the low socioeconomic group (14.2%, 95% CI 11.3%–17.4%). Logistic regression analysis revealed that increasing age, history of PAT, bilharziasis, and praziquantel were common risk factors, but there was no relation with dental care. Host genetic predisposition seems to be a plausible underlying factor for susceptibility among Egyptians and intense ongoing infection. PMID:25395869

  10. Contributions of genetic studies to clinical psychiatry.

    PubMed

    Abe, K; Oda, N

    1991-12-01

    Recent twin and family studies have demonstrated a genetic factor in Gilles de la Tourette syndrome, some cases of infantile autism, enuresis, specific reading disability, sleepwalking, night terrors, common fears and anxiety. Family studies have been used to elucidate the nosological relationship of psychiatric disorders; e.g. anorexia nervosa (to affective disorder), Gilles de la Tourette syndrome, and sleeptalking. Advances in biochemical genetics and in enzyme polymorphisms suggest that there are wide individual variations in the adverse effects of drugs and that dosage should be tailored to the individual patient. Recently molecular genetic methods have been introduced to psychiatry, but a major breakthrough in this field appears to be still years away.

  11. Genetic and molecular genetic studies of murine and human lupus.

    PubMed

    Steinberg, A D; Klinman, D M; Kastner, D L; Seldin, M F; Gause, W C; Scribner, C L; Britten, J L; Siegel, J N; Mountz, J D

    1987-06-01

    Mice and humans with systemic lupus erythematosus (SLE) have been studied with regard to cellular, genetic and molecular genetic abnormalities. B cell hyperactivity and autoantibody production are the hallmarks of this illness. In humans with SLE, there is increased stem cell, B cell precursor and B cell proliferation. The same is true of NZB mice. In lpr/lpr and gld/gld mice, marked expansion of a subpopulation of T cells allows extrathymic terminal T cell maturation and secondary B cell hyperactivity. Androgens suppress these processes and polyclonal immune activators accelerate them. Three types of genes are identified: inducing genes, accelerating genes and background genes. These give rise to abnormal expression of various cellular oncogenes, T cell receptor genes and immunoglobulin genes. The data suggest that abnormal immune regulation plays a critical role in the development of SLE, with polyclonal B cell activation being common to both mice and humans with SLE. Different genetic and cellular abnormalities underlie the ultimate syndrome, the common denominator, generalized autoimmunity, that we call SLE.

  12. Australian empirical study into genetic discrimination.

    PubMed

    Otlowski, Margaret F; Taylor, Sandra D; Barlow-Stewart, Kristine K

    2002-01-01

    This paper outlines a major empirical study that is being undertaken by an interdisciplinary team into genetic discrimination in Australia. The 3-year study will examine the nature and extent of this newly emerging phenomenon across the perspectives of consumers, third parties, and the legal system and will analyze its social and legal dimensions. Although the project is confined to Australia, it is expected that the outcomes will have significance for the wider research community as this is the most substantial study of its kind to be undertaken to date into genetic discrimination. PMID:12394353

  13. Procedures of recruiting, obtaining informed consent, and compensating research participants in Qatar: findings from a qualitative investigation

    PubMed Central

    2014-01-01

    Background Very few researchers have reported on procedures of recruiting, obtaining informed consent, and compensating participants in health research in the Arabian Gulf Region. Empirical research can inform the debate about whether to adjust these procedures for culturally diverse settings. Our objective was to delineate procedures related to recruiting, obtaining informed consent, and compensating health research participants in the extremely high-density multicultural setting of Qatar. Methods During a multistage mixed methods project, field observations and qualitative interviews were conducted in a general medicine clinic of a major medical center in Qatar. Participants were chosen based on gender, age, literacy, and preferred language, i.e., Arabic, English, Hindi and Urdu. Qualitative analysis identified themes about recruitment, informed consent, compensation, and other research procedures. Results A total of 153 individuals were approached and 84 enrolled; the latter showed a diverse age range (18 to 75 years); varied language representation: Arabic (n = 24), English (n = 20), Hindi (n = 20), and Urdu (n = 20); and balanced gender distribution: women (n = 43) and men (n = 41). Primary reasons for 30 declinations included concern about interview length and recording. The study achieved a 74% participation rate. Qualitative analytics revealed key themes about hesitation to participate, decisions about participation with family members as well as discussions with them as “incidental research participants”, the informed consent process, privacy and gender rules of the interview environment, reactions to member checking and compensation, and motivation for participating. Vulnerability emerged as a recurring issue throughout the process among a minority of participants. Conclusions This study from Qatar is the first to provide empirical data on recruitment, informed consent, compensation and other research procedures in a general

  14. Influenza immunization coverage for healthcare workers in a community hospital in Qatar (2011-2012 and 2012-2013 seasons).

    PubMed

    Garcell, Humberto Guanche; Ramirez, Eduardo Crespo

    2014-02-01

    Influenza vaccination is recommended for all healthcare workers (HCW) to prevent transmission within healthcare facilities. We conducted a descriptive study on influenza vaccination coverage during 2011-2012 and 2012-2013 campaigns in a community hospital in Qatar. 61.7% of the HCW were immunized in the first campaign, with an increase of up to 71.1% (p<0.05) in the second one, which was mainly due to better compliance of doctors (46.9% and 69.2%, respectively). Our results show proper coverage rates according US standards and highlight the need to implement additional strategies to improve health workers adherence of influenza, vaccination.

  15. Evaluation of the atmospheric model WRF on the Qatar peninsula for a converging sea-breeze event

    NASA Astrophysics Data System (ADS)

    Balan Sobhana, Sandeepan; Nayak, Sashikant; Panchang, Vijay

    2016-04-01

    Qatar, a narrow peninsula covering an area of 11437 sq km, extends northwards into the Arabian Gulf for about 160km and has a maximum width of 88km. The convex shape of the coast-line and narrowness of the peninsula results in the Qatar region experiencing complex wind patterns. The geometry is favorable for formation of the land-sea breeze from both coastal sides of the peninsula. This can lead to the development of sea breeze convergence zones in the middle of the country. Although circulations arising from diurnal thermal contrast of land and water are amongst most intensively studied meteorological phenomena, there is no reported study for the Qatar peninsula and very few studies are reported for the Arabian Gulf region as whole. It is necessary to characterize the wind field for applications such as assessing air pollution, renewable energy etc. A non-hydrostatic mesoscale model, Weather Research and Forecast (WRF) with a nested high resolution grid permits the investigation of such fine scale phenomena. Data from eighteen land based Automated Weather Stations (AWS) and two offshore buoys deployed and maintained by the Qatar Meteorological Department were analyzed. Based on the analysis a clear case of sea breeze convergence were seen on 18 September 2015. Model simulations were used to investigate the synoptic conditions associated with the formation of this event. The season is characterized by week ambient north westerly wind over the Arabian Gulf. The WRF model performance is validated using observed in-situ data. Model simulations show that vertical extent of sea breeze cell was up to 1 km and the converging sea breeze regions were characterized with high vertical velocities. The WRF simulation also revealed that with high resolution, the model is capable of reproducing the fine scale patterns accurately. The error of predictions in the inner domain (highest resolution) are found to be relatively lower than coarse resolution domain. The maximum wind speed

  16. The future for genetic studies in reproduction

    PubMed Central

    Montgomery, G.W.; Zondervan, K.T.; Nyholt, D.R.

    2014-01-01

    Genetic factors contribute to risk of many common diseases affecting reproduction and fertility. In recent years, methods for genome-wide association studies (GWAS) have revolutionized gene discovery for common traits and diseases. Results of GWAS are documented in the Catalog of Published Genome-Wide Association Studies at the National Human Genome Research Institute and report over 70 publications for 32 traits and diseases associated with reproduction. These include endometriosis, uterine fibroids, age at menarche and age at menopause. Results that pass appropriate stringent levels of significance are generally well replicated in independent studies. Examples of genetic variation affecting twinning rate, infertility, endometriosis and age at menarche demonstrate that the spectrum of disease-related variants for reproductive traits is similar to most other common diseases. GWAS ‘hits’ provide novel insights into biological pathways and the translational value of these studies lies in discovery of novel gene targets for biomarkers, drug development and greater understanding of environmental factors contributing to disease risk. Results also show that genetic data can help define sub-types of disease and co-morbidity with other traits and diseases. To date, many studies on reproductive traits have used relatively small samples. Future genetic marker studies in large samples with detailed phenotypic and clinical information will yield new insights into disease risk, disease classification and co-morbidity for many diseases associated with reproduction and infertility. PMID:23982303

  17. Genetic studies in the Amish community.

    PubMed

    Patton, Michael A

    2005-01-01

    The Amish community was established in Pennsylvania, Ohio and Indiana. They form a distinct and biologically isolated community by virtue of their strong cultural and religious beliefs. This paper outlines aspects of the Amish culture and reviews some of the recent genetic studies that have been undertaken in this community. PMID:16096212

  18. Investigating chlorophyll and nitrogen levels of mangroves at Al-Khor, Qatar: an integrated chemical analysis and remote sensing approach.

    PubMed

    Al-Naimi, Noora; Al-Ghouti, Mohammad A; Balakrishnan, Perumal

    2016-05-01

    Mangroves are unique ecosystems that dominate tropical and subtropical coastlines around the world. They provide shelter and nursery to wide variety of species such as fish and birds. Around 73 species of mangroves were recognized around the world. In Qatar, there is only one mangrove species Avicennia marina that is predominant along the northeastern coast. Assessing the health of these valuable ecosystems is vital for protection, management, and conservation of those resources. In this study, an integrated approach of chemical and remote sensing analysis was implemented to investigate the current status of the mangrove trees in Al-Khor, Qatar. Fifteen different A. marina trees from different locations in the mangrove forest were examined for their chlorophyll and nitrogen content levels. Soil analysis was also conducted to understand the effect of moisture on nitrogen availability. Results shows that currently, mangroves are in a good status in terms of nitrogen availability and chlorophyll levels which are related and both are key factors for photosynthesis. Remote sensing techniques were used for chlorophyll prediction. The results showed that these methods have the potential to be used for chlorophyll prediction and estimation. PMID:27048493

  19. Investigating chlorophyll and nitrogen levels of mangroves at Al-Khor, Qatar: an integrated chemical analysis and remote sensing approach.

    PubMed

    Al-Naimi, Noora; Al-Ghouti, Mohammad A; Balakrishnan, Perumal

    2016-05-01

    Mangroves are unique ecosystems that dominate tropical and subtropical coastlines around the world. They provide shelter and nursery to wide variety of species such as fish and birds. Around 73 species of mangroves were recognized around the world. In Qatar, there is only one mangrove species Avicennia marina that is predominant along the northeastern coast. Assessing the health of these valuable ecosystems is vital for protection, management, and conservation of those resources. In this study, an integrated approach of chemical and remote sensing analysis was implemented to investigate the current status of the mangrove trees in Al-Khor, Qatar. Fifteen different A. marina trees from different locations in the mangrove forest were examined for their chlorophyll and nitrogen content levels. Soil analysis was also conducted to understand the effect of moisture on nitrogen availability. Results shows that currently, mangroves are in a good status in terms of nitrogen availability and chlorophyll levels which are related and both are key factors for photosynthesis. Remote sensing techniques were used for chlorophyll prediction. The results showed that these methods have the potential to be used for chlorophyll prediction and estimation.

  20. Getting Its Ducks in a Row? Qatar Foundation's Agreement with HEC Paris and the Launch of the Qatar Foundation Management, Education and Research Centre

    ERIC Educational Resources Information Center

    Observatory on Borderless Higher Education, 2010

    2010-01-01

    Last week, private, non-profit organisation the Qatar Foundation (QF) announced a partnership agreement with French business institution HEC Paris to offer executive education programmes. According to the terms of the agreement, a full-time faculty will provide executive and short certificate programmes and corporate-specific training, including…

  1. Prevalence of microplastics in the marine waters of Qatar.

    PubMed

    Castillo, Azenith B; Al-Maslamani, Ibrahim; Obbard, Jeffrey Philip

    2016-10-15

    Microplastics are firmly recognized as a ubiquitous and growing threat to marine biota and their associated marine habitats worldwide. The evidence of the prevalence of microplastics was documented for the first time in the marine waters of Qatar's Exclusive Economic Zone (EEZ). An optimized and validated protocol was developed for the extraction of microplastics from plankton-rich seawater samples without loss of microplastic debris present and characterized using Attenuated Total Reflectance-Fourier Transform Infrared spectroscopy. In total 30 microplastic polymers have been identified with an average concentration of 0.71particlesm(-3) (range 0-3particlesm(-3)). Polypropylene, low density polyethylene, polyethylene, polystyrene, polyamide, polymethyl methacrylate, cellophane, and acrylonitrile butadiene styrene polymers were characterized with majority of the microplastics either granular shape, sizes ranging from 125μm to 1.82mm or fibrous with sizes from 150μm to 15.98mm. The microplastics are evident in areas where nearby anthropogenic activities, including oil-rig installations and shipping operations are present. PMID:27389452

  2. Prevalence of microplastics in the marine waters of Qatar.

    PubMed

    Castillo, Azenith B; Al-Maslamani, Ibrahim; Obbard, Jeffrey Philip

    2016-10-15

    Microplastics are firmly recognized as a ubiquitous and growing threat to marine biota and their associated marine habitats worldwide. The evidence of the prevalence of microplastics was documented for the first time in the marine waters of Qatar's Exclusive Economic Zone (EEZ). An optimized and validated protocol was developed for the extraction of microplastics from plankton-rich seawater samples without loss of microplastic debris present and characterized using Attenuated Total Reflectance-Fourier Transform Infrared spectroscopy. In total 30 microplastic polymers have been identified with an average concentration of 0.71particlesm(-3) (range 0-3particlesm(-3)). Polypropylene, low density polyethylene, polyethylene, polystyrene, polyamide, polymethyl methacrylate, cellophane, and acrylonitrile butadiene styrene polymers were characterized with majority of the microplastics either granular shape, sizes ranging from 125μm to 1.82mm or fibrous with sizes from 150μm to 15.98mm. The microplastics are evident in areas where nearby anthropogenic activities, including oil-rig installations and shipping operations are present.

  3. Projected changes in climate extremes over Qatar and the Arabian Gulf region

    NASA Astrophysics Data System (ADS)

    Kundeti, K.; Kanikicharla, K. K.; Al sulaiti, M.; Khulaifi, M.; Alboinin, N.; Kito, A.

    2015-12-01

    The climate of the State of Qatar and the adjacent region is dominated by subtropical dry, hot desert climate with low annual rainfall, very high temperatures in summer and a big difference between maximum and minimum temperatures, especially in the inland areas. The coastal areas are influenced by the Arabian Gulf, and have lower maximum, but higher minimum temperatures and a higher moisture percentage in the air. The global warming can have profound impact on the mean climate as well as extreme weather events over the Arabian Peninsula that may affect both natural and human systems significantly. Therefore, it is important to assess the future changes in the seasonal/annual mean of temperature and precipitation and also the extremes in temperature and wind events for a country like Qatar. This study assesses the performance of the Coupled Model Inter comparison Project Phase 5 (CMIP5) simulations in present and develops future climate scenarios. The changes in climate extremes are assessed for three future periods 2016-2035, 2046-2065 and 2080-2099 with respect to 1986-2005 (base line) under two RCPs (Representative Concentrate Pathways) - RCP4.5 and RCP8.5. We analyzed the projected changes in temperature and precipitation extremes using several indices including those that capture heat stress. The observations show an increase in warm extremes over many parts in this region that are generally well captured by the models. The results indicate a significant change in frequency and intensity of both temperature and precipitation extremes over many parts of this region which may have serious implications on human health, water resources and the onshore/offshore infrastructure in this region. Data from a high-resolution (20km) AGCM simulation from Meteorological Research Institute of Japan Meteorological Agency for the present (1979-2003) and a future time slice (2075-2099) corresponding to RCP8.5 have also been utilized to assess the impact of climate change on

  4. Controlling false discoveries in genetic studies.

    PubMed

    van den Oord, Edwin J C G

    2008-07-01

    A false discovery occurs when a researcher concludes that a marker is involved in the etiology of the disease whereas in reality it is not. In genetic studies the risk of false discoveries is very high because only few among the many markers that can be tested will have an effect on the disease. In this article, we argue that it may be best to use methods for controlling false discoveries that would introduce the same ratio of false discoveries divided by all rejected tests into the literature regardless of systematic differences between studies. After a brief discussion of traditional "multiple testing" methods, we show that methods that control the false discovery rate (FDR) may be more suitable to achieve this goal. These FDR methods are therefore discussed in more detail. Instead of merely testing for main effects, it may be important to search for gene-environment/covariate interactions, gene-gene interactions or genetic variants affecting disease subtypes. In the second section, we point out the challenges involved in controlling false discoveries in such searches. The final section discusses the role of replication studies for eliminating false discoveries and the complexities associated with the definition of what constitutes a replication and the design of these studies.

  5. Knowledge and use of folic acid among pregnant Arabian women residing in Qatar and Oman.

    PubMed

    Hassan, Abdelmonem S; Al-Kharusi, Balqees M

    2008-02-01

    The objective of this study was to assess the knowledge and use of folic acid among pregnant Arabian women in Qatar and Oman. Three hundred pregnant women were interviewed during their second trimester based on a questionnaire developed for the study. Results of the survey indicated that 94% of the women knew about folic acid, 41.3% knew it should be taken periconceptionally, 58.5% knew that it prevents birth defects and 34.4% were able to identify five or more food sources of folic acid. The majority (88.7%) of women was taking the supplement, 85.0% were taking it regularly and 13.2% took it before getting pregnant. Knowledge and use were significantly influenced by ethnicity, age, education level, employment and family income. Periconceptional use of supplement was lowest among younger women (4.9%) and illiterate and least educated women (5.3%). It was concluded that high level of knowledge of folic acid was not reflected as successful use of the folic acid supplement.

  6. The Etruscans: A Population-Genetic Study

    PubMed Central

    Vernesi, Cristiano; Caramelli, David; Dupanloup, Isabelle; Bertorelle, Giorgio; Lari, Martina; Cappellini, Enrico; Moggi-Cecchi, Jacopo; Chiarelli, Brunetto; Castrì, Loredana; Casoli, Antonella; Mallegni, Francesco; Lalueza-Fox, Carles; Barbujani, Guido

    2004-01-01

    The origins of the Etruscans, a non-Indo-European population of preclassical Italy, are unclear. There is broad agreement that their culture developed locally, but the Etruscans’ evolutionary and migrational relationships are largely unknown. In this study, we determined mitochondrial DNA sequences in multiple clones derived from bone samples of 80 Etruscans who lived between the 7th and the 3rd centuries b.c. In the first phase of the study, we eliminated all specimens for which any of nine tests for validation of ancient DNA data raised the suspicion that either degradation or contamination by modern DNA might have occurred. On the basis of data from the remaining 30 individuals, the Etruscans appeared as genetically variable as modern populations. No significant heterogeneity emerged among archaeological sites or time periods, suggesting that different Etruscan communities shared not only a culture but also a mitochondrial gene pool. Genetic distances and sequence comparisons show closer evolutionary relationships with the eastern Mediterranean shores for the Etruscans than for modern Italian populations. All mitochondrial lineages observed among the Etruscans appear typically European or West Asian, but only a few haplotypes were found to have an exact match in a modern mitochondrial database, raising new questions about the Etruscans’ fate after their assimilation into the Roman state. PMID:15015132

  7. Study Suggests Genetic Link to Middle Ear Infections

    MedlinePlus

    ... medlineplus.gov/news/fullstory_161378.html Study Suggests Genetic Link to Middle Ear Infections They're the ... News) -- Researchers say they've found a potential genetic link to a child's higher risk of middle ...

  8. Sport events and climate for visitors—the case of FIFA World Cup in Qatar 2022

    NASA Astrophysics Data System (ADS)

    Matzarakis, Andreas; Fröhlich, Dominik

    2015-04-01

    The effect of weather on sport events is not well studied. It requires special attention if the event is taking place at a time and place with extreme weather situations. For the world soccer championship in Qatar (Doha 2022), human biometeorological analysis has been performed in order to identify the time of the year that is most suitable in terms of thermal comfort for visitors attending the event. The analysis is based on thermal indices like Physiologically Equivalent Temperature (PET). The results show that this kind of event may be not appropriate for visitors, if it is placed during months with extreme conditions. For Doha, this is the period from May to September, when conditions during a large majority of hours of the day cause strong heat stress for the visitors. A more appropriate time would be the months November to February, when thermally comfortable conditions are much more frequent. The methods applied here can quantify the thermal conditions and show limitations and possibilities for specific events and locations.

  9. 3D laser scanning and modelling of the Dhow heritage for the Qatar National Museum

    NASA Astrophysics Data System (ADS)

    Wetherelt, A.; Cooper, J. P.; Zazzaro, C.

    2014-08-01

    Curating boats can be difficult. They are complex structures, often demanding to conserve whether in or out of the water; they are usually large, difficult to move on land, and demanding of gallery space. Communicating life on board to a visiting public in the terra firma context of a museum can be difficult. Boats in their native environment are inherently dynamic artifacts. In a museum they can be static and divorced from the maritime context that might inspire engagement. New technologies offer new approaches to these problems. 3D laser scanning and digital modeling offers museums a multifaceted means of recording, monitoring, studying and communicating watercraft in their care. In this paper we describe the application of 3D laser scanning and subsequent digital modeling. Laser scans were further developed using computer-generated imagery (CGI) modeling techniques to produce photorealistic 3D digital models for development into interactive, media-based museum displays. The scans were also used to generate 2D naval lines and orthographic drawings as a lasting curatorial record of the dhows held by the National Museum of Qatar.

  10. Sport events and climate for visitors--the case of FIFA World Cup in Qatar 2022.

    PubMed

    Matzarakis, Andreas; Fröhlich, Dominik

    2015-04-01

    The effect of weather on sport events is not well studied. It requires special attention if the event is taking place at a time and place with extreme weather situations. For the world soccer championship in Qatar (Doha 2022), human biometeorological analysis has been performed in order to identify the time of the year that is most suitable in terms of thermal comfort for visitors attending the event. The analysis is based on thermal indices like Physiologically Equivalent Temperature (PET). The results show that this kind of event may be not appropriate for visitors, if it is placed during months with extreme conditions. For Doha, this is the period from May to September, when conditions during a large majority of hours of the day cause strong heat stress for the visitors. A more appropriate time would be the months November to February, when thermally comfortable conditions are much more frequent. The methods applied here can quantify the thermal conditions and show limitations and possibilities for specific events and locations.

  11. Horizontal well application in QGPC - Qatar, Arabian Gulf

    SciTech Connect

    Jubralla, A.F.; Al-Omran, J.; Al-Omran, S.

    1995-08-01

    As with many other areas in the world, the application of horizontal well technology in Qatar has changed the {open_quotes}old time{close_quotes} reservoir development philosophy and approach. QGPC`s first experience with this technology was for increased injectivity in an upper Jurassic reservoir which is comprised by alternating high and low permeable layers. The first well drilled in 1990 offshore was an extreme success and the application was justified for fieldwide implementation. Huge costs were saved as a result. This was followed by 2 horizontal wells for increased productivity in a typically tight (< 5 mD) chalky limestone of Cretaceous age. A fourth offshore well drilled in a thin (30 ft) and tight (10-100 mD) Jurassic dolomite overlaying a stack of relatively thick (25-70 ft) and {open_quotes}Watered Out{close_quotes} grain and grain-packstones, (500-4500 mD) indicated another viable and successful application. A similar approach in the Onshore Dukhan field has been adopted for another Upper Jurassic reservoir. The reservoir is 80 ft thick and is being developed by vertical wells. However, permeability contrast between the upper and lower cycles had caused preferential production and hence injection across the lower cycles, leaving the upper cycles effectively undrained. Horizontal wells have resulted in productivity and injectivity improvements by a factor 3 to 5 that of vertical wells. Therefore a field wide development scheme is being implemented. 3D seismic and the imaging tools, such as the FMS, reconciled with horizontal cores have assisted in understanding the lateral variation and the macro and micro architectural and structural details of these reservoirs. Such tools are essential for the optimum design of horizontal wells.

  12. Composition of Atmospheric Dust from Qatar in the Arabian Gulf

    NASA Astrophysics Data System (ADS)

    Yigiterhan, O.; Al-Ansari, I. S.; Abdel-Moati, M.; Al-Ansi, M.; Paul, B.; Nelson, A.; Turner, J.; Murray, J. W.; Alfoldy, B. Z.; Mahfouz, M. M. K.; Giamberini, M.

    2015-12-01

    Samples of atmospheric dust from Qatar have been collected and analyzed for major and trace elemental composition. Twenty-one samples were collected in 2014 and 2015 from Doha, Al Khor, Katara, Sealine, and Al Waab by a variety of techniques. Some samples were collected during the megastorms that occurred in April 2015. Back trajectories were determined for each sample using the NOAA HYSPLIT model over a 50 hour time interval. Our samples were about equally divided between northerly (n=12; northern Saudi Arabia, Kuwait or Iraq) and southerly (n=8; SE Saudi Arabia, United Arab Emirates and Oman) sources. One sample originated directly westward, in Saudi Arabia. Samples were microwave-assisted total acid digested (HF+HCl+HNO3) and analyzed by inductively coupled plasma-mass spectroscopy (ICP-MS) and inductively coupled plasma-optical emission spectroscopy (ICP-OES). There are only 12 out of 23 elements for which the Qatari dust was enriched relative to upper continental crust (UCC). Calcium was especially enriched at 400% relative to UCC. About 33% of the total sample mass was CaCO3, reflecting the composition of surface rocks in the source areas. Of the elements typically associated with anthropogenic activity, Ag, Ni and Zn were the most enriched relative to UCC, with enrichment factors of 182%, 233% and 209%, respectively. Others like Pb and V were not significantly enriched, with enrichment factors of 25% and 3%, respectively. The major elements Al, Mn and Fe were depleted relative to UCC because of the strong enrichment in CaCO3, with enrichment factors of -58%, -35% and -45% respectively. We separately averaged the samples with northern and southern origins to see if composition could be used to identify source. Only three elements had a statistical difference. Pb and Na were higher in the samples from the Se while Cr was higher in those from the north.

  13. Seroprevalence and epidemiological correlates of Toxoplasma gondii infections among patients referred for hospital-based serological testing in Doha, Qatar

    PubMed Central

    Abu-Madi, Marawan A; Al-Molawi, Naema; Behnke, Jerzy M

    2008-01-01

    Background The city of Doha in Qatar has a high density of feral cats and there is a high risk of toxoplasmosis for the resident human population. No data currently exist for the prevalence of infection with Toxoplasma gondii in the city. Methods We analysed the serological response to Toxoplasma gondii of 1625 subjects referred for routine hospital based serological tests in Doha, Qatar. Prevalence of current/recent infection was assessed through an enzyme-linked immunosorbent assay (ELISA) for the presence of specific anti-T. gondii IgM antibodies, and previous history of infection through IgG. Results Overall prevalence of IgG responses was 29.8% and this did not differ between the sexes nor between the three years of the study although there was a marked age effect. Among children less than 1 year old prevalence was 22.9%, but then dropped to <4% in the 1 year old group, indicating that these antibodies were most likely acquired in utero from immune mothers. Prevalence then increased steadily to peak at 41.2% among the oldest age class (>45 years). The prevalence of IgG antibody also varied significantly with region of origin, with higher rates for subjects from Africa, followed by those from the Eastern Mediterranean or Asia and lowest rates for subjects from the Arabian Peninsula. No IgM antibodies were detected in any subjects younger than 19 years, but prevalence increased to plateau at 7 – 9% in subjects aged over 20 years, and also varied with region of origin. In this case prevalence was highest among subjects from the Arabian Peninsula and least among those from Asia. Prevalence of IgM was higher among male subjects but did not vary between the three years of the study. Conclusion Although these data are based on a selected subset of the population, they nevertheless provide the first evidence that toxoplasmosis is endemic in Qatar in the human population, and that both age and region of origin play a role in the epidemiology of the infection

  14. Molecular Genetic Studies of Complex Phenotypes

    PubMed Central

    Marian, A.J.

    2012-01-01

    The approach to molecular genetic studies of complex phenotypes has evolved considerably during the recent years. The candidate gene approach, restricted to analysis of a few single nucleotide polymorphisms (SNPs) in a modest number of cases and controls, has been supplanted by the unbiased approach of Genome-Wide Association Studies (GWAS), wherein a large number of tagger SNPs are typed in a large number of individuals. GWAS, which are designed upon the common disease- common variant hypothesis (CD-CV), have identified a large number of SNPs and loci for complex phenotypes. However, alleles identified through GWAS are typically not causative but rather in linkage disequilibrium (LD) with the true causal variants. The common alleles, which may not capture the uncommon and rare variants, account only for a fraction of heritability of the complex traits. Hence, the focus is being shifted to rare variants – common disease (RV-CD) hypothesis, surmising that rare variants exert large effect sizes on the phenotype. In conjunctional with this conceptual shift technological advances in DNA sequencing techniques have dramatically enhanced whole genome or whole exome sequencing capacity. The sequencing approach affords identification of not only the rare but also the common variants. The approach – whether used in complementation with GWAS or as a stand-alone approach - could define the genetic architecture of the complex phenotypes. Robust phenotyping and large-scale sequencing studies are essential to extract the information content of the vast number of DNA sequence variants (DSVs) in the genome. To garner meaningful clinical information and link the genotype to a phenotype, identification and characterization of a very large number of causal fields beyond the information content of DNA sequence variants would be necessary. This review provides an update on the current progress and limitations in identifying DSVs that are associated with phenotypic effects. PMID

  15. A genetic study of affective disorders.

    PubMed

    Smeraldi, E; Negri, F; Melica, A M

    1977-11-01

    First and second degree relatives of 99 probands with affective disorders (49 unipolar and 50 bipolar subjects) were studied. The high risk values obtained for affective disorders were shown to be compatible with those found by other authors, although the prevalence of the illness in the population of Lombardy appears to be much lower than in other countries. Very low rates of suicide and alcoholism were found in our sample. Data obtained by analysis of the affected pairs of relatives rule out the hypothesis of a dominant X-linked gene if the bipolar and the unipolar forms are considered genetically separated entities. Results compatible with a polygenic condition, partially shared by bipolar patients, were found using Slater's and Smith & Falconer's methods. Our data, however, cannot rule out the dominant hypothesis. PMID:596231

  16. Evolutionary genetics in wild primates: combining genetic approaches with field studies of natural populations

    PubMed Central

    Tung, Jenny; Alberts, Susan C; Wray, Gregory A

    2010-01-01

    Ecological and evolutionary studies of wild primates hold important keys to understanding both the shared characteristics of primate biology and the genetic and phenotypic differences that make specific lineages, including our own, unique. Although complementary genetic research on nonhuman primates has long been of interest, recent technological and methodological advances now enable functional and population genetic studies in an unprecedented manner. In the past several years, novel genetic data sets have revealed new information about the demographic history of primate populations and the genetics of adaptively important traits. In combination with the rich history of behavioral, ecological, and physiological work on natural primate populations, genetic approaches promise to provide a compelling picture of primate evolution in the past and in the present day. PMID:20580115

  17. Development of Education in Qatar (1975/76 and 1976/77).

    ERIC Educational Resources Information Center

    Ministry of Education and Youth Welfare (Qatar).

    The national educational system of Qatar was established in 1956, when the discovery of oil provided a financial base for educational expansion. The government provides free education from primary school through the university and has stressed a system of incentives for students rather than declaring education compulsory on any level. Four types…

  18. Qatar's Educational System in the Technology-Driven Era: Long Story Short

    ERIC Educational Resources Information Center

    Karkouti, Ibrahim Mohamad

    2016-01-01

    This paper provides an overview of Qatar's educational system. Specifically, it focuses on the national educational reform that has been unfolding since 2003, tracks its progress, and describes the extent to which educational technology is utilized within Qatari institutions of the higher education. The paper ends with recommendations for practice…

  19. Qatar-1b: a hot Jupiter orbiting a metal-rich K dwarf star

    NASA Astrophysics Data System (ADS)

    Alsubai, K. A.; Parley, N. R.; Bramich, D. M.; West, R. G.; Sorensen, P. M.; Collier Cameron, A.; Latham, D. W.; Horne, K.; Anderson, D. R.; Bakos, G. Á.; Brown, D. J. A.; Buchhave, L. A.; Esquerdo, G. A.; Everett, M. E.; Fżrész, G.; Hartman, J. D.; Hellier, C.; Miller, G. M.; Pollacco, D.; Quinn, S. N.; Smith, J. C.; Stefanik, R. P.; Szentgyorgyi, A.

    2011-10-01

    We report the discovery and initial characterization of Qatar-1b, a hot Jupiter-orbiting metal-rich K dwarf star, the first planet discovered by the Qatar Exoplanet Survey. We describe the strategy used to select candidate transiting planets from photometry generated by the Qatar Exoplanet Survey camera array. We examine the rate of astrophysical and other false positives found during the spectroscopic reconnaissance of the initial batch of candidates. A simultaneous fit to the follow-up radial velocities and photometry of Qatar-1b yields a planetary mass of 1.09 ± 0.08 MJ and a radius of 1.16 ± 0.05 RJ. The orbital period and separation are 1.420 033 ± 0.000 016 d and 0.023 43 ± 0.000 26 au for an orbit assumed to be circular. The stellar density, effective temperature and rotation rate indicate an age greater than 4 Gyr for the system.

  20. Quality of Life of Caregivers of Children with Autism in Qatar

    ERIC Educational Resources Information Center

    Kheir, Nadir; Ghoneim, Ola; Sandridge, Amy L.; Al-Ismail, Muna; Hayder, Sara; Al-Rawi, Fadhila

    2012-01-01

    Introduction: Caring for a child diagnosed with autism could affect the quality of life of the caregiver in various different ways. No previous research has assessed the quality of lives of caregivers of children with autism in Qatar. Methods: Caregivers of a child with autism between 3 and 17 years old were recruited from child rehabilitation…

  1. International Trends in Health Science Librarianship Part 18: The Middle East (Iran, Qatar and Turkey).

    PubMed

    Zeraatkar, Kimia; Ayatollahi, Haleh; Havlin, Tracy; Neves, Karen; Şendir, Mesra

    2016-06-01

    This is the 18th in a series of articles exploring international trends in health science librarianship in the 21st century. The focus of the present issue is the Middle East (Iran, Qatar and Turkey). The next feature column will investigate trends in the Balkan States JM.

  2. "Hope in the Life": The Children of Qatar Speak about Inclusion

    ERIC Educational Resources Information Center

    Al Attiyah, Asma; Lazarus, Brenda

    2007-01-01

    Qatar supports the rights of children with special needs to obtain suitable opportunities to learn and be included with other children. However, the concept of inclusion in education is relatively new in this country. In 2001, the Special Needs Committee of the Supreme Council for Family Affairs set up a task force to begin planning for including…

  3. A road map to Translational Medicine in Qatar and a model for the world.

    PubMed

    Marincola, Francesco M; Sheikh, Javaid I

    2012-08-29

    Translational Medicine (TM) in Qatar is part of a concerted effort of the Qatari medical and scientific leadership supported by a strong political will by Qatari authorities to deliver world-class health care to Qatari residents while participating in the worldwide quest to bridge the gap between bench-to-bedside-to-community. TM programs should embrace the Qatar National vision for research to become an international hub of excellence in research and development, based on intellectual merit, contributing to global knowledge and adhering to international standards, to innovate by translating new and original ideas into useful applications, to be inclusive at the national and international level, to build and maintain a competitive and diversified economy and ultimately improve the health and well-being of the Qatar's population. Although this writing focuses on Qatar, we hope that the thoughts expressed here may be of broader use for the development of any TM program particularly in regions where an established academic community surrounded by a rich research infrastructure and/or a vibrant biotechnology enterprise is not already present.

  4. A road map to Translational Medicine in Qatar and a model for the world.

    PubMed

    Marincola, Francesco M; Sheikh, Javaid I

    2012-01-01

    Translational Medicine (TM) in Qatar is part of a concerted effort of the Qatari medical and scientific leadership supported by a strong political will by Qatari authorities to deliver world-class health care to Qatari residents while participating in the worldwide quest to bridge the gap between bench-to-bedside-to-community. TM programs should embrace the Qatar National vision for research to become an international hub of excellence in research and development, based on intellectual merit, contributing to global knowledge and adhering to international standards, to innovate by translating new and original ideas into useful applications, to be inclusive at the national and international level, to build and maintain a competitive and diversified economy and ultimately improve the health and well-being of the Qatar's population. Although this writing focuses on Qatar, we hope that the thoughts expressed here may be of broader use for the development of any TM program particularly in regions where an established academic community surrounded by a rich research infrastructure and/or a vibrant biotechnology enterprise is not already present. PMID:22929646

  5. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  6. Seasonal Variability in Tropospheric Ozone Distribution Over Qatar

    NASA Astrophysics Data System (ADS)

    Ayoub, Mohammed; Ackermann, Luis

    2015-04-01

    We report on the vertical distribution and seasonal variability in tropospheric ozone over the Middle East through one year of weekly ozonesondes launched from Doha, Qatar during 2014. A total of 49 2Z-V7 DMT/EN-SCI Electrochemical Concentration Cell (ECC) ozonesondes employing a 1% buffered potassium iodide solution (KI), coupled with iMet-1-RS GPS radiosondes were launched around 1300 local time. The authors used the SkySonde telemetry software (developed by CIRES and NOAA/ESRL) and developed robust in-house data quality assurance and validation methodologies. The average height of the thermal tropopause is between 15-17.5 km (125-85 hPa). Monthly average relative humidity around the tropopause shows an enhancement during the months of June through the beginning of October. Monthly average temperature profiles show the development of the subtropical subsidence inversion around 5-6 km (450-520 hPa) between the months of April through October. The subsidence inversion is strongest during the months of June and July and is accompanied by a sharp drop in relative humidity over a 100-300 m in the vertical. The monthly average ozone background concentration between the Planetary Boundary Layer (PBL) height and the subsidence inversion increases from 50 ppb in the winter to almost 80 ppb in the summer months. An enhancement of up to 50% in the average ozone in the mid-to-upper troposphere (above the subsidence inversion) is strongest during the summer months (June through September) and results in average concentrations between 80-100 ppb. In the upper troposphere (above 13 km/200 hPa) ozone concentrations are highest during the spring and summer months. This is coupled with a drop in the average height of the tropopause. HYSPLIT back-trajectory analysis shows the enhancement in mid-to-upper tropospheric ozone in the summer is due to persistent high pressure over the Middle East between the months of June through September. Evidence of Stratosphere-Troposphere Exchange

  7. Species, sex, size and male maturity composition of previously unreported elasmobranch landings in Kuwait, Qatar and Abu Dhabi Emirate.

    PubMed

    Moore, A B M; McCarthy, I D; Carvalho, G R; Peirce, R

    2012-04-01

    This paper presents data from the first major survey of the diversity, biology and fisheries of elasmobranchs in the Persian (Arabian) Gulf. Substantial landings of elasmobranchs, usually as gillnet by-catch, were recorded in Kuwait, Qatar and the Emirate of Abu Dhabi (part of the United Arab Emirates), although larger elasmobranchs from targeted line fisheries were landed in Abu Dhabi. The elasmobranch fauna recorded was distinctive and included species that are undescribed, rare and have a highly restricted known distribution. Numerical abundance was dominated by sharks (c. 80%), of which carcharhinids were by far the most important. The milk shark Rhizoprionodon acutus and whitecheek shark Carcharhinus dussumieri together comprised just under half of all recorded individuals. Around 90% of recorded sharks were small (50-90 cm total length, L(T) ) individuals, most of which were mature individuals of species with a small maximum size (<100 cm L(T) ), although immature individuals of larger species (e.g. Carcharhinus sorrah and other Carcharhinus spp.) were also important. The most frequently recorded batoid taxa were cownose rays Rhinoptera spp., an undescribed whipray, and the granulated guitarfish Rhinobatos granulatus. The first size, sex and maturity data for a wide range of Gulf elasmobranch species are presented (including L(T) at 50% maturity for males of four shark species) and include some notable differences from other locations in the Indo-West Pacific Ocean. A number of concerns regarding the sustainability of the fishery were highlighted by this study, notably that most of the batoid species recorded are classed by the IUCN Red List as vulnerable, endangered, data deficient or not evaluated. Despite their considerable elasmobranch landings, none of the three countries sampled have developed a 'Shark Plan' as encouraged to do so under the FAO International Plan of Action: Sharks. Furthermore, Kuwait and Qatar currently report zero or no elasmobranch

  8. Species, sex, size and male maturity composition of previously unreported elasmobranch landings in Kuwait, Qatar and Abu Dhabi Emirate.

    PubMed

    Moore, A B M; McCarthy, I D; Carvalho, G R; Peirce, R

    2012-04-01

    This paper presents data from the first major survey of the diversity, biology and fisheries of elasmobranchs in the Persian (Arabian) Gulf. Substantial landings of elasmobranchs, usually as gillnet by-catch, were recorded in Kuwait, Qatar and the Emirate of Abu Dhabi (part of the United Arab Emirates), although larger elasmobranchs from targeted line fisheries were landed in Abu Dhabi. The elasmobranch fauna recorded was distinctive and included species that are undescribed, rare and have a highly restricted known distribution. Numerical abundance was dominated by sharks (c. 80%), of which carcharhinids were by far the most important. The milk shark Rhizoprionodon acutus and whitecheek shark Carcharhinus dussumieri together comprised just under half of all recorded individuals. Around 90% of recorded sharks were small (50-90 cm total length, L(T) ) individuals, most of which were mature individuals of species with a small maximum size (<100 cm L(T) ), although immature individuals of larger species (e.g. Carcharhinus sorrah and other Carcharhinus spp.) were also important. The most frequently recorded batoid taxa were cownose rays Rhinoptera spp., an undescribed whipray, and the granulated guitarfish Rhinobatos granulatus. The first size, sex and maturity data for a wide range of Gulf elasmobranch species are presented (including L(T) at 50% maturity for males of four shark species) and include some notable differences from other locations in the Indo-West Pacific Ocean. A number of concerns regarding the sustainability of the fishery were highlighted by this study, notably that most of the batoid species recorded are classed by the IUCN Red List as vulnerable, endangered, data deficient or not evaluated. Despite their considerable elasmobranch landings, none of the three countries sampled have developed a 'Shark Plan' as encouraged to do so under the FAO International Plan of Action: Sharks. Furthermore, Kuwait and Qatar currently report zero or no elasmobranch

  9. Methodological considerations in the study of genetic discrimination.

    PubMed

    Treloar, Susan; Taylor, Sandra; Otlowski, Margaret; Barlow-Stewart, Kristine; Stranger, Mark; Chenoweth, Kellie

    2004-01-01

    The potential significance and dimensions of genetic discrimination have been described extensively in published literature, but epidemiological and verified case data are limited. Obtaining unbiased data from individuals about discrimination which has been based on erroneous or unjustifiable assumptions about their genetic predispositions poses unique challenges. Through review and discussion of research literature, we identify methodological considerations for collecting valid epidemiological data on genetic discrimination from individuals in the community; in particular, we consider issues which relate to sampling, selection and response. We identify issues to promote sound study design, with particular attention to verification of genetic discrimination, and highlight the importance of clinical and genetic knowledge of complex genotype-phenotype relationships.

  10. Selection of homogeneous populations for genetic study: the Portugal genetics of psychosis project.

    PubMed

    Pato, C N; Azevedo, M H; Pato, M T; Kennedy, J L; Coelho, I; Dourado, A; Macedo, A; Valente, J; Ferreira, C P; Madeira, J; Gago da Camara, J; Moniz, M; Correia, C

    1997-05-31

    Molecular genetic studies of psychiatric disorders must face the possibility that despite the significant contribution of genetic factors to the expression of syndromes like schizophrenia, these syndromes may be a heterogeneous collection of genetic and non-genetic illnesses. These illnesses may be etiologically distinct from each other and still share many clinical features in common. Linkage studies of families with multiple affected members tend to favor the selection of genetic forms of a syndrome but can still represent a heterogeneous set of different genetic illnesses. To limit the potential genetic heterogeneity of a study sample, we selected a population that was geographically isolated and was historically relatively genetically homogeneous. We then assessed the relative level of homogeneity utilizing a surname analysis of the population of the Azores, mainland Portugal, rural USA, and urban USA. The average number of families with the same last name corrected for population size in the Azores is 30.88, in Coimbra it is 21.42, compared to 1.13 in a rural American population and 0.38 in an urban American population. The results of this analysis indicate that the Azores have the highest degree of homogeneity, and mainland Portugal has a high degree of homogeneity.

  11. Emerging Trends in Behavioral Genetic Studies of Child Temperament

    PubMed Central

    Saudino, Kimberly J.; Micalizzi, Lauren

    2015-01-01

    In this article, we describe three emerging trends in the application of behavioral genetic methods to the study of temperament. The trends—using multiple methods to assess temperament, considering contextual influences on temperament, and evaluating the structure of temperament—have been well studied in the phenotypic literature, but adding a behavioral genetic perspective can enrich our understanding of temperament. We review recent behavioral genetic research in each of these areas and discuss its implications. PMID:26417384

  12. Statistical Analysis in Genetic Studies of Mental Illnesses

    PubMed Central

    Zhang, Heping

    2011-01-01

    Identifying the risk factors for mental illnesses is of significant public health importance. Diagnosis, stigma associated with mental illnesses, comorbidity, and complex etiologies, among others, make it very challenging to study mental disorders. Genetic studies of mental illnesses date back at least a century ago, beginning with descriptive studies based on Mendelian laws of inheritance. A variety of study designs including twin studies, family studies, linkage analysis, and more recently, genomewide association studies have been employed to study the genetics of mental illnesses, or complex diseases in general. In this paper, I will present the challenges and methods from a statistical perspective and focus on genetic association studies. PMID:21909187

  13. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  14. Functional-mixed effects models for candidate genetic mapping in imaging genetic studies.

    PubMed

    Lin, Ja-An; Zhu, Hongtu; Mihye, Ahn; Sun, Wei; Ibrahim, Joseph G

    2014-12-01

    The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficiently carrying out the candidate gene approaches in imaging genetic studies. FMEM consists of two novel components including a mixed effects model for modeling nonlinear genetic effects on imaging phenotypes by introducing the genetic random effects at each voxel and a jumping surface model for modeling the variance components of the genetic random effects and fixed effects as piecewise smooth functions of the voxels. Moreover, FMEM naturally accommodates the correlation structure of the genetic markers at each voxel, while the jumping surface model explicitly incorporates the intrinsically spatial smoothness of the imaging data. We propose a novel two-stage adaptive smoothing procedure to spatially estimate the piecewise smooth functions, particularly the irregular functional genetic variance components, while preserving their edges among different piecewise-smooth regions. We develop weighted likelihood ratio tests and derive their exact approximations to test the effect of the genetic markers across voxels. Simulation studies show that FMEM significantly outperforms voxel-wise approaches in terms of higher sensitivity and specificity to identify regions of interest for carrying out candidate genetic mapping in imaging genetic studies. Finally, FMEM is used to identify brain regions affected by three candidate genes including CR1, CD2AP, and PICALM, thereby hoping to shed light on the pathological interactions between these candidate genes and brain structure and function.

  15. Optimal Trend Tests for Genetic Association Studies of Heterogeneous Diseases.

    PubMed

    Lee, Wen-Chung

    2016-06-09

    The Cochran-Armitage trend test is a standard procedure in genetic association studies. It is a directed test with high power to detect genetic effects that follow the gene-dosage model. In this paper, the author proposes optimal trend tests for genetic association studies of heterogeneous diseases. Monte-Carlo simulations show that the power gain of the optimal trend tests over the conventional Cochran-Armitage trend test is striking when the genetic effects are heterogeneous. The easy-to-use R 3.1.2 software (R Foundation for Statistical Computing, Vienna, Austria) code is provided. The optimal trend tests are recommended for routine use.

  16. Library collaboration with medical humanities in an american medical college in qatar.

    PubMed

    Birch, Sally; Magid, Amani; Weber, Alan

    2013-11-01

    The medical humanities, a cross-disciplinary field of practice and research that includes medicine, literature, art, history, philosophy, and sociology, is being increasingly incorporated into medical school curricula internationally. Medical humanities courses in Writing, Literature, Medical Ethics and History can teach physicians-in-training communication skills, doctor-patient relations, and medical ethics, as well as empathy and cross-cultural understanding. In addition to providing educational breadth and variety, the medical humanities can also play a practical role in teaching critical/analytical skills. These skills are utilized in differential diagnosis and problem-based learning, as well as in developing written and oral communications. Communication skills are a required medical competency for passing medical board exams in the U.S., Canada, the UK and elsewhere. The medical library is an integral part of medical humanities training efforts. This contribution provides a case study of the Distributed eLibrary at the Weill Cornell Medical College in Qatar in Doha, and its collaboration with the Writing Program in the Premedical Program to teach and develop the medical humanities. Programs and initiatives of the DeLib library include: developing an information literacy course, course guides for specific courses, the 100 Classic Books Project, collection development of 'doctors' stories' related to the practice of medicine (including medically-oriented movies and TV programs), and workshops to teach the analytical and critical thinking skills that form the basis of humanistic approaches to knowledge. This paper outlines a 'best practices' approach to developing the medical humanities in collaboration among the medical library, faculty and administrative stakeholders. PMID:24223240

  17. Library Collaboration with Medical Humanities in an American Medical College in Qatar

    PubMed Central

    Birch, Sally; Magid, Amani; Weber, Alan

    2013-01-01

    The medical humanities, a cross-disciplinary field of practice and research that includes medicine, literature, art, history, philosophy, and sociology, is being increasingly incorporated into medical school curricula internationally. Medical humanities courses in Writing, Literature, Medical Ethics and History can teach physicians-in-training communication skills, doctor-patient relations, and medical ethics, as well as empathy and cross-cultural understanding. In addition to providing educational breadth and variety, the medical humanities can also play a practical role in teaching critical/analytical skills. These skills are utilized in differential diagnosis and problem-based learning, as well as in developing written and oral communications. Communication skills are a required medical competency for passing medical board exams in the U.S., Canada, the UK and elsewhere. The medical library is an integral part of medical humanities training efforts. This contribution provides a case study of the Distributed eLibrary at the Weill Cornell Medical College in Qatar in Doha, and its collaboration with the Writing Program in the Premedical Program to teach and develop the medical humanities. Programs and initiatives of the DeLib library include: developing an information literacy course, course guides for specific courses, the 100 Classic Books Project, collection development of ‘doctors’ stories’ related to the practice of medicine (including medically-oriented movies and TV programs), and workshops to teach the analytical and critical thinking skills that form the basis of humanistic approaches to knowledge. This paper outlines a ‘best practices’ approach to developing the medical humanities in collaboration among the medical library, faculty and administrative stakeholders. PMID:24223240

  18. Library collaboration with medical humanities in an american medical college in qatar.

    PubMed

    Birch, Sally; Magid, Amani; Weber, Alan

    2013-11-01

    The medical humanities, a cross-disciplinary field of practice and research that includes medicine, literature, art, history, philosophy, and sociology, is being increasingly incorporated into medical school curricula internationally. Medical humanities courses in Writing, Literature, Medical Ethics and History can teach physicians-in-training communication skills, doctor-patient relations, and medical ethics, as well as empathy and cross-cultural understanding. In addition to providing educational breadth and variety, the medical humanities can also play a practical role in teaching critical/analytical skills. These skills are utilized in differential diagnosis and problem-based learning, as well as in developing written and oral communications. Communication skills are a required medical competency for passing medical board exams in the U.S., Canada, the UK and elsewhere. The medical library is an integral part of medical humanities training efforts. This contribution provides a case study of the Distributed eLibrary at the Weill Cornell Medical College in Qatar in Doha, and its collaboration with the Writing Program in the Premedical Program to teach and develop the medical humanities. Programs and initiatives of the DeLib library include: developing an information literacy course, course guides for specific courses, the 100 Classic Books Project, collection development of 'doctors' stories' related to the practice of medicine (including medically-oriented movies and TV programs), and workshops to teach the analytical and critical thinking skills that form the basis of humanistic approaches to knowledge. This paper outlines a 'best practices' approach to developing the medical humanities in collaboration among the medical library, faculty and administrative stakeholders.

  19. A "Genetic Study" of the Galaxy

    NASA Astrophysics Data System (ADS)

    2006-09-01

    Looking in detail at the composition of stars with ESO's VLT, astronomers are providing a fresh look at the history of our home galaxy, the Milky Way. They reveal that the central part of our Galaxy formed not only very quickly but also independently of the rest. "For the first time, we have clearly established a 'genetic difference' between stars in the disc and the bulge of our Galaxy," said Manuela Zoccali, lead author of the paper presenting the results in the journal Astronomy and Astrophysics [1]. "We infer from this that the bulge must have formed more rapidly than the disc, probably in less than a billion years and when the Universe was still very young." ESO PR Photo 34a/06 ESO PR Photo 34a/06 The Field around Baade's Window The Milky Way is a spiral galaxy, having pinwheel-shaped arms of gas, dust, and stars lying in a flattened disc, and extending directly out from a spherical nucleus of stars in the central region. The spherical nucleus is called a bulge, because it bulges out from the disc. While the disc of our Galaxy is made up of stars of all ages, the bulge contains old stars dating from the time the galaxy formed, more than 10 billion years ago. Thus, studying the bulge allows astronomers to know more about how our Galaxy formed. To do this, an international team of astronomers [2] analysed in detail the chemical composition of 50 giant stars in four different areas of the sky towards the Galactic bulge. They made use of the FLAMES/UVES spectrograph on ESO's Very Large Telescope to obtain high-resolution spectra. The chemical composition of stars carries the signature of the enrichment processes undergone by the interstellar matter up to the moment of their formation. It depends on the previous history of star formation and can thus be used to infer whether there is a 'genetic link' between different stellar groups. In particular, comparison between the abundance of oxygen and iron in stars is very illustrative. Oxygen is predominantly produced in

  20. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    PubMed

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts. PMID:27601615

  1. Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

    PubMed

    Barahona, Ana

    2016-09-01

    Following World War II (WWII), there was a new emphasis within genetics on studying the genetic composition of populations. This probably had a dual source in the growing strength of evolutionary biology and the new international interest in understanding the effects of radiation on human populations, following the atomic bombings in Japan. These global concerns were shared by Mexican physicians. Indeed, Mexico was one of the leading centers of this trend in human genetics. Three leading players in this story were Mario Salazar Mallén, Adolfo Karl, and Rubén Lisker. Their trajectories and the international networks in human genetics that were established after WWII, paved the way for the establishment of medical and population genetics in Mexico. Salazar Mallén's studies on the distribution and characterization of ABO blood groups in indigenous populations were the starting point while Karl's studies on the distribution of abnormal hemoglobin in Mexican indigenous populations showed the relationships observed in other laboratories at the time. It was Lisker's studies, however, that were instrumental in the development of population genetics in the context of national public policies for extending health care services to the Mexican population. In particular, he conducted studies on Mexican indigenous groups contributing to the knowledge of the biological diversity of human populations according to international trends that focused on the variability of human populations in terms of genetic frequencies. From the start, however, Lisker was as committed to the reconstruction of shared languages and practices as he was to building networks of collaboration in order to guarantee the necessary groundwork for establishing the study of the genetics of human populations in Mexico. This study also allows us to place Mexican science within a global context in which connected narratives describe the interplay between global trends and national contexts.

  2. Genetic Breeding and Diversity of the Genus Passiflora: Progress and Perspectives in Molecular and Genetic Studies

    PubMed Central

    Cerqueira-Silva, Carlos Bernard M.; Jesus, Onildo N.; Santos, Elisa S. L.; Corrêa, Ronan X.; Souza, Anete P.

    2014-01-01

    Despite the ecological and economic importance of passion fruit (Passiflora spp.), molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i) to present the current condition of the passion fruit crop; (ii) to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii) to present the contributions of genetic engineering for passion fruit culture; and (iv) to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit. PMID:25196515

  3. Genetic breeding and diversity of the genus Passiflora: progress and perspectives in molecular and genetic studies.

    PubMed

    Cerqueira-Silva, Carlos Bernard M; Jesus, Onildo N; Santos, Elisa S L; Corrêa, Ronan X; Souza, Anete P

    2014-01-01

    Despite the ecological and economic importance of passion fruit (Passiflora spp.), molecular markers have only recently been utilized in genetic studies of this genus. In addition, both basic genetic researches related to population studies and pre-breeding programs of passion fruit remain scarce for most Passiflora species. Considering the number of Passiflora species and the increasing use of these species as a resource for ornamental, medicinal, and food purposes, the aims of this review are the following: (i) to present the current condition of the passion fruit crop; (ii) to quantify the applications and effects of using molecular markers in studies of Passiflora; (iii) to present the contributions of genetic engineering for passion fruit culture; and (iv) to discuss the progress and perspectives of this research. Thus, the present review aims to summarize and discuss the relationship between historical and current progress on the culture, breeding, and molecular genetics of passion fruit. PMID:25196515

  4. Genetic Counseling of Adults with Williams Syndrome: A First Study

    PubMed Central

    Farwig, Katrina; Harmon, Amanda G.; Fontana, Kristina M.; Mervis, Carolyn B.; Morris, Colleen A.

    2010-01-01

    We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants’ attitudes toward socio-cultural topics. Forty nine % indicated they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated they did not plan to have children. During the post counseling session participants were questioned to determine if they recalled the facts previously presented. Eighy one % correctly gave the odds that their child would have WS. Fifty three % considered the 50-50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught, and 88% indicated they would want to test their baby for WS before birth. Ninety eight% would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS—a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory—are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions. PMID:20425790

  5. Genetic and Environmental Influences on Disordered Eating: An Adoption Study

    PubMed Central

    Klump, Kelly L.; Suisman, Jessica L.; Burt, S. Alexandra; McGue, Matt; Iacono, William G.

    2009-01-01

    Twin studies indicate significant genetic, but little shared environmental, influences on eating disorders. However, critics argue that study limitations constrain the conclusions that can be drawn. Adoption studies avoid many of these limitations, but to date, no adoption studies of eating pathology have been conducted. The current study was the first adoption study to examine genetic/environmental effects for disordered eating. Participants included 123 adopted and 56 biological female sibling pairs. Disordered eating (i.e., overall eating pathology, body dissatisfaction, weight preoccupation, binge eating) was assessed using the Minnesota Eating Behaviors Survey. Biometric model-fitting indicated significant genetic influences (59–82%) on all forms of disordered eating, with nonshared environmental factors accounting for the remaining variance. Shared environmental factors did not contribute significantly to any disordered eating symptom. Our findings bolster those from twin studies and provide critical evidence of significant genetic effects on disordered eating symptoms. PMID:19899849

  6. Perception and intentions to quit among waterpipe smokers in Qatar: a cross-sectional survey

    PubMed Central

    Jaam, M.; Al-Marridi, W.; Fares, H.; Izham, M.; Kheir, N.

    2016-01-01

    Objective: To evaluate the perceptions and attitudes of waterpipe (shisha) smokers in Qatar regarding the health risks associated with addiction and to determine their intentions to quit. Methods: A cross-sectional survey was conducted among 181 self-reported waterpipe smokers. Participants were approached in public places as well as in shisha cafes in Qatar. The questionnaire included items related to perception, attitude and intention to quit. Both descriptive and inferential statistics were performed for data analyses, with P ≤ 0.05 considered statistically significant. Results: About 44% of the respondents believed that waterpipe smoking was safer than cigarette smoking, and more than 70% would not mind if their children became involved in waterpipe smoking. More than half of the current smokers wanted to quit smoking shisha at some point, and 17% identified health concerns as the main motivating factor for their intention to quit. Conclusion: A large proportion of shisha smokers viewed shisha as a safer alternative to cigarettes, yet they admitted to intending to quit. These findings underscore the need to design educational interventions and awareness campaigns as well as impose stringent laws on waterpipe smoking in public places in Qatar. PMID:27051611

  7. A road map to Translational Medicine in Qatar and a model for the world

    PubMed Central

    2012-01-01

    Translational Medicine (TM) in Qatar is part of a concerted effort of the Qatari medical and scientific leadership supported by a strong political will by Qatari authorities to deliver world-class health care to Qatari residents while participating in the worldwide quest to bridge the gap between bench-to-bedside-to-community. TM programs should embrace the Qatar National vision for research to become an international hub of excellence in research and development, based on intellectual merit, contributing to global knowledge and adhering to international standards, to innovate by translating new and original ideas into useful applications, to be inclusive at the national and international level, to build and maintain a competitive and diversified economy and ultimately improve the health and well-being of the Qatar’s population. Although this writing focuses on Qatar, we hope that the thoughts expressed here may be of broader use for the development of any TM program particularly in regions where an established academic community surrounded by a rich research infrastructure and/or a vibrant biotechnology enterprise is not already present. PMID:22929646

  8. Geology and hydrocarbon potential in the state of Qatar, Arabian Gulf

    SciTech Connect

    Alsharhan, A.S. ); Nairn, A.E.M. )

    1990-05-01

    The state of Qatar is situated in the southern Arabian Gulf and covers an area of 12,000 km{sup 2}. It is formed by a large, broad anticline, which is part of the regional south-southwest-north-northeast-trending Qatar-South Fars arch. The arch separates the two Infracambrian salt basins. The Dukhan field was the first discovery, made in 1939, in the Upper Jurassic limestones. Since then, a series of discoveries have been made so that Qatar has become one of the leading OPEC oil states. Hydrocarbon accumulations are widely dispersed throughout the stratigraphic column from upper Paleozoic to Cretaceous producing strata. The most prolific reservoirs are the Permian and Mesozoic shelf carbonate sequences. Minor clastic reservoirs occur in the Albian and Paleozoic sequences. Seals, mainly anhydrite and shale. occur both intraformationally and regionally. Several stratigraphic intervals contain source rocks or potential source rocks. The Silurian shales arc the most likely source of the hydrocarbon stored in the upper Paleozoic clastics and carbonates. The upper Oxfordian-middle Kimmeridgian rocks formed in the extensive starved basin during the Mesozoic period of sea level rise. Total organic carbon ranges between 1 and 6%, with the sulfur content approximately 9%. The source material consists of sapropelic liptodetrinite and algae. The geological background of the sedimentary facies through geologic time, stratigraphy, and structural evolution which control source, and the subsequent timing and migration of large-scale hydrocarbon generation are presented in detail.

  9. Medical education and research environment in Qatar: a new epoch for translational research in the Middle East

    PubMed Central

    2011-01-01

    Recent advances in medical technology and key discoveries in biomedical research have the potential to improve human health in an unprecedented fashion. As a result, many of the Arab Gulf countries, particularly Qatar are devoting increasing resources toward establishing centers of excellence in biomedical research. However, there are challenges that must be overcome. The low profile of private medical institutions and their negligible endowments in the region are examples of such challenges. Business-type government controlled universities are not the solution for overcoming the challenges facing higher education and research programs in the Middle East. During the last decade, Qatar Foundation for Education, Science and Community Development has attracted six branch campuses of American Institutions of higher learning to the Education City in Qatar, a 2500-acre area, which is rapidly becoming a model of integrating higher education and research in the region. Not-for profit, time-tested education institutions from abroad in public-private partnership with local organizations offer favorable conditions to build robust research programs in the region. Weill Cornell Medical College in Qatar (WCMC-Q) of Cornell University is an example such an institution. It is the first and only medical school in Qatar. WCMC-Q's interwoven education, research and public health based framework lays a sturdy foundation for developing and implementing translational medicine research programs of importance to the State of Qatar and Middle Eastern nations. This approach is yielding positive results. Discoveries from this program should influence public policy in a positive fashion toward reducing premature mortality and morbidity due to diabetes, obesity, heart disease and cancer, examples of health conditions commonly encountered in Qatar. PMID:21272322

  10. Medical education and research environment in Qatar: a new epoch for translational research in the Middle East.

    PubMed

    Chouchane, Lotfi; Mamtani, Ravinder; Al-Thani, Mohammed H; Al-Thani, Al-Anoud M; Ameduri, Marco; Sheikh, Javaid I

    2011-01-27

    Recent advances in medical technology and key discoveries in biomedical research have the potential to improve human health in an unprecedented fashion. As a result, many of the Arab Gulf countries, particularly Qatar are devoting increasing resources toward establishing centers of excellence in biomedical research. However, there are challenges that must be overcome. The low profile of private medical institutions and their negligible endowments in the region are examples of such challenges. Business-type government controlled universities are not the solution for overcoming the challenges facing higher education and research programs in the Middle East.During the last decade, Qatar Foundation for Education, Science and Community Development has attracted six branch campuses of American Institutions of higher learning to the Education City in Qatar, a 2500-acre area, which is rapidly becoming a model of integrating higher education and research in the region. Not-for profit, time-tested education institutions from abroad in public-private partnership with local organizations offer favorable conditions to build robust research programs in the region. Weill Cornell Medical College in Qatar (WCMC-Q) of Cornell University is an example such an institution. It is the first and only medical school in Qatar.WCMC-Q's interwoven education, research and public health based framework lays a sturdy foundation for developing and implementing translational medicine research programs of importance to the State of Qatar and Middle Eastern nations. This approach is yielding positive results. Discoveries from this program should influence public policy in a positive fashion toward reducing premature mortality and morbidity due to diabetes, obesity, heart disease and cancer, examples of health conditions commonly encountered in Qatar.

  11. Determination of the activity concentration levels of the artificial radionuclide137Cs in soil samples collected from Qatar using high-resolution gamma-ray spectrometry

    NASA Astrophysics Data System (ADS)

    Al-Sulaiti, Huda; Nasir, Tabassum; Al Mugren, K. S.; Alkhomashi, N.; Al-Dahan, N.; Al-Dosari, M.; Bradley, D. A.; Bukhari, S.; Regan, P. H.; Santawamaitre, T.; Malain, D.; Habib, A.; Al-Dosari, Hanan; Daar, Eman

    2016-09-01

    The goal of this study was to establish the first baseline measurements for radioactivity concentration of the artificial radionuclide 137Cs in soil samples collected from the Qatarian peninsula. The work focused on the determination of the activity concentrations levels of man-made radiation in 129 soil samples collected across the landscape of the State of Qatar. All the samples were collected before the most recent accident in Japan, “the 2011 Fukushima Dai-ichi nuclear power plant accident”. The activity concentrations have been measured via high-resolution gamma-ray spectrometry using a hyper-pure germanium detector situated in a low-background environment with a copper inner-plated passive lead shield. A radiological map showing the activity concentrations of 137Cs is presented in this work. The concentration wasfound to range from 0.21 to 15.41 Bq/kg. The highest activity concentration of 137Cs was observed in sample no. 26 in North of Qatar. The mean value was found to be around 2.15 ± 0.27 Bq/kg. These values lie within the expected range relative to the countries in the region. It is expected that this contamination is mainly due to the Chernobyl accident on 26 April 1986, but this conclusion cannot be confirmed because of the lack of data before this accident.

  12. Quantitative genetic study of the adaptive process.

    PubMed

    Shaw, R G; Shaw, F H

    2014-01-01

    The additive genetic variance with respect to absolute fitness, VA(W), divided by mean absolute fitness, , sets the rate of ongoing adaptation. Fisher's key insight yielding this quantitative prediction of adaptive evolution, known as the Fundamental Theorem of Natural Selection, is well appreciated by evolutionists. Nevertheless, extremely scant information about VA(W) is available for natural populations. Consequently, the capacity for fitness increase via natural selection is unknown. Particularly in the current context of rapid environmental change, which is likely to reduce fitness directly and, consequently, the size and persistence of populations, the urgency of advancing understanding of immediate adaptive capacity is extreme. We here explore reasons for the dearth of empirical information about VA(W), despite its theoretical renown and critical evolutionary role. Of these reasons, we suggest that expectations that VA(W) is negligible, in general, together with severe statistical challenges of estimating it, may largely account for the limited empirical emphasis on it. To develop insight into the dynamics of VA(W) in a changing environment, we have conducted individual-based genetically explicit simulations. We show that, as optimizing selection on a trait changes steadily over generations, VA(W) can grow considerably, supporting more rapid adaptation than would the VA(W) of the base population. We call for direct evaluation of VA(W) and in support of prediction of rates adaptive evolution, and we advocate for the use of aster modeling as a rigorous basis for achieving this goal.

  13. A genetic study of male sexual orientation.

    PubMed

    Bailey, J M; Pillard, R C

    1991-12-01

    Homosexual male probands with monozygotic cotwins, dizygotic cotwins, or adoptive brothers were recruited using homophile publications. Sexual orientation of relatives was assessed either by asking relatives directly, or when this was impossible, asking the probands. Of the relatives whose sexual orientation could be rated, 52% (29/56) of monozygotic cotwins, 22% (12/54) of dizygotic cotwins, and 11% (6/57) of adoptive brothers were homosexual. Heritabilities were substantial under a wide range of assumptions about the population base rate of homosexuality and ascertainment bias. However, the rate of homosexuality among nontwin biological siblings, as reported by probands, 9.2% (13/142), was significantly lower than would be predicted by a simple genetic hypothesis and other published reports. A proband's self-reported history of childhood gender non-conformity did not predict homosexuality in relatives in any of the three subsamples. Thus, childhood gender nonconformity does not appear to be an indicator of genetic loading for homosexuality. Cotwins from concordant monozygotic pairs were very similar for childhood gender nonconformity.

  14. [A study on origin of genetic ethics problem and countermeasure].

    PubMed

    Cheng, Yan-Ping

    2008-03-01

    The genetic ethical problem is one of problems which are the most disputable or difficult to resolve perfectly in the fields of life science. In these years the research for the problems is being concentrated on the types of genetic ethical problem and the ways to resolve them. But the systematic research for origin of genetic ethical problem is rare to be known. Thus it seems to be short of theoretical support to bring forward corresponding countermeasure. In this paper we focus on the evolving germ of genetic ethical problem and its evolving rule from the twofold views of human biological evolution and cultural evolution. A human being is a double offspring with biological evolution and cultural evolution . And he is a species which has both biological and cultural attribute on the earth. Through comparing and studying human biological evolution , cultural evolution, and characteristics of both biological attribute and cultural attribute, we bring forward a viewpoint that all ethical problems originate from a conflict originating from interplay of human biological evolution and cultural evolution. We intend to seek for the gist of theory and practice in order to research for genetic ethical problem and put forward some corresponding countermeasures. At the same time we'll advance a series of corresponding countermeasures of genetic ethical problem. The final aim in the paper is that not only some of our opinions will be admitted, but also through learning and understanding genetic ethical problem and its origin, the decision-makers and investigators in genetics field will be promoted to have more sense of fate and responsibility , so that the average public are able to misunderstand less and understand more for studying and genetics applying. We all work hard for genetics career to make it in healthy and continuing development and give a lot of happiness to human beings.

  15. Genetic studies of Unverricht-Luendborg disease

    SciTech Connect

    Lafreniere, R.G.; Dube, M.P.; Rouleau, G.A.

    1994-09-01

    Unverricht-Luendborg disease (ULD) is a progressive myoclonus epilepsy with an age of onset between 6 and 13 years, myoclonic jerks that progressively worsen, and mental deterioration. ULD shows an autosomal recessive mode of inheritance. The ULD gene has been genetically linked to 21q22.3, and more recently estimated to lie within 0.3 cM of the markers PFKL, D21S25, and D21S154, based on linkage disequilibrium. We have previously identified eight families affected with ULD and shown linkage to 21q22.3. In our efforts to identify the metabolic basis of the disease, we have identified several other families with ULD and are testing them for linkage to 21q22.3 We are also constructing a cosmid and YAC contig of the candidate EPM1 region in 21q22.3 and are in the process of identifying candidate genes therefrom.

  16. [The application of genetic risk score in genetic studies of complex human diseases].

    PubMed

    Dayan, Niu; Weili, Yan

    2015-12-01

    Complex diseases such as cardiovascular disease, type 2 diabetes, essential hypertension, asthma, obesity and cancer have spread across the globe and become the predominant cause of death. There are growing concerns over the role of genetic susceptibility in pathogenesis of complex diseases. However, the related susceptibility genes and sequence variations are still unknown. To elucidate the genetic basis of complex diseases, researchers have identified a large number of genetic variants associated with complex diseases through genome-wide association studies (GWAS) and candidate gene studies recently. The identification of these causal and/or associated variants promotes the development of approaches for complex diseases prediction and prevention. Genetic risk score (GRS), an emerging method for exploring correlation between single nucleotide polymorphisms (SNPs) and clinical phenotypes of complex diseases, integrates weak effects of multiple SNPs and dramatically enhances predictability of complex diseases by gene polymorphisms. This method has been applied successfully in genetic studies of many complex diseases. Here we focus on the introduction of the computational methods and evaluation criteria of GRS, enumerate a series of achievements through GRS application, discuss some limitations during application, and finally prospect the future of GRS.

  17. Genetic Association Studies in Lumbar Disc Degeneration: A Systematic Review

    PubMed Central

    Eskola, Pasi J.; Lemmelä, Susanna; Kjaer, Per; Solovieva, Svetlana; Männikkö, Minna; Tommerup, Niels; Lind-Thomsen, Allan; Husgafvel-Pursiainen, Kirsti; Cheung, Kenneth M. C.; Chan, Danny

    2012-01-01

    Objective Low back pain is associated with lumbar disc degeneration, which is mainly due to genetic predisposition. The objective of this study was to perform a systematic review to evaluate genetic association studies in lumbar disc degeneration as defined on magnetic resonance imaging (MRI) in humans. Methods A systematic literature search was conducted in MEDLINE, MEDLINE In-Process, SCOPUS, ISI Web of Science, The Genetic Association Database and The Human Genome Epidemiology Network for information published between 1990–2011 addressing genes and lumbar disc degeneration. Two investigators independently identified studies to determine inclusion, after which they performed data extraction and analysis. The level of cumulative genetic association evidence was analyzed according to The HuGENet Working Group guidelines. Results Fifty-two studies were included for review. Forty-eight studies reported at least one positive association between a genetic marker and lumbar disc degeneration. The phenotype definition of lumbar disc degeneration was highly variable between the studies and replications were inconsistent. Most of the associations presented with a weak level of evidence. The level of evidence was moderate for ASPN (D-repeat), COL11A1 (rs1676486), GDF5 (rs143383), SKT (rs16924573), THBS2 (rs9406328) and MMP9 (rs17576). Conclusions Based on this first extensive systematic review on the topic, the credibility of reported genetic associations is mostly weak. Clear definition of lumbar disc degeneration phenotypes and large population-based cohorts are needed. An international consortium is needed to standardize genetic association studies in relation to disc degeneration. PMID:23185509

  18. A systematic study of genetic algorithms with genotype editing

    SciTech Connect

    Huang, C. F.; Rocha, L. M.

    2004-01-01

    This paper presents our systematic study on an RNA-editing computational model of Genetic Algorithms (GA). This model is constructed based on several genetic editing characteristics that are gleaned from the RNA editing system as observed in several organisms. We have expanded the traditional Genetic Algorithm with artificial editing mechanisms as proposed by [15]. The incorporation of editing mechanisms provides a means for artificial agents with genetic descriptions to gain greater phenotypic plasticity, which may be environmentally regulated. The systematic study of this RNA-editing model has shed some light into the evolutionary implications of RNA editing and how to select proper RNA editors for design of more robust GAS. The results will also show promising applications to complex real-world problems. We expect that the framework proposed will both facilitate determining the evolutionary role of RNA editing in biology, and advance the current state of research in Evolutionary Computation.

  19. A rangewide population genetic study of trumpeter swans

    USGS Publications Warehouse

    Oyler-McCance, S.J.; Ransler, F.A.; Berkman, L.K.; Quinn, T.W.

    2007-01-01

    For management purposes, the range of naturally occurring trumpeter swans (Cygnus buccinator) has been divided into two populations, the Pacific Coast Population (PP) and the Rocky Mountain Population (RMP). Little is known about the distribution of genetic variation across the species' range despite increasing pressure to make difficult management decisions regarding the two populations and flocks within them. To address this issue, we used rapidly evolving genetic markers (mitochondrial DNA sequence and 17 nuclear microsatellite loci) to elucidate the underlying genetic structure of the species. Data from both markers revealed a significant difference between the PP and RMP with the Yukon Territory as a likely area of overlap. Additionally, we found that the two populations have somewhat similar levels of genetic diversity (PP is slightly higher) suggesting that the PP underwent a population bottleneck similar to a well-documented one in the RMP. Both genetic structure and diversity results reveal that the Tri-State flock, a suspected unique, non-migratory flock, is not genetically different from the Canadian flock of the RMP and need not be treated as a unique population from a genetic standpoint. Finally, trumpeter swans appear to have much lower mitochondrial DNA variability than other waterfowl studied thus far which may suggest a previous, species-wide bottleneck. ?? 2007 Springer Science+Business Media, Inc.

  20. Genetically engineered humanized mouse models for preclinical antibody studies.

    PubMed

    Proetzel, Gabriele; Wiles, Michael V; Roopenian, Derry C

    2014-04-01

    The use of genetic engineering has vastly improved our capabilities to create animal models relevant in preclinical research. With the recent advances in gene-editing technologies, it is now possible to very rapidly create highly tunable mouse models as needs arise. Here, we provide an overview of genetic engineering methods, as well as the development of humanized neonatal Fc receptor (FcRn) models and their use for monoclonal antibody in vivo studies.

  1. Combining genetic association study designs: a GWAS case study.

    PubMed

    Estus, Janice L; Fardo, David W

    2013-01-01

    Genome-wide association studies (GWAS) explore the relationship between genome variability and disease susceptibility with either population- or family-based data. Here, we have evaluated the utility of combining population- and family-based statistical association tests and have proposed a method for reducing the burden of multiple testing. Unrelated singleton and parent-offspring trio cases and controls from the Genetics of Kidneys in Diabetes (GoKinD) study were analyzed for genetic association with diabetic nephropathy (DN) in type 1 diabetics (T1D). The Cochran-Armitage test for trend and the family-based association test were employed using either unrelated cases and controls or trios, respectively. In addition to combining single nucleotide polymorphism (SNP) p-values across these tests via Fisher's method, we employed a novel screening approach to rank SNPs based on conditional power for more efficient testing. Using either the population-based or family-based subset alone predictably limited resolution to detect DN SNPs. For 384,197 SNPs passing quality control (QC), none achieved strict genome-wide significance (1.4 × 10(-7)) using 1171 singletons (577/594 cases/controls) or 1738 pooled singletons and offspring probands (841/897). Similarly, none of the 352,004 SNPs passing QC in 567 family trios (264/303 case/control proband trios) reached genome-wide significance. Testing the top 10 SNPs ranked using aggregated conditional power resulted in two SNPs reaching genome-wide significance, rs11645147 on chromosome 16 (p = 1.74 × 10(-4) < 0.05/10 = 0.005) and rs7866522 on chromosome 9 (p = 0.0033). Efficient usage of mixed designs incorporating both unrelated and family-based data may help to uncover associations otherwise difficult to detect in the presence of massive multiple testing corrections. Capitalizing on the strengths of both types while using screening approaches may be useful especially in light of large-scale, next-generation sequencing and rare

  2. Combining genetic association study designs: a GWAS case study

    PubMed Central

    Estus, Janice L.; Fardo, David W.

    2013-01-01

    Genome-wide association studies (GWAS) explore the relationship between genome variability and disease susceptibility with either population- or family-based data. Here, we have evaluated the utility of combining population- and family-based statistical association tests and have proposed a method for reducing the burden of multiple testing. Unrelated singleton and parent-offspring trio cases and controls from the Genetics of Kidneys in Diabetes (GoKinD) study were analyzed for genetic association with diabetic nephropathy (DN) in type 1 diabetics (T1D). The Cochran-Armitage test for trend and the family-based association test were employed using either unrelated cases and controls or trios, respectively. In addition to combining single nucleotide polymorphism (SNP) p-values across these tests via Fisher's method, we employed a novel screening approach to rank SNPs based on conditional power for more efficient testing. Using either the population-based or family-based subset alone predictably limited resolution to detect DN SNPs. For 384,197 SNPs passing quality control (QC), none achieved strict genome-wide significance (1.4 × 10−7) using 1171 singletons (577/594 cases/controls) or 1738 pooled singletons and offspring probands (841/897). Similarly, none of the 352,004 SNPs passing QC in 567 family trios (264/303 case/control proband trios) reached genome-wide significance. Testing the top 10 SNPs ranked using aggregated conditional power resulted in two SNPs reaching genome-wide significance, rs11645147 on chromosome 16 (p = 1.74 × 10−4 < 0.05/10 = 0.005) and rs7866522 on chromosome 9 (p = 0.0033). Efficient usage of mixed designs incorporating both unrelated and family-based data may help to uncover associations otherwise difficult to detect in the presence of massive multiple testing corrections. Capitalizing on the strengths of both types while using screening approaches may be useful especially in light of large-scale, next-generation sequencing and rare

  3. Physician and medical student perceptions and expectations of the pediatric clerkship: a Qatar experience

    PubMed Central

    Hendaus, Mohamed A; Khan, Shabina; Osman, Samar; Alsamman, Yasser; Khanna, Tushar; Alhammadi, Ahmed H

    2016-01-01

    Background The average number of clerkship weeks required for the pediatric core rotation by the US medical schools is significantly lower than those required for internal medicine or general surgery. Objective The objective behind conducting this survey study was to explore the perceptions and expectations of medical students and pediatric physicians about the third-year pediatric clerkship. Methods An anonymous survey questionnaire was distributed to all general pediatric physicians at Hamad Medical Corporation and to students from Weill Cornell Medical College-Qatar. Results Feedback was obtained from seven attending pediatricians (100% response rate), eight academic pediatric fellow physicians (100% response rate), 36 pediatric resident physicians (60% response rate), and 36 medical students (60% response rate). Qualitative and quantitative data values were expressed as frequencies along with percentages and mean ± standard deviation and median and range. A P-value <0.05 from a 2-tailed t-test was considered to be statistically significant. Participants from both sides agreed that medical students receive <4 hours per week of teaching, clinical rounds is the best environment for teaching, adequate bedside is provided, and that there is no adequate time for both groups to get acquainted to each other. On the other hand, respondents disagreed on the following topics: almost two-thirds of medical students perceive postgraduate year 1 and 2 pediatric residents as the best teachers, compared to 29.4% of physicians; 3 weeks of inpatient pediatric clerkship is enough for learning; the inpatient pediatric environment is safe and friendly; adequate feedback is provided by physicians to students; medical students have accessibility to physicians; students are encouraged to practice evidence-based medicine; and students get adequate exposure to multi-professional teams. Conclusion Assigning devoted physicians for education, providing proper job description or definition

  4. International note: exploring differences in native and immigrant adolescents' mathematics achievement and dispositions towards mathematics in Qatar.

    PubMed

    Areepattamannil, Shaljan; Melkonian, Michael; Khine, Myint Swe

    2015-04-01

    The burgeoning immigrant population in major immigrant-receiving countries in North America and Europe has necessitated researchers and policymakers in these countries to examine the academic success of children of immigration and the factors contributing to their academic success. However, there is sparse research on the academic trajectories of children of immigration in other continents, such as Asia. Hence, the purpose of the present study was to examine first- and second-generation immigrant adolescents' mathematics achievement and dispositions towards mathematics in comparison to their native peers in one of the Middle Eastern countries in Asia, Qatar. The results of the study indicated that both first- and second-generation immigrant adolescents tended to have higher mathematics achievement, intrinsic motivation to learn mathematics, instrumental motivation to learn mathematics, mathematics self-efficacy, and mathematics self-concept than did their native counterparts. Moreover, immigrant adolescents tended to have lower mathematics anxiety than did their native peers. The study also revealed significant differences between first- and second-generation immigrant adolescents with respect to their mathematics achievement and dispositions towards mathematics.

  5. Molecular Genetic Strategies in the Study of Corticohippocampal Circuits.

    PubMed

    Angelakos, Christopher C; Abel, Ted

    2015-07-01

    The first reproductively viable genetically modified mice were created in 1982 by Richard Palmiter and Ralph Brinster (Palmiter RD, Brinster RL, Hammer RE, Trumbauer ME, Rosenfeld MG, Birnberg NC, Evans RM. 1982. Dramatic growth of mice that develop from eggs microinjected with metallothionein-growth hormone fusion genes. Nature 300: 611-615). In the subsequent 30 plus years, numerous ground-breaking technical advancements in genetic manipulation have paved the way for improved spatially and temporally targeted research. Molecular genetic studies have been especially useful for probing the molecules and circuits underlying how organisms learn and remember—one of the most interesting and intensively investigated questions in neuroscience research. Here, we discuss selected genetic tools, focusing on corticohippocampal circuits and their implications for understanding learning and memory. PMID:26134320

  6. Genetically Engineered Mouse Models for Studying Inflammatory Bowel Disease

    PubMed Central

    Mizoguchi, Atsushi; Takeuchi, Takahito; Himuro, Hidetomo; Okada, Toshiyuki; Mizoguchi, Emiko

    2015-01-01

    Inflammatory bowel disease (IBD) is a chronic intestinal inflammatory condition that is mediated by very complex mechanisms controlled by genetic, immune, and environmental factors. More than 74 kinds of genetically engineered mouse strains have been established since 1993 for studying IBD. Although mouse models cannot fully reflect human IBD, they have provided significant contributions for not only understanding the mechanism, but also developing new therapeutic means for IBD. Indeed, 20 kinds of genetically engineered mouse models carry the susceptibility genes identified in human IBD, and the functions of some other IBD susceptibility genes have also been dissected out using mouse models. Cutting-edge technologies such as cell-specific and inducible knockout systems, which were recently employed to mouse IBD models, have further enhanced the ability of investigators to provide important and unexpected rationales for developing new therapeutic strategies for IBD. In this review article, we briefly introduce 74 kinds of genetically engineered mouse models that spontaneously develop intestinal inflammation. PMID:26387641

  7. Genetic studies among endogamous groups of Saraswats in Western India.

    PubMed

    Bhatia, H M; Shanbhag, S R; Baxi, A J; Bapat, J; Sathe, M S; Sharma, R S; Kabeer, H; Bharucha, Z S; Surlacar, L

    1976-01-01

    Three groups of Saraswat Brahmans in Western India and a group of Goan Catholics ethnologically related to Saraswats were studied for various genetic markers. Saraswats have higher A than B with an Rh(D)-negative incidence ranging from 10 to 17%. All the groups have low incidence of G-6-PD deficiency (up to 1%). Incidence of thalassaemia trait ranges from 1 to 6%. Gm(1) was present in 85-87%. Intergroup differences suggest genetic closeness between the various groups with genetic distance ranging from 0.8 to 1.5. Genetic relationship between Goan Catholics and Chitrapur Saraswats confirms the ethnological and historical evidence of relationship between the two groups.

  8. Multivariate analysis in a genetic divergence study of Psidium guajava.

    PubMed

    Nogueira, A M; Ferreira, M F S; Guilhen, J H S; Ferreira, A

    2014-01-01

    The family Myrtaceae is widespread in the Atlantic Forest and is well-represented in the Espírito Santo State in Brazil. In the genus Psidium of this family, guava (Psidium guajava L.) is the most economically important species. Guava is widely cultivated in tropical and subtropical countries; however, the widespread cultivation of only a small number of guava tree cultivars may cause the genetic vulnerability of this crop, making the search for promising genotypes in natural populations important for breeding programs and conservation. In this study, the genetic diversity of 66 guava trees sampled in the southern region of Espírito Santo and in Caparaó, MG, Brazil were evaluated. A total of 28 morphological descriptors (11 quantitative and 17 multicategorical) and 18 microsatellite markers were used. Principal component, discriminant and cluster analyses, descriptive analyses, and genetic diversity analyses using simple sequence repeats were performed. Discrimination of accessions using molecular markers resulted in clustering of genotypes of the same origin, which was not observed using morphological data. Genetic diversity was detected between and within the localities evaluated, regardless of the methodology used. Genetic differentiation among the populations using morphological and molecular data indicated the importance of the study area for species conservation, genetic erosion estimation, and exploitation in breeding programs. PMID:25526187

  9. Multivariate analysis in a genetic divergence study of Psidium guajava.

    PubMed

    Nogueira, A M; Ferreira, M F S; Guilhen, J H S; Ferreira, A

    2014-12-18

    The family Myrtaceae is widespread in the Atlantic Forest and is well-represented in the Espírito Santo State in Brazil. In the genus Psidium of this family, guava (Psidium guajava L.) is the most economically important species. Guava is widely cultivated in tropical and subtropical countries; however, the widespread cultivation of only a small number of guava tree cultivars may cause the genetic vulnerability of this crop, making the search for promising genotypes in natural populations important for breeding programs and conservation. In this study, the genetic diversity of 66 guava trees sampled in the southern region of Espírito Santo and in Caparaó, MG, Brazil were evaluated. A total of 28 morphological descriptors (11 quantitative and 17 multicategorical) and 18 microsatellite markers were used. Principal component, discriminant and cluster analyses, descriptive analyses, and genetic diversity analyses using simple sequence repeats were performed. Discrimination of accessions using molecular markers resulted in clustering of genotypes of the same origin, which was not observed using morphological data. Genetic diversity was detected between and within the localities evaluated, regardless of the methodology used. Genetic differentiation among the populations using morphological and molecular data indicated the importance of the study area for species conservation, genetic erosion estimation, and exploitation in breeding programs.

  10. A comparative phylogenetic study of genetics and folk music.

    PubMed

    Pamjav, Horolma; Juhász, Zoltán; Zalán, Andrea; Németh, Endre; Damdin, Bayarlkhagva

    2012-04-01

    Computer-aided comparison of folk music from different nations is one of the newest research areas. We were intrigued to have identified some important similarities between phylogenetic studies and modern folk music. First of all, both of them use similar concepts and representation tools such as multidimensional scaling for modelling relationship between populations. This gave us the idea to investigate whether these connections are merely accidental or if they mirror population migrations from the past. We raised the question; does the complex structure of musical connections display a clear picture and can this system be interpreted by the genetic analysis? This study is the first to systematically investigate the incidental genetic background of the folk music context between different populations. Paternal (42 populations) and maternal lineages (56 populations) were compared based on Fst genetic distances of the Y chromosomal and mtDNA haplogroup frequencies. To test this hypothesis, the corresponding musical cultures were also compared using an automatic overlap analysis of parallel melody styles for 31 Eurasian nations. We found that close musical relations of populations indicate close genetic distances (<0.05) with a probability of 82%. It was observed that there is a significant correlation between population genetics and folk music; maternal lineages have a more important role in folk music traditions than paternal lineages. Furthermore, the combination of these disciplines establishing a new interdisciplinary research field of "music-genetics" can be an efficient tool to get a more comprehensive picture on the complex behaviour of populations in prehistoric time.

  11. Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals.

    PubMed

    Kowal, Emma; Gallacher, Lyndon; Macciocca, Ivan; Sahhar, Margaret

    2015-08-01

    Indigenous populations are thought to have particularly low levels of access to genetic health services, and cultural issues may be a contributing factor. This article presents the findings of the first study of genetic health service provision to Indigenous Australians. This qualitative study aimed to identify elements of culturally-competent genetic health service provision in Indigenous Australian contexts. Twelve semi-structured interviews were conducted with genetic counselors and clinical geneticists from around Australia who had delivered services to Indigenous Australians. Participants were asked to describe their experiences and identify any collective cultural needs of Indigenous clients, as well as comment on specific training and resources they had received or used. Interviews were audio-recorded and transcribed with thematic analysis conducted on the data. The findings show that participants were reluctant to generalize the needs of Indigenous peoples. Some participants asserted that Indigenous peoples have needs that differ from the general population, while others felt that there were no collective cultural needs, instead advocating an individualized approach. Being flexible and practical, taking time to build rapport, recognizing different family structures and decision-making processes, as well as socio-economic disadvantage were all identified as important factors in participants' interactions with Indigenous clients. Indigenous support workers and hospital liaison officers were seen as valuable resources for effective service provision. The implications of this study for training and practice are discussed.

  12. Consent for genetic research in the Framingham Heart Study.

    PubMed

    Levy, Daniel; Splansky, Greta Lee; Strand, Nicolle K; Atwood, Larry D; Benjamin, Emelia J; Blease, Susan; Cupples, L Adrienne; D'Agostino, Ralph B; Fox, Caroline S; Kelly-Hayes, Margaret; Koski, Greg; Larson, Martin G; Mutalik, Karen M; Oberacker, Elizabeth; O'Donnell, Christopher J; Sutherland, Patrice; Valentino, Maureen; Vasan, Ramachandran S; Wolf, Philip A; Murabito, Joanne M

    2010-05-01

    Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease, including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investigators. To study this we calculated percentages of participants who consented to collection of DNA and to various uses of their genetic information in two FHS cohorts between 2002 and 2009. The data included rates of consent for providing a DNA sample, creating an immortalized cell line, conducting research on various genetic conditions including those that might be considered sensitive, and for notifying participants of clinically significant genetic findings were above 95%. Only with regard to granting permission to share DNA or genetic findings with for-profit companies was the consent rate below 95%. We concluded that the FHS has maintained high rates of retention and consent for genetic research that has provided the scientific freedom to establish collaborations and address a broad range of research questions. We speculate that our high rates of consent have been achieved by establishing frequent and open communications with participants that highlight extensive oversight procedures. Our approach to maintaining high consent rates via ethical oversight of genetic research and communication with study participants is summarized in this report and should be of help to other studies engaged in similar types of research. Published 2010 Wiley-Liss, Inc. PMID:20425830

  13. Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study

    ERIC Educational Resources Information Center

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

  14. Toxoplasma gondii Seropositivity and Co-Infection with TORCH Pathogens in High-Risk Patients from Qatar

    PubMed Central

    Abu-Madi, Marawan A.; Behnke, Jerzy M.; Dabritz, Haydee A.

    2010-01-01

    Testing of patients who are deemed to be at high risk for TORCH pathogens, e.g., pregnant women, their fetuses, neonates, and acquired immunodeficiency syndrome (AIDS) patients, is important so that specific treatment can be initiated. This study included 1,857 such patients between 2005 and 2008. Logistic regression was used to evaluate factors associated with Toxoplasma gondii seropositivity. Among 823 women of childbearing age, 35.1% and 5.2% tested positive for T. gondii IgG and IgM, respectively. Three infants ≤ 6 months of age (0.8% of 353) were congenitally infected. Factors associated with T. gondii IgG seropositivity included older age, East Mediterranean or African nationality, positive cytomegalovirus (CMV) and herpes simplex virus (HSV)-1 serostatus, and negative rubella IgG results. The decreasing prevalence of IgM antibodies between 2005 and 2008 suggested that exposure to T. gondii from food or environmental sources declined over this period in Qatar. Population-based studies of newborns would be helpful to accurately estimate incidence of congenital toxoplasmosis. PMID:20348511

  15. WONOEP appraisal: new genetic approaches to study epilepsy

    PubMed Central

    Rossignol, Elsa; Kobow, Katja; Simonato, Michele; Loeb, Jeffrey A.; Grisar, Thierry; Gilby, Krista L.; Vinet, Jonathan; Kadam, Shilpa D.; Becker, Albert J.

    2014-01-01

    Objective New genetic investigation techniques, including next-generation sequencing, epigenetic profiling, cell lineage mapping, targeted genetic manipulation of specific neuronal cell types, stem cell reprogramming and optogenetic manipulations within epileptic networks are progressively unravelling the mysteries of epileptogenesis and ictogenesis. These techniques have opened new avenues to discover the molecular basis of epileptogenesis and to study the physiological impacts of mutations in epilepsy-associated genes on a multilayer level, from cells to circuits. Methods This manuscript reviews recently published applications of these new genetic technologies in the study of epilepsy, as well as work presented by the authors at the genetic session of the XII Workshop on the Neurobiology of Epilepsy in Quebec, Canada. Results Next-generation sequencing is providing investigators with an unbiased means to assess the molecular causes of sporadic forms of epilepsy and have revealed the complexity and genetic heterogeneity of sporadic epilepsy disorders. To assess the functional impact of mutations in these newly identified genes on specific neuronal cell-types during brain development, new modeling strategies in animals, including conditional genetics in mice and in utero knockdown approaches, are enabling functional validation with exquisite cell-type and temporal specificity. In addition, optogenetics, using cell-type specific Cre recombinase driver lines, is enabling investigators to dissect networks involved in epilepsy. Genetically-encoded cell-type labeling is also providing new means to assess the role of the non-neuronal components of epileptic networks such as glial cells. Furthermore, beyond its role in revealing coding variants involved in epileptogenesis, next-generation sequencing can be used to assess the epigenetic modifications that lead to sustained network hyperexcitability in epilepsy, including methylation changes in gene promoters and non

  16. Road traffic fatalities in Qatar, Jordan and the UAE: estimates using regression analysis and the relationship with economic growth.

    PubMed

    Bener, A; Hussain, S J; Al-Malki, M a; Shotar, M M; Al-Said, M F; Jadaan, K S

    2010-03-01

    Smeed's equation is a widely used model for prediction of traffic fatalities but has been inadequate for use in developing countries. We applied regression analysis to time-series data on vehicles, exponential models for fatality prediction, producing an average absolute error of 20.9% for Qatar, 10.9% for population and traffic fatalities in the United Arab Emirates (UAE), Jordan and Qatar. The data were fitted to Jordan and 5.5% for the UAE. We found a strong linear relationship between gross domestic product and fatality rate.

  17. Changing trends in intestinal parasitic infections among long-term-residents and settled immigrants in Qatar

    PubMed Central

    2010-01-01

    Background The rapid socio-economic development in Qatar in the last two decades has encouraged a mass influx of immigrant workers, the majority of whom originate from countries with low socio-economic levels, inadequate medical care and many are known to carry patent intestinal helminth and protozoan infections on arrival in Qatar. Some eventually acquire residency status but little is known about whether they continue to harbour infections. Methods We examined 9208 hospital records of stool samples that had been analysed for the presence of intestinal helminth and protozoan ova/cysts, over the period 2005-2008, of subjects from 28 nationalities, but resident in Qatar and therefore not recent arrivals in the country. Results Overall 10.2% of subjects were infected with at least one species, 2.6% with helminths and 8.0% with protozoan species. Although hookworms, Ascaris lumbricoides, Trichuris trichiura and Hymenolepis nana were observed, the majority of helminth infections (69%) were caused by hookworms, and these were largely aggregated among 20.0-39.9 year-old male subjects from Nepal. The remaining cases of helminth infection were mostly among Asian immigrants. Protozoan infections were more uniformly spread across immigrants from different regions when prevalence was calculated on combined data, but this disguised three quite contrasting underlying patterns for 3 taxa of intestinal protozoa. Blastocystis hominis, Giardia duodenalis and non-pathogenic amoebae were all acquired in childhood, but whereas prevalence of B. hominis rose to a plateau and then even further among the elderly, prevalence of G. duodenalis fell markedly in children aged 10 and older, and stayed low (< 2%) gradually falling even further in the elderly. In contrast the prevalence of non-pathogenic amoebae (Entamoeba coli, E. hartmanni, Endolimax nana and Iodamoeba buetschlii) peaked in the 30.0-39.9 age group and only then dropped to very low values among the oldest subjects examined. A

  18. Hypoxia in the central Arabian Gulf Exclusive Economic Zone (EEZ) of Qatar during summer season

    NASA Astrophysics Data System (ADS)

    Al-Ansari, Ebrahim M. A. S.; Rowe, G.; Abdel-Moati, M. A. R.; Yigiterhan, O.; Al-Maslamani, I.; Al-Yafei, M. A.; Al-Shaikh, I.; Upstill-Goddard, R.

    2015-06-01

    One of the most fascinating and unexpected discoveries during the Qatar University Marine Expeditions to the marine Exclusive Economic Zone (EEZ) of Qatar in 2000-2001, was the detection of a hypoxic water layer in the central region of the Arabian Gulf in waters deeper than 50 m. Hypoxia was defined as the region where the concentration of dissolved oxygen was less than 2 mg L-1. This article presents the discovery of hypoxia in the Arabian Gulf, based on samples collected (mainly during evening or night time) from vertical profiles along transects of the EEZ of Qatar and analyzed for physico-chemical properties, nutrients and chlorophyll-a. Hypoxia occurred in the summer months caused by an interaction between physical stratification of the water column that prevents oxygen replenishment, and biological respiration that consumes oxygen. Strong south-westerly winds (the SW monsoon) from June to September drive the relatively low-salinity nutrient-rich surface water from the Arabian Sea/Arabian Gulf (Sea of Oman) through the Strait of Hormuz into the central-Arabian Gulf, and this surface current penetration fertilizes the deep central-Arabian Gulf during the summer period. A strong seasonal pycnocline is formed between deeper waters at an ambient temperature of 20.9 °C and surface waters at 31.9 °C. This prevents the mixing of supersaturated O2 (>100-130%) water from the upper layer that would otherwise raise concentrations of dissolved oxygen below the thermocline, thus resulting in deep water hypoxia, i.e. dissolved oxygen levels of less than 0.86 ml L-1 at 17.3% saturation. These are the lowest values ever recorded for the Arabian Gulf. The calculated area of hypoxia is around 7220 square kilometers, and occurs in a layer about ≥15 m thick above the sea floor which extends toward the deep part of the Qatar Exclusive Economic Zone (EEZ). The biological consequences of this hypoxia on the sea floor are yet to be investigated.

  19. Complex approaches to study complex trait genetics in multiple sclerosis.

    PubMed

    Kálmán, Bernadette

    2014-09-30

    Multiple sclerosis (MS) is a complex trait disorder defined by several genes and their interactions with environmental factors. A comprehensive exploration of the susceptibility variants had not been feasible until recently when new developments in biotechnology and bioinformatics made possible sequencing of the whole human genome, cataloguing of nucleotide variants and alignments of these variants in haplotypes. Earlier observations from epidemiological, candidate gene and linkage studies provided ample evidence to support a complex genetic determination of MS. New biotechnology and bioinformatics resources have been recently applied to further successful explorations of the disease. These efforts were paralleled by more careful and reliable ascertainments of disease phenotypes, collaborations among specialized centers to generate sufficient sample size and involvement of clinician-scientists capable of working both on the clinical and scientific study sides. Data obtained from the whole genome association studies (GWAS) elevated our understanding of MS genetics to a new level by identifying an extensive list of genetic determinants. Pathway analyses of MS-associated variants provided evidence to support the immune etiology of the disease. Future research will likely explore how environmental factors interact with the genome, and contribute to the abnormal immune activation and inflammation. This review summarizes the outcomes of MS genetic explorations including those of recent GWAS, and highlights practical consequences of genetic and genomic studies by pointing out as to how the derived data facilitate further elucidation of MS pathogenesis. A better understanding of disease processes is necessary for future advancements in therapeutics and the development of disease prevention strategies.

  20. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance

    PubMed Central

    Aïssa, Brahim; Isaifan, Rima J.; Madhavan, Vinod E.; Abdallah, Amir A.

    2016-01-01

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed. PMID:27526667

  1. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance

    NASA Astrophysics Data System (ADS)

    Aïssa, Brahim; Isaifan, Rima J.; Madhavan, Vinod E.; Abdallah, Amir A.

    2016-08-01

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed.

  2. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance.

    PubMed

    Aïssa, Brahim; Isaifan, Rima J; Madhavan, Vinod E; Abdallah, Amir A

    2016-01-01

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed. PMID:27526667

  3. Structural and physical properties of the dust particles in Qatar and their influence on the PV panel performance.

    PubMed

    Aïssa, Brahim; Isaifan, Rima J; Madhavan, Vinod E; Abdallah, Amir A

    2016-08-16

    Recently, extensive R&D has been conducted, both by industry and academia, to significantly raise the conversion efficiency of commercial photovoltaic (PV) modules. The installation of PV systems aimed at optimizing solar energy yield is primarily dictated by its geographic location and installation design to maximize solar exposure. However, even when these characteristics have been addressed appropriately, there are other factors that adversely affect the performance of PV systems, namely the temperature-induced voltage decrease leading to a PV power loss, and the dust accumulation (soiling). The latter is the lesser acknowledged factor that significantly influences the performance of PV installations especially in the Middle East region. In this paper we report on the investigation of the structural and physical properties of the desert-dust particles in the State of Qatar. The dust particles were collected directly from the PV panels installed in desert environment and characterized by different techniques, including scanning electron, optical and atomic force microscopies, X-ray diffraction, energy-dispersive, UV-Vis, micro-Raman and Fourier transform infrared spectroscopy. The vibrating sample magnetometry analyses were also conducted to study the magnetic properties of the dust particles. The influence of the dust accumulation on the PV panel performance was also presented and discussed.

  4. Phytoplankton along the coastal shelf of an oligotrophic hypersaline environment in a semi-enclosed marginal sea: Qatar (Arabian Gulf)

    NASA Astrophysics Data System (ADS)

    Quigg, Antonietta; Al-Ansi, Mohsin; Al Din, Nehad Nour; Wei, Chih-Lin; Nunnally, Clifton C.; Al-Ansari, Ibrahim S.; Rowe, Gilbert T.; Soliman, Yousria; Al-Maslamani, Ibrahim; Mahmoud, Ismail; Youssef, Nabiha; Abdel-Moati, Mohamed A.

    2013-06-01

    Phytoplankton biomass (chlorophyll a concentration), primary production, abundance, species diversity and species groupings were measured in the coastal waters surrounding Qatar (Arabian Gulf) at 13 stations in February 2010, July 2010, February 2011 and May 2011. In addition, a broad suite of physico-chemical characteristics were measured: temperature, salinity, pH, dissolved oxygen, turbidity, and nutrients (dissolved and particulate). Waters surrounding the Qatari peninsula were found to be highly diverse (125 species of diatoms, dinoflagellates and cyanobacteria were identified) but were low in both biomass (0.18-2.19 μg Chl a l-1) and productivity (0.14-0.97 mg C m-2 day-1). Phytoplankton physiology (Fv/Fm, σPSII, τQa, p) revealed acclimation strategies consistent with phytoplankton populations receiving ample light but insufficient nutrients. The finding of low primary production is consistent with water column nutrient ratios (DIN:P and DIN:Si ratios<1) and nutrient enrichment experiments in which the addition of nitrate or the addition of near-bottom waters stimulated biomass production of phytoplankton. This study in an oligotrophic, hypersaline semi-enclosed marginal sea is intended to contribute to the growing body of ecological information on this ecosystem functions.

  5. Major study commencing into genetic discrimination in Australia.

    PubMed

    Otlowski, Margaret F; Taylor, Sandra D; Barlow-Stewart, Kristine K

    2002-08-01

    This article describes a nationwide empirical study that will be undertaken during the next three years into the newly emerging phenomenon of genetic discrimination. In particular, the study aims to investigate the nature and extent of genetic discrimination in Australia across three key perspectives: consumers, third parties and the legal system. Further, the study aims to examine the social and legal implications of genetic discrimination, with a view to making recommendations for use in the Australian legal and policy context. It is anticipated that the data produced from this multifaceted investigation will assist in identifying areas where legal or other reforms are required. It will contribute significant baseline data for facilitating ongoing assessment of the nature and extent of the problem, as well as for longitudinal evaluation of the impact and effectiveness of any reforms which may be introduced in the future to address the issue. PMID:12242882

  6. Recruiting American Indian Women for a Genetic Epidemiology Study

    PubMed Central

    Nadeau, M.; Best, L.

    2010-01-01

    Due to previous negative experiences, some American Indian communities are distrustful of research in general and genetic research in particular. The Turtle Mountain Community College was awarded a National Institutes of Health (NIH) grant with 3 aims: (1) to study possible genetic influences on pre-eclampsia, (2) to encourage tribal college students to consider biomedical careers and (3) to develop the local research infrastructure. Retrospectively identified case (91) and control (188) participants were recruited into Phase I over a 3-year period and additional participants (71) were concurrently recruited from a prenatal clinic into a prospective case/control study, Phase II. This paper describes some of the challenges and solutions we encountered in the process of recruiting American Indian participants into a genetic epidemiologic study. PMID:20616521

  7. Does Childhood Anxiety Evoke Maternal Control? A Genetically Informed Study

    ERIC Educational Resources Information Center

    Eley, Thalia C.; Napolitano, Maria; Lau, Jennifer Y. F.; Gregory, Alice M.

    2010-01-01

    Background: Despite theoretical and empirical support for an association between maternal control and child anxiety, few studies have examined the origins of this association. Furthermore, none use observer-ratings of maternal control within a genetically informative design. This study addressed three questions: 1) do children who experience…

  8. Functional genetic studies of the tarnished plant bug

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The tarnished plant bug (TPB), Lygus lineolaris (Palisot de Beuvois) has become a primary pest of cotton in the Mississippi Delta. To identify new techological and genetic methods to control TPB, studies have begun to focus on genes expressed by the insect. Initial studies on interference of transcr...

  9. Genetics in Practice: A Template for Interactive Case Studies.

    ERIC Educational Resources Information Center

    Edwards, Erin; Walker, Andy; Bergeson, Kathleen; Louviere, John; Robinson, Kris; Higgins, Joseph; Harris, Charles

    2001-01-01

    Describes the development of a template for interactive case studies that was used for an online continuing medical education course on genetics for health care providers. Discusses goals of the template system, including the production of additional case studies with no additional programming costs and easy updating capabilities. (LRW)

  10. Why Is Studying the Genetics of Intelligence So Controversial?

    PubMed

    Tabery, James

    2015-01-01

    From the very beginning, studies of the nature and nurture of intelligence have been closely associated with an interest in intervening, and those interventions have been surrounded by controversy. The nature of those controversies has not always been the same, however. Since the mid-nineteenth century, when Francis Galton imagined a science that would assess the extent to which a trait like "genius" was due to nature or due to nurture, science and technology have changed dramatically, and so have the interventions that have been envisioned in light of those developments. A scientist today can search for particular stretches of DNA and assess whether differences in those stretches are associated with differences in a human trait of interest; a genetic counselor today can genetically test an individual (be it an embryo, fetus, newborn, child, or adult) and provide information about what that genetic result means, allowing for interventions that can range from terminating a pregnancy to prescribing chemotherapy. So when one asks a question like, "Why is studying the genetics of intelligence controversial?," it is important to realize up front that the answer will be, "It can be controversial for a variety of different reasons, and those reasons have evolved over time." The purpose of this essay is to provide a survey of the controversies that surround genetic studies of intelligence. With the survey in place, I will then draw out several lessons both for scientists who study the genetics of intelligence as well as for science studies scholars (bioethicists, philosophers, historians, sociologists) who reflect and comment on the controversies surrounding that research. PMID:26413953

  11. Why Is Studying the Genetics of Intelligence So Controversial?

    PubMed

    Tabery, James

    2015-01-01

    From the very beginning, studies of the nature and nurture of intelligence have been closely associated with an interest in intervening, and those interventions have been surrounded by controversy. The nature of those controversies has not always been the same, however. Since the mid-nineteenth century, when Francis Galton imagined a science that would assess the extent to which a trait like "genius" was due to nature or due to nurture, science and technology have changed dramatically, and so have the interventions that have been envisioned in light of those developments. A scientist today can search for particular stretches of DNA and assess whether differences in those stretches are associated with differences in a human trait of interest; a genetic counselor today can genetically test an individual (be it an embryo, fetus, newborn, child, or adult) and provide information about what that genetic result means, allowing for interventions that can range from terminating a pregnancy to prescribing chemotherapy. So when one asks a question like, "Why is studying the genetics of intelligence controversial?," it is important to realize up front that the answer will be, "It can be controversial for a variety of different reasons, and those reasons have evolved over time." The purpose of this essay is to provide a survey of the controversies that surround genetic studies of intelligence. With the survey in place, I will then draw out several lessons both for scientists who study the genetics of intelligence as well as for science studies scholars (bioethicists, philosophers, historians, sociologists) who reflect and comment on the controversies surrounding that research.

  12. Reverse Genetics System for Studying Human Rhinovirus Infections

    PubMed Central

    Lee, Wai-Ming; Wang, Wensheng; Bochkov, Yury A; Lee, Iris

    2015-01-01

    SUMMARY Human rhinovirus (HRV) contains a 7.2 Kb messenger-sense RNA genome which is the template for reproducing progeny viruses after it enters the cytoplasm of a host cell. Reverse genetics refers to the regeneration of progeny viruses from an artificial cDNA copy of the RNA genome of an RNA virus. It has been a powerful molecular genetic tool for studying HRV and other RNA viruses because the artificial DNA stage makes it practical to introduce specific mutations into the viral RNA genome. This chapter uses HRV-16 as the model virus to illustrate the strategy and the methods for constructing and cloning the artificial cDNA copy of a full-length HRV genome, identifying the infectious cDNA clone isolates, and selecting the most vigorous cDNA clone isolate to serve as the standard parental clone for future molecular genetic study of the virus. PMID:25261313

  13. Genetic studies in pediatric ITP: outlook, feasibility and requirements

    PubMed Central

    Bergmann, Anke K.; Grace, Rachael F.; Neufeld, Ellis J.

    2010-01-01

    The genomic revolution in medicine has not escaped attention of clinicians and scientists involved in medical management and research studies of immune thrombocytopenic purpura (ITP). In principle, ITP biology and care will benefit greatly from modern methods to understand the patterns of gene expression and genetic markers associated with fundamental parameters of the disease including predictors of remission; risk factors for severity; determinants of response to various therapies; and possibly biological sub-types. However, applying modern genetics to ITP carries severe challenges: (i) achieving adequate sample sizes is a fundamental problem because ITP is rare (and in pediatric ITP, chronic cases constitute only about 1/4 of the total); (ii) familial transmission of childhood ITP is so rare that a convincing pedigree requires consideration of other immunologic or hematologic disorders; (iii) ITP is probably biologically heterogeneous, based on clinical observations, immunological studies and animal models. Here we review the advantages and disadvantages of potential genetic approaches. Sufficient information is available to set reasonable bounds on which genetic analyses of ITP are feasible, and how they are most likely to be accomplished. The highest priority is for accurate phenotypes to compare to genetic analyses. Several registries worldwide hold promise for accomplishing this goal. PMID:20309691

  14. [Studies on genetic relationship of Dioscorea].

    PubMed

    Huang, Han-han; Li, Xia; Gao, Wen-yuan; Xiao, Pei-gen

    2015-09-01

    Based on the results of the morphologic studies on genus Dioscorea, the paper summarized the entire chemical constituent that isolated from this genus and analyzed it with the methods of chemotaxonomy. The rules of the chemical constituent and pharmacodynamic effects were analyzed. Seventeen species which belong to Sect. Stenophora Uline of Dioscorea contain steroidal sapogenin. Other species with different main components such as polysaccharide and tannin have have different effects. This chemotaxonomic view point will conduce to establish a phylogeny of the genus Dioscorea.

  15. [Felines: an alternative in genetic toxicology studies?].

    PubMed

    Zamora-Perez, Ana; Gómez-Meda, Belinda C; Ramos-Ibarra, Maria L; Batista-González, Cecilia M; Luna-Aguirre, Jaime; González-Rodríguez, Andrés; Rodríguez-Avila, José L; Zúñiga-González, Guillermo M

    2008-06-01

    The micronuclei (MN) test carry out in peripheral blood is fast, simple, economic and it is used to detect genotoxic environmental agents. MN are fragments of chromosomes or complete chromosomes remaining in the cytoplasm after cell division, which increase when organisms are exposed to genotoxic agents. Therefore, species with the highest values of spontaneous micronucleated erythrocytes (MNE) are the most suitable to be potentials biomonitor of micronucleogenic agents, using a drop of blood. Nine species of Felines that present spontaneous MNE in peripheral blood are shown. From these species, the cat has been previously proven, with positive results and also lion (Panthera leo), yaguaroundi (Felis yagoaroundi), lynx (Lynx ruffus), jaguar (Panthera onca), puma (Puma concolor), tiger (Panthera tigris), ocelote (Felis padalis) and leopard (Panthera pardus) display spontaneous MNE, and with this characteristic this Family can be propose like a potential group to be used in toxicogenetic studies.

  16. Set-based tests for genetic association in longitudinal studies.

    PubMed

    He, Zihuai; Zhang, Min; Lee, Seunggeun; Smith, Jennifer A; Guo, Xiuqing; Palmas, Walter; Kardia, Sharon L R; Diez Roux, Ana V; Mukherjee, Bhramar

    2015-09-01

    Genetic association studies with longitudinal markers of chronic diseases (e.g., blood pressure, body mass index) provide a valuable opportunity to explore how genetic variants affect traits over time by utilizing the full trajectory of longitudinal outcomes. Since these traits are likely influenced by the joint effect of multiple variants in a gene, a joint analysis of these variants considering linkage disequilibrium (LD) may help to explain additional phenotypic variation. In this article, we propose a longitudinal genetic random field model (LGRF), to test the association between a phenotype measured repeatedly during the course of an observational study and a set of genetic variants. Generalized score type tests are developed, which we show are robust to misspecification of within-subject correlation, a feature that is desirable for longitudinal analysis. In addition, a joint test incorporating gene-time interaction is further proposed. Computational advancement is made for scalable implementation of the proposed methods in large-scale genome-wide association studies (GWAS). The proposed methods are evaluated through extensive simulation studies and illustrated using data from the Multi-Ethnic Study of Atherosclerosis (MESA). Our simulation results indicate substantial gain in power using LGRF when compared with two commonly used existing alternatives: (i) single marker tests using longitudinal outcome and (ii) existing gene-based tests using the average value of repeated measurements as the outcome.

  17. Potential Genetic Risk Factors for Chronic TMD: Genetic Associations from the OPPERA Case Control Study

    PubMed Central

    Smith, Shad B.; Maixner, Dylan; Greenspan, Joel; Dubner, Ron; Fillingim, Roger; Ohrbach, Richard; Knott, Charles; Slade, Gary; Bair, Eric; Gibson, Dustin G.; Zaykin, Dmitri V.; Weir, Bruce; Maixner, William; Diatchenko, Luda

    2011-01-01

    Genetic factors play a role in the etiology of persistent pain conditions, putatively by modulating underlying processes such as nociceptive sensitivity, psychological well-being, inflammation, and autonomic response. However, to date, only a few genes have been associated with temporomandibular disorders (TMD). This study evaluated 358 genes involved in pain processes, comparing allelic frequencies between 166 cases with chronic TMD and 1442 controls enrolled in the OPPERA (Orofacial Pain: Prospective Evaluation and Risk Assessment) study cooperative agreement. To enhance statistical power, 182 TMD cases and 170 controls from a similar study were included in the analysis. Genotyping was performed using the Pain Research Panel, an Affymetrix gene chip representing 3295 single nucleotide polymorphisms, including ancestry-informative markers that were used to adjust for population stratification. Adjusted associations between genetic markers and TMD case status were evaluated using logistic regression. The OPPERA findings provided evidence supporting previously-reported associations between TMD and two genes: HTR2A and COMT. Other genes were revealed as potential new genetic risk factors for TMD, including NR3C1, CAMK4, CHRM2, IFRD1, and GRK5. While these findings need to be replicated in independent cohorts, the genes potentially represent important markers of risk for TMD and they identify potential targets for therapeutic intervention. PMID:22074755

  18. D Model of AL Zubarah Fortress in Qatar - Terrestrial Laser Scanning VS. Dense Image Matching

    NASA Astrophysics Data System (ADS)

    Kersten, T.; Mechelke, K.; Maziull, L.

    2015-02-01

    In September 2011 the fortress Al Zubarah, built in 1938 as a typical Arabic fortress and restored in 1987 as a museum, was recorded by the HafenCity University Hamburg using terrestrial laser scanning with the IMAGER 5006h and digital photogrammetry for the Qatar Museum Authority within the framework of the Qatar Islamic Archaeology and Heritage Project. One goal of the object recording was to provide detailed 2D/3D documentation of the fortress. This was used to complete specific detailed restoration work in the recent years. From the registered laser scanning point clouds several cuttings and 2D plans were generated as well as a 3D surface model by triangle meshing. Additionally, point clouds and surface models were automatically generated from digital imagery from a Nikon D70 using the open-source software Bundler/PMVS2, free software VisualSFM, Autodesk Web Service 123D Catch beta, and low-cost software Agisoft PhotoScan. These outputs were compared with the results from terrestrial laser scanning. The point clouds and surface models derived from imagery could not achieve the same quality of geometrical accuracy as laser scanning (i.e. 1-2 cm).

  19. LNG scene; Qatar's export plans intensify; sale of Columbia's U. S. terminal in doubt

    SciTech Connect

    Not Available

    1992-07-20

    This paper reports that Activity continues to percolate in Qatar's massive liquefied natural gas export program. In the latest development, France's Ste. Nationale Elf Aquitaine and Japan's Sumitomo Corp. agreed to promote development of Qatar's LNG export project based on supergiant North Offshore gas field and step up discussions with potential buyers in coming months. Target markets lie in Japan and the Far East. Among other LNG operations, Columbia Gas System Inc. last week the it was told by Shell LNG Co. it is unlikely that presale conditions will be met prior to Shell LNG's scheduled purchase July 29 of 40.8% of the stock in Columbia LNG. Columbia LNG owns and LNG receiving terminal at Cove Point, Md., with a design sendout capacity of 1 bcfd of regasified LNG. That makes it the biggest in type U.S. Columbia the it had not received work on what action Shell LNG will take on the purchase agreement. However, failure to meet the undisclosed conditions will allow Shell LNG to end the agreement.

  20. A Course-based Cross-Cultural Interaction among Pharmacy Students in Qatar and Canada

    PubMed Central

    Taylor, Jeff; Khalifa, Sherief I.; Jorgenson, Derek

    2015-01-01

    Objective. To develop, implement, and evaluate a course-based, cross-cultural student interaction using real-time videoconferencing between universities in Canada and Qatar. Design. A professional skills simulation practice session on smoking cessation was run for students in Qatar (n=22) and Canada (n=22). Students role played cases in small group situations and then interacted with colleagues from the other country regarding culturally challenging situations and communication strategies. Assessment. Students were assessed on analytical content and communication skills through faculty member and peer evaluation. Cultural competency outcomes were assessed using a postsession survey. Overall, 92.3% of respondents agreed that learning was enhanced through the cross-cultural exchange, and 94.9% agreed that insight was gained into the health-related issues and needs of people from another culture. Conclusion. A course-based, cross-cultural interaction was an effective method to incorporate cultural competency principles into student learning. Future initiatives should increase direct student interaction and focus on culturally sensitive topics. PMID:25861107

  1. The Qatar genome: a population-specific tool for precision medicine in the Middle East

    PubMed Central

    Fakhro, Khalid A; Staudt, Michelle R; Ramstetter, Monica Denise; Robay, Amal; Malek, Joel A; Badii, Ramin; Al-Marri, Ajayeb Al-Nabet; Khalil, Charbel Abi; Al-Shakaki, Alya; Chidiac, Omar; Stadler, Dora; Zirie, Mahmoud; Jayyousi, Amin; Salit, Jacqueline; Mezey, Jason G; Crystal, Ronald G; Rodriguez-Flores, Juan L

    2016-01-01

    Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), a population-specific genome for the indigenous Arab population of Qatar (QTRG) was constructed by incorporating allele frequency data from sequencing of 1,161 Qataris, representing 0.4% of the population. A total of 20.9 million single nucleotide polymorphisms (SNPs) and 3.1 million indels were observed in Qatar, including an average of 1.79% novel variants per individual genome. Replacement of the GRCh37 standard reference with QTRG in a best practices genome analysis workflow resulted in an average of 7* deeper coverage depth (an improvement of 23%) and 756,671 fewer variants on average, a reduction of 16% that is attributed to common Qatari alleles being present in QTRG. The benefit for using QTRG varies across ancestries, a factor that should be taken into consideration when selecting an appropriate reference for analysis. PMID:27408750

  2. Genetics, Genome-Wide Association Studies, and Menarche.

    PubMed

    Witchel, Selma Feldman

    2016-07-01

    Puberty is characterized by maturation of the hypothalamic-pituitary-gonadal axis, development of secondary sexual features, increased linear growth velocity, maturation of the epiphyses limiting additional growth, and achievement of menarche. The age at menarche appears to have a significant genetic component. With the advent of genome-wide association studies (GWASs), the genome has been interrogated to find associations between specific loci and age at menarche. It is apparent that multiple genetic loci, epigenetic mechanisms, and environmental factors modulate this biological event crucial for reproductive competence.

  3. Genetics, Genome-Wide Association Studies, and Menarche.

    PubMed

    Witchel, Selma Feldman

    2016-07-01

    Puberty is characterized by maturation of the hypothalamic-pituitary-gonadal axis, development of secondary sexual features, increased linear growth velocity, maturation of the epiphyses limiting additional growth, and achievement of menarche. The age at menarche appears to have a significant genetic component. With the advent of genome-wide association studies (GWASs), the genome has been interrogated to find associations between specific loci and age at menarche. It is apparent that multiple genetic loci, epigenetic mechanisms, and environmental factors modulate this biological event crucial for reproductive competence. PMID:27513021

  4. SU-E-P-57: Radiation Doses Assessment to Paediatric Patients for Some Digital Diagnostic Radiology Examination in Emergency Department in Qatar

    SciTech Connect

    Abdallah, I; Aly, A; Al Naemi, H

    2015-06-15

    Purpose: The aim of this study was to evaluate radiation doses to pediatric patients undergoing standard radiographic examinations using Direct Digital Radiography (DDR) in Paediatric emergency center of Hamad General Hospital (HGH) in state of Qatar and compared with regional and international Dose Reference Levels (DRLs). Methods: Entrance Skin Dose (ESD) was measured for 2739 patients for two common X-ray examinations namely: Chest AP/PA, Abdomen. Exposure factors such as kV, mAs and Focal to Skin Distance (FSD) were recorded for each patient. Tube Output was measured for a range of selected kV values. ESD for each individual patient was calculated using the tube output and the technical exposure factors for each examination. The ESD values were compared with the some international Dose Reference Levels (DRL) for all types of examinations. Results: The most performed procedure during the time of this study was chest PA/PA (85%). The mean ESD values obtained from AP chest, PA chest and AP abdomen ranged 91–120, 80–84 and 209 – 659 µGy per radiograph for different age’s groups respectively. Two protocols have been used for chest AP and PA using different radiological parameters, and the different of ESD values for chest PA and were 41% for 1 years old child, 57% for 5 years old for chest AP. Conclusion: The mean ESD were compared with those found in literature and were found to be comparable. The radiation dose can be reduced more for Chest AP and PA examination by optimization of each investigation and hence more studies are required for this task. The results presented will serve as a baseline data needed for deriving local reference doses for pediatric X-ray examinations in this local department and hence it can be applied in the whole Qatar.

  5. The study of relatedness and genetic diversity in cranes

    USGS Publications Warehouse

    Gee, G.F.; Dessauer, H.C.; Longmire, J.; Briles, W.E.; Simon, R.C.; Wood, Don A.

    1992-01-01

    The U.S. Fish and Wildlife Service (Service) is responsible for recovery of endangered species in the wild and, when necessary, maintenance in captivity. These programs provide an immediate measure of insurance against extinction. A prerequisite inherent in all of these programs is the preservation of enough genetic diversity to maintain a viable population and to maintain the capacity of the population to respond to change. Measures of genetic diversity examine polymorphic genes that are not influenced by selection pressures. Examples of these techniques and those used to determine relatedness are discussed. Studies of genetic diversity, electrophoresis of blood proteins, relatedness, blood typing, and restriction fragment length polymorphisms which are being used by the Patuxent Wildlife Research Center are discussed in detail.

  6. Studies on the Pathophysiology and Genetic Basis of Migraine

    PubMed Central

    Gasparini, Claudia F; Sutherland, Heidi G.; Griffiths, Lyn R

    2013-01-01

    Migraine is a neurological disorder that affects the central nervous system causing painful attacks of headache. A genetic vulnerability and exposure to environmental triggers can influence the migraine phenotype. Migraine interferes in many facets of people’s daily life including employment commitments and their ability to look after their families resulting in a reduced quality of life. Identification of the biological processes that underlie this relatively common affliction has been difficult because migraine does not have any clearly identifiable pathology or structural lesion detectable by current medical technology. Theories to explain the symptoms of migraine have focused on the physiological mechanisms involved in the various phases of headache and include the vascular and neurogenic theories. In relation to migraine pathophysiology the trigeminovascular system and cortical spreading depression have also been implicated with supporting evidence from imaging studies and animal models. The objective of current research is to better understand the pathways and mechanisms involved in causing pain and headache to be able to target interventions. The genetic component of migraine has been teased apart using linkage studies and both candidate gene and genome-wide association studies, in family and case-control cohorts. Genomic regions that increase individual risk to migraine have been identified in neurological, vascular and hormonal pathways. This review discusses knowledge of the pathophysiology and genetic basis of migraine with the latest scientific evidence from genetic studies. PMID:24403849

  7. GESDB: a platform of simulation resources for genetic epidemiology studies.

    PubMed

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.twDatabase URL: http://gesdb.nhri.org.tw. PMID:27242038

  8. GESDB: a platform of simulation resources for genetic epidemiology studies.

    PubMed

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.twDatabase URL: http://gesdb.nhri.org.tw.

  9. GESDB: a platform of simulation resources for genetic epidemiology studies

    PubMed Central

    Yao, Po-Ju; Chung, Ren-Hua

    2016-01-01

    Computer simulations are routinely conducted to evaluate new statistical methods, to compare the properties among different methods, and to mimic the observed data in genetic epidemiology studies. Conducting simulation studies can become a complicated task as several challenges can occur, such as the selection of an appropriate simulation tool and the specification of parameters in the simulation model. Although abundant simulated data have been generated for human genetic research, currently there is no public database designed specifically as a repository for these simulated data. With the lack of such a database, for similar studies, similar simulations may have been repeated, which resulted in redundant work. Thus, we created an online platform, the Genetic Epidemiology Simulation Database (GESDB), for simulation data sharing and discussion of simulation techniques for genetic epidemiology studies. GESDB consists of a database for storing simulation scripts, simulated data and documentation from published articles as well as a discussion forum, which provides a platform for discussion of the simulated data and exchanging simulation ideas. Moreover, summary statistics such as the simulation tools that are most commonly used and datasets that are most frequently downloaded are provided. The statistics will be informative for researchers to choose an appropriate simulation tool or select a common dataset for method comparisons. GESDB can be accessed at http://gesdb.nhri.org.tw. Database URL: http://gesdb.nhri.org.tw PMID:27242038

  10. 75 FR 66360 - Transportation and Energy Products and Services Trade Mission; Doha, Qatar, and Abu Dhabi and...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-28

    ... exceed five percent.\\1\\ U.S. business opportunities also exist in alternative energy products and... likely increase the need for alternative energy products and services. \\1\\ World Trade Organization... to opportunities in the energy sector in Qatar involve alternative energy products and...

  11. QATAR-2: A K DWARF ORBITED BY A TRANSITING HOT JUPITER AND A MORE MASSIVE COMPANION IN AN OUTER ORBIT

    SciTech Connect

    Bryan, Marta L.; Alsubai, Khalid A.; Latham, David W.; Quinn, Samuel N.; Carter, Joshua A.; Berlind, Perry; Brown, Warren R.; Calkins, Michael L.; Esquerdo, Gilbert A.; Furesz, Gabor; Stefanik, Robert P.; Torres, Guillermo; Parley, Neil R.; Collier Cameron, Andrew; Horne, Keith D.; Fulton, Benjamin J.; Street, Rachel A.; Buchhave, Lars A.; Jorgensen, Uffe Grae; West, Richard G.; and others

    2012-05-01

    We report the discovery and initial characterization of Qatar-2b, a hot Jupiter transiting a V = 13.3 mag K dwarf in a circular orbit with a short period, P{sub b} = 1.34 days. The mass and radius of Qatar-2b are M{sub P} = 2.49 M{sub J} and R{sub P} = 1.14 R{sub J}, respectively. Radial-velocity monitoring of Qatar-2 over a span of 153 days revealed the presence of a second companion in an outer orbit. The Systemic Console yielded plausible orbits for the outer companion, with periods on the order of a year and a companion mass of at least several M{sub J}. Thus, Qatar-2 joins the short but growing list of systems with a transiting hot Jupiter and an outer companion with a much longer period. This system architecture is in sharp contrast to that found by Kepler for multi-transiting systems, which are dominated by objects smaller than Neptune, usually with tightly spaced orbits that must be nearly coplanar.

  12. Effects of Inquiry-Based Science Instruction on Science Achievement and Interest in Science: Evidence from Qatar

    ERIC Educational Resources Information Center

    Areepattamannil, Shaljan

    2012-01-01

    The author sought to investigate the effects of inquiry-based science instruction on science achievement and interest in science of 5,120 adolescents from 85 schools in Qatar. Results of hierarchical linear modeling analyses revealed the substantial positive effects of science teaching and learning with a focus on model or applications and…

  13. The Admission and Academic Placement of Students from: Bahrain, Oman, Qatar, United Arab Emirates, Yemen Arab Republic.

    ERIC Educational Resources Information Center

    Johnson, J. K., Ed.

    Information is provided on the educational systems of Bahrain, Oman, Qatar, the United Arab Emirates, and the Yemen Arab Republic in order to assist U.S. colleges and universities as they work with international student agencies and representatives from these countries. For each country, placement recommendations are offered, along with notes to…

  14. English Teaching Profiles from the British Council: Burma, Cyprus, Czechoslovakia, Ethiopia, Ghana, India, Lesotho, New Zealand, Pakistan, Qatar, Malaysia.

    ERIC Educational Resources Information Center

    British Council, London (England). English Language and Literature Div.

    The role of English and the status of English language instruction is reported for Burma, Cyprus, Czechoslovakia, Ethiopia, Ghana, India, Lesotho, New Zealand, Pakistan, Qatar, and Malaysia. The profile for each country contains a summary of English instruction within and outside of the educational system, teacher supply and qualifications,…

  15. Genetic studies in chronic kidney disease: interpretation and clinical applicability.

    PubMed

    Witasp, Anna; Nordfors, Louise; Carrero, Juan Jesus; Luttropp, Karin; Lindholm, Bengt; Schalling, Martin; Stenvinkel, Peter

    2012-01-01

    The tools of modern molecular biology are evolving rapidly, resulting in vastly more efficient approaches to illuminating human genetic variations and their effects on common multifactorial disorders such as chronic kidney disease (CKD). Indeed, candidate gene association studies and genome-wide association studies (GWASs) have generated novel genetic variants in previously unrecognized biological pathways, highlighting disease mechanisms with a potential role in CKD etiology, morbidity and mortality. Nephrologists now need to find ways to make use of these advancements and meet the increasingly stringent requirements for valid study design, data handling and interpretation of genetic studies. Adding to our prior article in this journal, which introduced the basics of genotype-phenotype association studies in CKD, this second article focuses on how to ascertain robust and reproducible findings by applying adequate methodological and statistical approaches to genotype-phenotype studies in CKD populations. Moreover, this review will briefly discuss genotype-based risk prediction, pharmacotherapy, drug target identification and individualized treatment solutions, specifically highlighting potentially important findings in CKD patients. This increased knowledge will hopefully facilitate the exciting transition from conventional clinical medicine to gene-based medicine. However, before this can be accomplished, unsolved issues regarding the complex human genetic architecture as well technical and clinically oriented obstacles will have to be overcome. Additionally, new policies and standardized risk evaluations for genetic testing in the clinical setting will have to be established to guarantee that CKD patients are provided with high-quality genotype-guided counseling that will help to improve their poor outcomes.

  16. Toxoplasmosis in Sand cats (Felis margarita) and other animals in the Breeding Centre for Endangered Arabian Wildlife in the United Arab Emirates and Al Wabra Wildlife Preservation, the State of Qatar.

    PubMed

    Dubey, J P; Pas, An; Rajendran, C; Kwok, O C H; Ferreira, L R; Martins, J; Hebel, C; Hammer, S; Su, C

    2010-09-20

    The Sand cat (Felis margarita) is a small-sized felid found in sand and stone deserts ranging from the north of Africa to Asia, with the Arabian Peninsula as its centre of distribution. The Sand cat captive breeding program at the Breeding Centre for Endangered Arabian Wildlife (BCEAW), Sharjah, UAE, has experienced high newborn mortality rates, and congenital toxoplasmosis was recently recognized as one of the causes of this mortality. In the present study, one 18-month-old Sand cat (FM019) died of acute toxoplasmosis-associated hepatitis and pneumonitis acquired after birth; Toxoplasma gondii was demonstrated in histological sections which reacted with T. gondii polyclonal antibodies by immunohistochemistry (IHC). T. gondii DNA was found by PCR of extracted DNA from liver and lung tissues of this cat. Antibodies to T. gondii were found in serum examined in 1:1600 dilution in the modified agglutination test (MAT); its 2-year-old cage mate seroconverted (MAT titer 1:3200) at the same time. Another Sand cat (FM017) was euthanized because of ill health when 3 years old; its MAT titer was >1:3200, and T. gondii tissue cysts were found in brain, heart, ocular muscles and skeletal muscle, confirmed by IHC. Viable T. gondii was isolated by bioassays in mice inoculated with tissues of another chronically infected Sand cat (FM002); T. gondii was not found in histological sections of this cat. T. gondii antibodies were found in several species of animals tested, notably in 49 of 57 wild felids at BCEAW. A 7-year-old Sand cat (3657) from Al Wabra Wildlife Preservation (AWWP), Doha, State of Qatar died of acute visceral toxoplasmosis with demonstrable T. gondii tachyzoites by IHC, and T. gondii DNA by PCR, and a MAT titer of >3200. T. gondii antibodies were found in 21 of 27 of wild felids at AWWP. PCR-RFLP genotyping at 10 genetic loci revealed that these T. gondii isolates from Sand cat (FM002 and FM019) at BCEAW have an atypical genotype, which was previously reported in T

  17. Temporal and Spatial Assessment of Yearly Solar Maps Derived from Satellite Images over the UAE and Qatar

    NASA Astrophysics Data System (ADS)

    Eissa, Y.; Marpu, P. R.; Ghedira, H.; Chiesa, M.

    2012-12-01

    The unique climate of countries located within the Arabian Peninsula, characterized by high dust concentrations, high humidity and modest cloud coverage, requires regional models to retrieve the solar irradiance components from satellite images. An artificial neural network (ANN) model has shown promising results in estimating the direct normal, diffuse horizontal and global horizontal irradiances using thermal satellite channels over the United Arab Emirates (UAE). This model is trained with six thermal channels of the SEVIRI instrument, onboard Meteosat Second Generation, along with the solar zenith angle, day number, solar time and eccentricity correction. The outputs of this model are the solar irradiance components at 15-min temporal and 3-km spatial resolutions, which are then utilized to derive the daily, monthly and yearly irradiation maps over the UAE and Qatar. The purpose of this research is to examine the temporal and spatial variations for annual irradiation maps over the UAE and Qatar, derived using the ANN approach. For the period ranging from 2008 to 2010, the year of 2009 shows the lowest annual direct normal and global horizontal irradiation, and the highest diffuse horizontal irradiation. That is due to frequent dust events which occurred during 2009. The annual direct normal irradiation maps for 2008 to 2010 show the same trend, with the higher irradiation values in the southern area of UAE and the values decreasing as the coast approaches in the northern region. For any given year, Qatar generally shows lower direct normal irradiation values than the UAE. This might be explained by higher humidity in Qatar due to its coastal climate. As for the annual diffuse horizontal irradiation maps, the lower irradiation values are observed in the southern area of UAE and along some coastal regions, with the higher values being in the middle. Qatar shows higher values in the western region, due to the increased airborne dust coming from Saudi Arabia, as

  18. Brazilian studies on the genetics of Schistosoma mansoni

    PubMed Central

    Gentile, Rosana; Oliveira, Guilherme

    2009-01-01

    The parasite Schistosoma is known to exhibit variations among species, strains and genera, such as, the levels of infectivity, pathogenicity and immunogenicity. These factors may differ among parasite populations according to the local epidemiological conditions. Diversity observed in S. mansoni from different geographical regions or within individuals of the same region can be determined by differences in the genotype of each parasite strain. However, until recently, finding adequate genetic markers to investigate infectivity or other epidemiological characteristics of a transmission area proved difficult. Several studies have been conducted to evaluate the genetic variability of S. mansoni, using different techniques. Intraspecific variability was observed in morphological characters, isoenzyme studies, mtDNA, ribosomal gene probes, RAPD and microsatellites. The sequencing of the S. mansoni genome was the most important achievement concerning genetic approaches to the study of this parasite and may improve the development of drugs, vaccines and diagnostics of schistosomiasis. The knowledge of the genetic structure of schistosome populations in relation to epidemiological data and host variability is essential for the understanding of the epidemiology of the disease and the design of control strategies. PMID:18831955

  19. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  20. Study design in genetic epidemiology: theoretical and practical considerations.

    PubMed

    Whittemore, A S; Nelson, L M

    1999-01-01

    Recent advances in molecular genetics have created new opportunities and challenges for genetic epidemiologists. Here we review some of the issues that arise when designing a study involving the genetic epidemiology of chronic diseases of late onset, such as cancer. We discuss two considerations that influence the choice of design. The first consideration is the study's goals. We describe the goals of identifying new susceptibility genes for a disease, of estimating important characteristics of known genes, and of learning how to prevent the disease in the genetically susceptible. We indicate how these goals affect the choice of design and present some guidelines for choosing designs that effectively address them. The second consideration is the set of practical constraints to successfully conducting the research. These contraints include problems of potential selection bias, reduced response rates, problems particular to family registries, problems particular to the cultures of various ethnic groups, and ethical issues. We indicate how these constraints affect the choice of design and discuss ways to deal with them. PMID:10854488

  1. Human genetic mapping studies using single sperm typing

    SciTech Connect

    Hubert, R.S.

    1993-01-01

    Sperm typing is a powerful technique that uses the polymerase chain reaction (PCR) to analyze DNA sequences within single sperm cells in order to construct genetic maps. This methodology was used to estimate the recombination fraction between D3S2 and D3S2 which was found to be 0.28 (95% CI = 0.20-0.36). Pedigree analysis was unable to determine genetic distance between these two markers due to their low informativeness. We also showed that dinucleotide and tetranucleotide repeat polymorphisms can be analyzed in single cells without using radioactivity or denaturing gels. This provides a rich new source of DANA polymorphisms for genetic mapping by sperm typing. In addition, an approach that uses the sperm typing methodology is described that can define the physical boundaries of meiotic recombination hotspots. The hotspot at 4p16.3 near the Huntington disease gene was localized to an interval between D4S10 and D4S126. These studies demonstrated the usefulness of sperm typing as a tool for the study of human genetic.

  2. Genetic and ecological studies of animals in Chernobyl and Fukushima.

    PubMed

    Mousseau, Timothy A; Møller, Anders P

    2014-01-01

    Recent advances in genetic and ecological studies of wild animal populations in Chernobyl and Fukushima have demonstrated significant genetic, physiological, developmental, and fitness effects stemming from exposure to radioactive contaminants. The few genetic studies that have been conducted in Chernobyl generally show elevated rates of genetic damage and mutation rates. All major taxonomic groups investigated (i.e., birds, bees, butterflies, grasshoppers, dragonflies, spiders, mammals) displayed reduced population sizes in highly radioactive parts of the Chernobyl Exclusion Zone. In Fukushima, population censuses of birds, butterflies, and cicadas suggested that abundances were negatively impacted by exposure to radioactive contaminants, while other groups (e.g., dragonflies, grasshoppers, bees, spiders) showed no significant declines, at least during the first summer following the disaster. Insufficient information exists for groups other than insects and birds to assess effects on life history at this time. The differences observed between Fukushima and Chernobyl may reflect the different times of exposure and the significance of multigenerational mutation accumulation in Chernobyl compared to Fukushima. There was considerable variation among taxa in their apparent sensitivity to radiation and this reflects in part life history, physiology, behavior, and evolutionary history. Interestingly, for birds, population declines in Chernobyl can be predicted by historical mitochondrial DNA base-pair substitution rates that may reflect intrinsic DNA repair ability.

  3. Genetic studies in chronic kidney disease: basic concepts.

    PubMed

    Nordfors, Louise; Luttropp, Karin; Carrero, Juan Jesus; Witasp, Anna; Stenvinkel, Peter; Lindholm, Bengt; Schalling, Martin

    2012-01-01

    In spite of extensive research resulting in major advances in renal care including technological improvements of dialysis, the poor outcome of chronic kidney disease patients has only marginally been improved since the 1980s. It has thus become clear that new strategies are needed to move forward. There are now great expectations that increased knowledge about genetic characteristics combined with other biological markers will identify pathophysiological pathways involved in the initiation and progression of renal damage and that this in turn will help define tools for early disease intervention and personalized treatment strategies. Already, new methodologies have made it possible to study the heritable component of many kidney diseases, and it is probable that DNA-based diagnostics will be performed on a regular basis for many conditions in the near future. This article discusses basic genetic concepts and highlights some of the novel approaches available for genome-wide genetic analyses. We hope that it may serve as an introduction to the research field of what we call "nephrogenetics." A second article in this series will focus on the interpretation and evaluation of genetic association studies and how to make use of this information to improve patient care and outcomes.

  4. Relationships between anthropometric measures and athletic performance, with special reference to repeated-sprint ability, in the Qatar national soccer team.

    PubMed

    Brocherie, Franck; Girard, Olivier; Forchino, Fabricio; Al Haddad, Hani; Dos Santos, Gilvan A; Millet, Grégoire P

    2014-01-01

    The aim of this study was to determine potential relationships between anthropometric parameters and athletic performance with special consideration to repeated-sprint ability (RSA). Sixteen players of the senior male Qatar national soccer team performed a series of anthropometric and physical tests including countermovement jumps without (CMJ) and with free arms (CMJwA), straight-line 20 m sprint, RSA (6 × 35 m with 10 s recovery) and incremental field test. Significant (P < 0.05) relationships occurred between muscle-to-bone ratio and both CMJs height (r ranging from 0.56 to 0.69) as well as with all RSA-related variables (r < -0.53 for sprinting times and r = 0.54 for maximal sprinting speed) with the exception of the sprint decrement score (Sdec). The sum of six skinfolds and adipose mass index were largely correlated with Sdec (r = 0.68, P < 0.01 and r = 0.55, P < 0.05, respectively) but not with total time (TT, r = 0.44 and 0.33, P > 0.05, respectively) or any standard athletic tests. Multiple regression analyses indicated that muscular cross-sectional area for mid-thigh, adipose index, straight-line 20 m time, maximal sprinting speed and CMJwA are the strongest predictors of Sdec (r(2) = 0.89) and TT (r(2) = 0.95) during our RSA test. In the Qatar national soccer team, players' power-related qualities and RSA are associated with a high muscular profile and a low adiposity. This supports the relevance of explosive power for the soccer players and the larger importance of neuromuscular qualities determining the RSA. PMID:24742185

  5. Genetic studies of the Roma (Gypsies): a review

    PubMed Central

    Kalaydjieva, Luba; Gresham, David; Calafell, Francesc

    2001-01-01

    Background Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies) who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Conclusion Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma. PMID:11299048

  6. A Global Population Genetic Study of Pantala flavescens.

    PubMed

    Troast, Daniel; Suhling, Frank; Jinguji, Hiroshi; Sahlén, Göran; Ware, Jessica

    2016-01-01

    Among terrestrial arthropods, the dragonfly species Pantala flavescens is remarkable due to their nearly global distribution and extensive migratory ranges; the largest of any known insect. Capable of migrating across oceans, the potential for high rates of gene flow among geographically distant populations is significant. It has been hypothesized that P. flavescens may be a global panmictic population but no sufficient genetic evidence has been collected thus far. Through a population genetic analysis of P. flavescens samples from North America, South America, and Asia, the current study aimed to examine the extent at which gene flow is occurring on a global scale and discusses the implications of the genetic patterns we uncovered on population structure and genetic diversity of the species. This was accomplished using PCR-amplified cytochrome oxidase one (CO1) mitochondrial DNA data to reconstruct phylogenetic trees, a haplotype network, and perform molecular variance analyses. Our results suggested high rates of gene flow are occurring among all included geographic regions; providing the first significant evidence that Pantala flavescens should be considered a global panmictic population. PMID:26934181

  7. A Global Population Genetic Study of Pantala flavescens

    PubMed Central

    Troast, Daniel; Suhling, Frank; Jinguji, Hiroshi; Sahlén, Göran; Ware, Jessica

    2016-01-01

    Among terrestrial arthropods, the dragonfly species Pantala flavescens is remarkable due to their nearly global distribution and extensive migratory ranges; the largest of any known insect. Capable of migrating across oceans, the potential for high rates of gene flow among geographically distant populations is significant. It has been hypothesized that P. flavescens may be a global panmictic population but no sufficient genetic evidence has been collected thus far. Through a population genetic analysis of P. flavescens samples from North America, South America, and Asia, the current study aimed to examine the extent at which gene flow is occurring on a global scale and discusses the implications of the genetic patterns we uncovered on population structure and genetic diversity of the species. This was accomplished using PCR-amplified cytochrome oxidase one (CO1) mitochondrial DNA data to reconstruct phylogenetic trees, a haplotype network, and perform molecular variance analyses. Our results suggested high rates of gene flow are occurring among all included geographic regions; providing the first significant evidence that Pantala flavescens should be considered a global panmictic population. PMID:26934181

  8. Prevalence and determinants of metabolic syndrome in Qatar: results from a National Health Survey

    PubMed Central

    Al-Thani, Mohamed Hamad; Al-Thani, Al Anoud Mohammed; Cheema, Sohaila; Sheikh, Javaid; Mamtani, Ravinder; Lowenfels, Albert B; Al-Chetachi, Walaa Fattah; Almalki, Badria Ali; Hassan Khalifa, Shamseldin Ali; Haj Bakri, Ahmad Omar; Maisonneuve, Patrick

    2016-01-01

    Objectives To determine optimum measurements for abdominal obesity and to assess the prevalence and determinants of metabolic syndrome in Qatar. Design National health survey. Setting Qatar National STEPwise Survey conducted by the Supreme Council of Health during 2012. Participants 2496 Qatari citizens aged 18–64 representative of the general population. Primary and secondary outcome measures Measure of obesity (body mass index, waist circumference or waist-to-height ratio) that best identified the presence of at least 2 other factors of metabolic syndrome; cut-off values of waist circumference; frequency of metabolic syndrome. Results Waist circumference ≥102 for men and ≥94 cm for women was the best predictor of the presence of other determinants of metabolic syndrome (raised blood pressure, fasting blood glucose, triglycerides and reduced high-density lipoprotein cholesterol). Using these values, we identified 28% of Qataris with metabolic syndrome, which is considerably lower than the estimate of 37% calculated using the International Diabetes Federation (IDF) criteria. Restricting the analysis to participants without known elevated blood pressure, elevated blood sugar or diabetes 16.5% would be classified as having metabolic syndrome. In a multivariable logistic regression analysis, the prevalence of metabolic syndrome increased steadily with age (OR=3.40 (95% CI 2.02 to 5.74), OR=5.66 (3.65 to 8.78), OR=10.2 (5.98 to 17.6) and OR=18.2 (7.01 to 47.5) for those in the age group ‘30–39’, ‘40–49’, ‘50–59’, ‘60–64’ vs ‘18–29’; p<0.0001), decreased with increasing educational attainment (OR=0.61 (0.39 to 0.96) for those who attained ‘secondary school or more’ compared with ‘less than primary school’; p=0.03) and exercise (OR=0.60 (0.42 to 0.86) for those exercising ≥3000 vs <600 MET-min/week; p=0.006) but was not associated with smoking or diet. Conclusions Waist circumference was the best measure of obesity to

  9. Perception and intentions to quit among waterpipe smokers in Qatar: a cross-sectional survey.

    PubMed

    Jaam, M; Al-Marridi, W; Fares, H; Izham, M; Kheir, N; Awaisu, A

    2016-03-21

    Objectif : Evaluer les perceptions et attitudes des fumeurs de pipe à eau (shisha) au Qatar en ce qui concerne les risques sanitaires associés à l'addiction et déterminer leurs intentions d'arrêter.Méthodes : Une enquête transversale a été réalisée auprès de 181 fumeurs de pipe à eau. Les participants ont été approchés dans des lieux publics ainsi que dans des cafés à shisha au Qatar. Le questionnaire a inclus des items liés aux perceptions, aux attitudes et aux intentions de s'arrêter. Des études statistiques descriptives et déductives ont été réalisées pour analyser les données, avec P ⩽ 0,05 considéré comme statistiquement significatif.Résultats : Près de 44% des répondants pensaient que fumer une pipe à eau était plus sûr que fumer des cigarettes, et plus de 70% ne verraient pas d'inconvénient à ce que leurs enfants se mettent à fumer la pipe à eau. De plus, plus de la moitié des fumeurs actuels voulaient arrêter de fumer la shisha à un moment ou à un autre et 17% indiquaient qu'une préoccupation relative à leur santé était le facteur de motivation principal dans leur intention d'arrêter.Conclusion : Une large proportion de fumeurs de shisha la considérait comme une alternative plus sûre que les cigarettes, mais ils admettaient volontiers qu'ils avaient l'intention d'arrêter. Ces résultats soulignent la nécessité d'élaborer des interventions à visée éducative et des campagnes de sensibilisation ainsi que d'imposer des lois strictes relatives à l'utilisation de la pipe à eau dans des lieux publics au Qatar.

  10. Is Adherence to Imatinib Mesylate Treatment Among Patients with Chronic Myeloid Leukemia Associated with Better Clinical Outcomes in Qatar?

    PubMed Central

    Al-Dewik, Nader I.; Morsi, Hisham M.; Samara, Muthanna M.; Ghasoub, Rola S.; Gnanam, Cinquea C.; Bhaskaran, Subi K.; Nashwan, Abdulqadir J.; Al-Jurf, Rana M.; Ismail, Mohamed A.; AlSharshani, Mohammed M.; AlSayab, Ali A.; Ben-Omran, Tawfeg I.; Khatib, Rani B.; Yassin, Mohamed A.

    2016-01-01

    believed that IM would cure the disease. The MPR results reveal that 16% of patients had poor access to treatment through the hospital pharmacy. DISCUSSION AND CONCLUSION This is the first prospective study to evaluate CML patients’ adherence and response to IM in Qatar. The high rate of treatment failure observed in Qatar is explained by poor adherence. An economic factor (unaffordable drug prices) is one of the main causes of nonadherence and efforts should be made locally to improve access to medication for cancer diseases. Other risk factors associated with poor adherence could be improved by close monitoring and dose adjustment. Monitoring risk factors for poor adherence and patient education that include direct communication between the health-care teams, doctors, nurses, pharmacists, and patients are essential components for maximizing the benefits of TKI therapy and could rectify this problem. The preliminary results show that patients’ response to treatment may be directly linked to patients’ adherence to treatment. However, further in-depth and specific analysis may be necessary in a larger cohort. PMID:27721664

  11. Synthesis and assessment of date palm genetic diversity studies

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A thorough assessment of genetic diversity and population differentiation of Phoenix dactylifera are critical for its dynamic conservation and sustainable utilization of its genetic diversity. Estimates of genetic diversity based on phenotypic, biochemical and molecular markers; and fruit quality tr...

  12. A Snapshot of Functional Genetic Studies in Medicago truncatula.

    PubMed

    Kang, Yun; Li, Minguye; Sinharoy, Senjuti; Verdier, Jerome

    2016-01-01

    In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant. PMID:27555857

  13. The genetics of alcoholism: identifying specific genes through family studies.

    PubMed

    Edenberg, Howard J; Foroud, Tatiana

    2006-09-01

    Alcoholism is a complex disorder with both genetic and environmental risk factors. Studies in humans have begun to elucidate the genetic underpinnings of the risk for alcoholism. Here we briefly review strategies for identifying individual genes in which variations affect the risk for alcoholism and related phenotypes, in the context of one large study that has successfully identified such genes. The Collaborative Study on the Genetics of Alcoholism (COGA) is a family-based study that has collected detailed phenotypic data on individuals in families with multiple alcoholic members. A genome-wide linkage approach led to the identification of chromosomal regions containing genes that influenced alcoholism risk and related phenotypes. Subsequently, single nucleotide polymorphisms (SNPs) were genotyped in positional candidate genes located within the linked chromosomal regions, and analyzed for association with these phenotypes. Using this sequential approach, COGA has detected association with GABRA2, CHRM2 and ADH4; these associations have all been replicated by other researchers. COGA has detected association to additional genes including GABRG3, TAS2R16, SNCA, OPRK1 and PDYN, results that are awaiting confirmation. These successes demonstrate that genes contributing to the risk for alcoholism can be reliably identified using human subjects.

  14. A Snapshot of Functional Genetic Studies in Medicago truncatula

    PubMed Central

    Kang, Yun; Li, Minguye; Sinharoy, Senjuti; Verdier, Jerome

    2016-01-01

    In the current context of food security, increase of plant protein production in a sustainable manner represents one of the major challenges of agronomic research, which could be partially resolved by increased cultivation of legume crops. Medicago truncatula is now a well-established model for legume genomic and genetic studies. With the establishment of genomics tools and mutant populations in M. truncatula, it has become an important resource to answer some of the basic biological questions related to plant development and stress tolerance. This review has an objective to overview a decade of genetic studies in this model plant from generation of mutant populations to nowadays. To date, the three biological fields, which have been extensively studied in M. truncatula, are the symbiotic nitrogen fixation, the seed development, and the abiotic stress tolerance, due to their significant agronomic impacts. In this review, we summarize functional genetic studies related to these three major biological fields. We integrated analyses of a nearly exhaustive list of genes into their biological contexts in order to provide an overview of the forefront research advances in this important legume model plant. PMID:27555857

  15. Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study.

    PubMed

    Greenwood, Tiffany A; Lazzeroni, Laura C; Calkins, Monica E; Freedman, Robert; Green, Michael F; Gur, Raquel E; Gur, Ruben C; Light, Gregory A; Nuechterlein, Keith H; Olincy, Ann; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Silverman, Jeremy M; Stone, William S; Sugar, Catherine A; Swerdlow, Neal R; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Braff, David L

    2016-01-01

    The Consortium on the Genetics of Schizophrenia Family Study (COGS-1) has previously reported our efforts to characterize the genetic architecture of 12 primary endophenotypes for schizophrenia. We now report the characterization of 13 additional measures derived from the same endophenotype test paradigms in the COGS-1 families. Nine of the measures were found to discriminate between schizophrenia patients and controls, were significantly heritable (31 to 62%), and were sufficiently independent of previously assessed endophenotypes, demonstrating utility as additional endophenotypes. Genotyping via a custom array of 1536 SNPs from 94 candidate genes identified associations for CTNNA2, ERBB4, GRID1, GRID2, GRIK3, GRIK4, GRIN2B, NOS1AP, NRG1, and RELN across multiple endophenotypes. An experiment-wide p value of 0.003 suggested that the associations across all SNPs and endophenotypes collectively exceeded chance. Linkage analyses performed using a genome-wide SNP array further identified significant or suggestive linkage for six of the candidate endophenotypes, with several genes of interest located beneath the linkage peaks (e.g., CSMD1, DISC1, DLGAP2, GRIK2, GRIN3A, and SLC6A3). While the partial convergence of the association and linkage likely reflects differences in density of gene coverage provided by the distinct genotyping platforms, it is also likely an indication of the differential contribution of rare and common variants for some genes and methodological differences in detection ability. Still, many of the genes implicated by COGS through endophenotypes have been identified by independent studies of common, rare, and de novo variation in schizophrenia, all converging on a functional genetic network related to glutamatergic neurotransmission that warrants further investigation. PMID:26597662

  16. Genetic assessment of additional endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study.

    PubMed

    Greenwood, Tiffany A; Lazzeroni, Laura C; Calkins, Monica E; Freedman, Robert; Green, Michael F; Gur, Raquel E; Gur, Ruben C; Light, Gregory A; Nuechterlein, Keith H; Olincy, Ann; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Silverman, Jeremy M; Stone, William S; Sugar, Catherine A; Swerdlow, Neal R; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Braff, David L

    2016-01-01

    The Consortium on the Genetics of Schizophrenia Family Study (COGS-1) has previously reported our efforts to characterize the genetic architecture of 12 primary endophenotypes for schizophrenia. We now report the characterization of 13 additional measures derived from the same endophenotype test paradigms in the COGS-1 families. Nine of the measures were found to discriminate between schizophrenia patients and controls, were significantly heritable (31 to 62%), and were sufficiently independent of previously assessed endophenotypes, demonstrating utility as additional endophenotypes. Genotyping via a custom array of 1536 SNPs from 94 candidate genes identified associations for CTNNA2, ERBB4, GRID1, GRID2, GRIK3, GRIK4, GRIN2B, NOS1AP, NRG1, and RELN across multiple endophenotypes. An experiment-wide p value of 0.003 suggested that the associations across all SNPs and endophenotypes collectively exceeded chance. Linkage analyses performed using a genome-wide SNP array further identified significant or suggestive linkage for six of the candidate endophenotypes, with several genes of interest located beneath the linkage peaks (e.g., CSMD1, DISC1, DLGAP2, GRIK2, GRIN3A, and SLC6A3). While the partial convergence of the association and linkage likely reflects differences in density of gene coverage provided by the distinct genotyping platforms, it is also likely an indication of the differential contribution of rare and common variants for some genes and methodological differences in detection ability. Still, many of the genes implicated by COGS through endophenotypes have been identified by independent studies of common, rare, and de novo variation in schizophrenia, all converging on a functional genetic network related to glutamatergic neurotransmission that warrants further investigation.

  17. Molecular genetic system for regenerative studies using newts.

    PubMed

    Hayashi, Toshinori; Yokotani, Naoki; Tane, Shoji; Matsumoto, Akira; Myouga, Ayumi; Okamoto, Mitsumasa; Takeuchi, Takashi

    2013-02-01

    Urodele newts have the remarkable capability of organ regeneration, and have been used as a unique experimental model for more than a century. However, the mechanisms underlying regulation of the regeneration are not well understood, and gene functions in particular remain largely unknown. To elucidate gene function in regeneration, molecular genetic analyses are very powerful. In particular, it is important to establish transgenic or knockout (mutant) lines, and systematically cross these lines to study the functions of the genes. In fact, such systems have been developed for other vertebrate models. However, there is currently no experimental model system using molecular genetics for newt regenerative research due to difficulties with respect to breeding newts in the laboratory. Here, we show that the Iberian ribbed newt (Pleurodeles waltl) has outstanding properties as a laboratory newt. We developed conditions under which we can obtain a sufficient number and quality of eggs throughout the year, and shortened the period required for sexual maturation from 18 months to 6 months. In addition, P. waltl newts are known for their ability, like other newts, to regenerate various tissues. We revealed that their ability to regenerate various organs is equivalent to that of Japanese common newts. We also developed a method for efficient transgenesis. These studies demonstrate that P. waltl newts are a suitable model animal for analysis of regeneration using molecular genetics. Establishment of this experimental model will enable us to perform comparable studies using these newts and other vertebrate models.

  18. The Brazilian Xavante Indians revisited: new protein genetic studies.

    PubMed

    Salzano, F M; Franco, M H; Weimer, T A; Callegari-Jacques, S M; Mestriner, M A; Hutz, M H; Flowers, N M; Santos, R V; Coimbra, C E

    1997-09-01

    A total of 94 individuals from the Xavante village of Rio das Mortes were variously studied in relation to 28 protein genetic systems. No variation was observed for 15 of them, in accordance with previous studies. Of the remaining 13, four (Rh, Duffy, acid phosphatase, and GC) showed significant departures from the averages obtained in 32 other South American Indian populations. If studies performed in the 1960s are considered, there is indication that no significant changes in this village's gene pool has occurred in the last 30 years. Comparison with two other Xavante populations included nine systems with variation, and for three of them (MNSs, Rh, and Duffy) significant differences were found. Genetically the Rio das Mortes are closer to the São Marcos than to the Simões Lopes Xavantes. A dendrogram considering 25 genetic systems and 33 South American Indian populations was constructed. There the Xavante were grouped together, in two neighboring clusters, with three other tribes who speak Ge languages, But these clusters also present populations who speak other languages, and the reproducibility of the tree is low. South American Indians, at least with this set of markers, do not seem to be clearly classified into defined subgroups.

  19. Homogeneous case subgroups increase power in genetic association studies.

    PubMed

    Traylor, Matthew; Markus, Hugh; Lewis, Cathryn M

    2015-06-01

    Genome-wide association studies of clinically defined cases against controls have transformed our understanding of the genetic causes of many diseases. However, there are limitations to the simple clinical definitions used in these studies, and GWAS analyses are beginning to explore more refined phenotypes in subgroups of the existing data sets. These analyses are often performed ad hoc without considering the power requirements to justify such analyses. Here we derive expressions for the relative power of such subgroup analyses and determine the genotypic relative risks (GRRs) required to achieve equivalent power to a full analysis for relevant scenarios. We show that only modest increases in GRRs may be required to offset the reduction in power from analysing fewer cases, implying that analyses of more genetically homogenous case subgroups may have the potential to identify further associations. We find that, for lower genotypic relative risks in the full sample, subgroup analyses of more homogeneous cases have relatively more power than for higher index genotypic relative risks and that this effect is stronger for rare as opposed to common variants. As GWA studies are likely to have now identified the majority of SNPs with stronger effects, these results strongly advocate a renewed effort to identify phenotypically homogeneous disease groups, in which power to detect genetic variants with small effects will be greater. These results suggest that analysis of case subsets could be a powerful strategy to uncover some of the hidden heritability for common complex disorders, particularly in identifying rarer variants of modest effect.

  20. Hydrodynamic trapping in the Cretaceous Nahr Umr lower sand of the North Area, Offshore Qatar

    SciTech Connect

    Wells, P.R.A.

    1988-03-01

    A hydrodynamic model is described to account for oil and gas occurrences in the Cretaceous of offshore Qatar, in the Arabian Gulf. Variable and inconsistent fluid levels and variable formation water potentials and salinities cannot be explained by combinations of stratigraphic and structural trapping. Indeed, there is no structural closure to the southwest of the oil and gas accumulations. The water-potential and salinity data and oil distribution are consistent with this model and indicate that a vigorous hydrodynamic system pervades the Cretaceous of the Arabian Gulf region. Extensive upward cross-formational discharge is taking place in the North Area. This cross-formation water flow could be partly responsible for localized leaching and reservoir enhancement in the chalky limestones.

  1. Primary coronary angioplasty for ST-Elevation Myocardial Infarction in Qatar: First nationwide program

    PubMed Central

    Gehani, Abdurrazzak; Al Suwaidi, Jassim; Arafa, Salah; Tamimi, Omer; Alqahtani, Awad; Al-Nabti, Abdulrahman; Arabi, Abdulrahman; Aboughazala, Tarek; Bonow, Robert O; Yacoub, Magdi

    2012-01-01

    Abstract: In this article, we outline the plans, protocols and strategies to set up the first nationwide primary Percutaneous Coronary Intervention (PCI) program for ST-elevation myocardial Infarction (STEMI) in Qatar, as well as the difficulties and the multi-disciplinary solutions that we adopted in preparation. We will also report some of the landmark literature that guided our plans. The guidelines underscore the need for adequate number of procedures to justify establishing a primary-PCI service and maintain competency. The number of both diagnostic and interventional procedures in our centre has increased substantially over the years. The number of diagnostic procedures has increased from 1470 in 2007, to 2200 in 2009 and is projected to exceed 3000 by the end of 2012. The total number of PCIs has also increased from 443 in 2007, to 646 in 2009 and 1176 in 2011 and is expected to exceed 1400 by the end of 2012. These figures qualify our centre to be classified as ‘high volume’, both for the institution and for the individual interventional operators. The initial number of expected primary PCI procedures will be in excess of 600 procedures per year. Guidelines also emphasize the door to balloon time (DBT), which should not exceed 90 minutes. This interval mainly represents in-hospital delay and reflects the efficiency of the hospital system in the rapid recognition and transfer of the STEMI patient to the catheterization laboratory for primary-PCI. Although DBT is clearly important and is in the forefront of planning for the wide primary PCI program, it is not the only important time interval. Myocardial necrosis begins before the patient arrives to the hospital and even before first medical contact, so time is of the essence. Therefore, our primary PCI program includes a nationwide awareness program for both the population and health care professionals to reduce the pre-hospital delay. We have also taken steps to improve the pre-hospital diagnosis of

  2. [Genetic predisposition and Pediatric Acute Respiratory Distress Syndrome: New tools for genetic study].

    PubMed

    Erranz, M Benjamín; Wilhelm, B Jan; Riquelme, V Raquel; Cruces, R Pablo

    2015-01-01

    Acute respiratory distress syndrome (ARDS) is the most severe form of respiratory failure. Theoretically, any acute lung condition can lead to ARDS, but only a small percentage of individuals actually develop the disease. On this basis, genetic factors have been implicated in the risk of developing ARDS. Based on the pathophysiology of this disease, many candidate genes have been evaluated as potential modifiers in patient, as well as in animal models, of ARDS. Recent experimental data and clinical studies suggest that variations of genes involved in key processes of tissue, cellular and molecular lung damage may influence susceptibility and prognosis of ARDS. However, the pathogenesis of pediatric ARDS is complex, and therefore, it can be expected that many genes might contribute. Genetic variations such as single nucleotide polymorphisms and copy-number variations are likely associated with susceptibility to ARDS in children with primary lung injury. Genome-wide association (GWA) studies can objectively examine these variations, and help identify important new genes and pathogenetic pathways for future analysis. This approach might also have diagnostic and therapeutic implications, such as predicting patient risk or developing a personalized therapeutic approach to this serious syndrome.

  3. Detection of the secondary eclipse of Qatar-1b in the Ks band

    NASA Astrophysics Data System (ADS)

    Cruz, Patricia; Barrado, David; Lillo-Box, Jorge; Diaz, Marcos; Birkby, Jayne; López-Morales, Mercedes; Fortney, Jonathan J.

    2016-10-01

    Aims: Qatar-1b is a close-orbiting hot Jupiter (Rp ≃ 1.18 RJ, Mp ≃ 1.33 MJ) around a metal-rich K-dwarf, with orbital separation and period of 0.023 AU and 1.42 days. We have observed the secondary eclipse of this exoplanet in the Ks band with the objective of deriving a brightness temperature for the planet and providing further constraints to the orbital configuration of the system. Methods: We obtained near-infrared photometric data from the ground by using the OMEGA2000 instrument at the 3.5 m telescope at Calar Alto (Spain) in staring mode, with the telescope defocused. We have used principal component analysis (PCA) to identify correlated systematic trends in the data. A Markov chain Monte Carlo analysis was performed to model the correlated systematics and fit for the secondary eclipse of Qatar-1b using a previously developed occultation model. We adopted the prayer bead method to assess the effect of red noise on the derived parameters. Results: We measured a secondary eclipse depth of 0.196%+ 0.071%-0.051%, which indicates a brightness temperature in the Ks band for the planet of 1885+ 212-168 K. We also measured a small deviation in the central phase of the secondary eclipse of -0.0079+ 0.0162-0.0043, which leads to a value for ecosω of -0.0123+ 0.0252-0.0067. However, this last result needs to be confirmed with more data. Based on observations collected at the Calar Alto Observatory, Almería, Spain.Lightcurve data are only available at the CDS via anonymous ftp to http://cdsarc.u-strasbg.fr (http://130.79.128.5) or via http://cdsarc.u-strasbg.fr/viz-bin/qcat?J/A+A/595/A61

  4. Study of genetic direct search algorithms for function optimization

    NASA Technical Reports Server (NTRS)

    Zeigler, B. P.

    1974-01-01

    The results are presented of a study to determine the performance of genetic direct search algorithms in solving function optimization problems arising in the optimal and adaptive control areas. The findings indicate that: (1) genetic algorithms can outperform standard algorithms in multimodal and/or noisy optimization situations, but suffer from lack of gradient exploitation facilities when gradient information can be utilized to guide the search. (2) For large populations, or low dimensional function spaces, mutation is a sufficient operator. However for small populations or high dimensional functions, crossover applied in about equal frequency with mutation is an optimum combination. (3) Complexity, in terms of storage space and running time, is significantly increased when population size is increased or the inversion operator, or the second level adaptation routine is added to the basic structure.

  5. A powerful and robust test in genetic association studies.

    PubMed

    Cheng, Kuang-Fu; Lee, Jen-Yu

    2014-01-01

    There are several well-known single SNP tests presented in the literature for detecting gene-disease association signals. Having in place an efficient and robust testing process across all genetic models would allow a more comprehensive approach to analysis. Although some studies have shown that it is possible to construct such a test when the variants are common and the genetic model satisfies certain conditions, the model conditions are too restrictive and in general difficult to verify. In this paper, we propose a powerful and robust test without assuming any model restrictions. Our test is based on the selected 2 × 2 tables derived from the usual 2 × 3 table. By signals from these tables, we show through simulations across a wide range of allele frequencies and genetic models that this approach may produce a test which is almost uniformly most powerful in the analysis of low- and high-frequency variants. Two cancer studies are used to demonstrate applications of the proposed test. PMID:24969671

  6. Functional Analysis of the Human Genome:. Study of Genetic Disease

    NASA Astrophysics Data System (ADS)

    Tsui, Lap-Chee

    2003-04-01

    I will divide my remarks into 3 parts. First, I will give a brief summary of the Human Genome Project. Second, I will describe our work on human chromosome 7 to illustrate how we could contribute to the Project and disease research. Third, I would like to bring across the argument that study of genetic disease is an integral component of the Human Genome Project. In particular, I will use cystic fibrosis as an example to elaborate why I consider disease study is a part of functional genomics.

  7. Bayesian semiparametric meta-analysis for genetic association studies.

    PubMed

    De Iorio, Maria; Newcombe, Paul J; Tachmazidou, Ioanna; Verzilli, Claudio J; Whittaker, John C

    2011-07-01

    We present a Bayesian semiparametric model for the meta-analysis of candidate gene studies with a binary outcome. Such studies often report results from association tests for different, possibly study-specific and non-overlapping genetic markers in the same genetic region. Meta-analyses of the results at each marker in isolation are seldom appropriate as they ignore the correlation that may exist between markers due to linkage disequilibrium (LD) and cannot assess the relative importance of variants at each marker. Also such marker-wise meta-analyses are restricted to only those studies that have typed the marker in question, with a potential loss of power. A better strategy is one which incorporates information about the LD between markers so that any combined estimate of the effect of each variant is corrected for the effect of other variants, as in multiple regression. Here we develop a Bayesian semiparametric model which models the observed genotype group frequencies conditional to the case/control status and uses pairwise LD measurements between markers as prior information to make posterior inference on adjusted effects. The approach allows borrowing of strength across studies and across markers. The analysis is based on a mixture of Dirichlet processes model as the underlying semiparametric model. Full posterior inference is performed through Markov chain Monte Carlo algorithms. The approach is demonstrated on simulated and real data. PMID:21400586

  8. Clinico-pathological profile of acute promyelocytic leukaemia at Al-Amal Oncology-Haematology Centre, Qatar.

    PubMed

    Ibrahim, F A; Yassin, M A; El-Ayoubi, H R; Alhiji, I A; Albinali, A S; Almansour, S M; Qafoud, F M

    2010-09-01

    This cases series describes the profile of adult patients with acute promyelocytic leukaemia (APt) at a referral hospital in Qatar. Of 34 acute myeloid leukaemia (AML) cases diagnosed, 11(32%) were classified as APt. Disseminated intravascular coagulation was common at presentation (91%). Severe thrombocytopenia was seen in 73%, leukocytosis in 55% and severe anaemia in 45%. Only 2 patients were of the classic hypergranular type. In the remaining 9 patients, 3 morphological subtypes were recognized: microgranular variant (6 patients), hyperbasophilic (2 patients) and regular nuclear outline M3r (1 patient). Translocation t(15;17) was detected in 63% of cases. APL constitutes a high proportion of AML cases in Qatar, with considerable morphological heterogeneity and a oredominance of APL variants with unfavourable oresenting features. PMID:21218723

  9. Genetic Geostatistical Framework for Spatial Analysis of Fine-Scale Genetic Heterogeneity in Modern Populations: Results from the KORA Study

    PubMed Central

    Diaz-Lacava, A. N.; Walier, M.; Holler, D.; Steffens, M.; Gieger, C.; Furlanello, C.; Lamina, C.; Wichmann, H. E.; Becker, T.

    2015-01-01

    Aiming to investigate fine-scale patterns of genetic heterogeneity in modern humans from a geographic perspective, a genetic geostatistical approach framed within a geographic information system is presented. A sample collected for prospective studies in a small area of southern Germany was analyzed. None indication of genetic heterogeneity was detected in previous analysis. Socio-demographic and genotypic data of German citizens were analyzed (212 SNPs; n = 728). Genetic heterogeneity was evaluated with observed heterozygosity (HO). Best-fitting spatial autoregressive models were identified, using socio-demographic variables as covariates. Spatial analysis included surface interpolation and geostatistics of observed and predicted patterns. Prediction accuracy was quantified. Spatial autocorrelation was detected for both socio-demographic and genetic variables. Augsburg City and eastern suburban areas showed higher HO values. The selected model gave best predictions in suburban areas. Fine-scale patterns of genetic heterogeneity were observed. In accordance to literature, more urbanized areas showed higher levels of admixture. This approach showed efficacy for detecting and analyzing subtle patterns of genetic heterogeneity within small areas. It is scalable in number of loci, even up to whole-genome analysis. It may be suggested that this approach may be applicable to investigate the underlying genetic history that is, at least partially, embedded in geographic data. PMID:26258132

  10. A genetic study of the human low-voltage electroencephalogram.

    PubMed

    Anokhin, A; Steinlein, O; Fischer, C; Mao, Y; Vogt, P; Schalt, E; Vogel, F

    1992-01-01

    The studied phenotype, the low-voltage electroencephalogram (LVEEG), is characterized by the absence of an alpha rhythm from the resting EEG. In previous studies, evidence was found for a simple autosomal-dominant mode of inheritance of the LVEEG. Such a polymorphism in brain function can be used as a research model for the stepwise elucidation of the molecular mechanism involved in those aspects of neuronal activity that are reflected in the EEG. Linkage with the variable number of tandem repeats (VNTR) marker CMM6 (D20S19) and localization of an LVEEG (EEGV1) gene on 20q have previously been reported, and genetic heterogeneity has been demonstrated. This latter result has been corroborated by studying new marker (MS214). The phenotype of the LVEEG is described here in greater detail. Its main characteristic is the absence of rhythmic alpha activity, especially in occipital leads, whereas other wave forms such as beta or theta waves may be present. Analysis of 17 new families (some of them large), together with 60 previously described nuclear families, supports the genetic hypothesis of an autosomal-dominant mode of inheritance. Problems connected with the analysis of linkage heterogeneity, exclusion mapping, and the study of multipoint linkage are discussed. A possible explanation of the localization of LVEEG in the close vicinity of another gene influencing synchronization of the normal EEG, the gene for benign neonatal epilepsie, is given.

  11. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.

    PubMed

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A; State, Matthew W; Tischfield, Jay A; Hoekstra, Pieter J; Heiman, Gary A

    2015-02-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS.

  12. COAGULASE-NEGATIVE MUTANTS OF STAPHYLOCOCCUS AUREUS: GENETIC STUDIES.

    PubMed

    KORMAN, R Z

    1963-09-01

    Korman, Ruth Z. (Cornell University, Ithaca, N.Y.). Coagulase-negative mutants of Staphylococcus aureus: genetic studies. J. Bacteriol. 86:363-369. 1963.-The behavior in mutation and transduction of pleiotropic coagulase-negative mutants of Staphylococcus aureus PS 53 (NCTC 8511) was analyzed. Coagulase-positive colonies were recovered, as well as a novel phenotype resistant to some cell-wall inhibitors and differing in sugar fermentation pattern. The hypothesis that the coagulase-negative strains differ from the original propagating strain in the structure or organization of the cell wall is discussed.

  13. Muscle channelopathies and critical points in functional and genetic studies

    PubMed Central

    Jurkat-Rott, Karin; Lehmann-Horn, Frank

    2005-01-01

    Muscle channelopathies are caused by mutations in ion channel genes, by antibodies directed against ion channel proteins, or by changes of cell homeostasis leading to aberrant splicing of ion channel RNA or to disturbances of modification and localization of channel proteins. As ion channels constitute one of the only protein families that allow functional examination on the molecular level, expression studies of putative mutations have become standard in confirming that the mutations cause disease. Functional changes may not necessarily prove disease causality of a putative mutation but could be brought about by a polymorphism instead. These problems are addressed, and a more critical evaluation of the underlying genetic data is proposed. PMID:16075040

  14. Determination of 137Cs activity in soil from Qatar using high-resolution gamma-ray spectrometry

    NASA Astrophysics Data System (ADS)

    Al-Sulaiti, Huda; Nasir, Tabassum; Al Mugren, K. S.; Alkhomashi, N.; Al-Dahan, N.; Al-Dosari, M.; Bradley, D. A.; Bukhari, S.; Matthews, M.; Regan, P. H.; Santawamaitre, T.; Malain, D.; Habib, A.; Al-Dosari, Hanan; Al Sadig, Ibrahim; Daar, Eman

    2016-10-01

    With interest in establishing baseline concentrations of 137Cs in soil from the Qatarian peninsula, we focus on determination of the activity concentrations in 129 soil samples collected across the State of Qatar prior to the 2011 Fukushima Dai-ichi nuclear power plant accident. As such, the data provides the basis of a reference map for the detection of releases of this fission product. The activity concentrations were measured via high-resolution gamma-ray spectrometry using a hyper-pure germanium detector enclosed in a copper-lined passive lead shield that was situated in a low-background environment. The activity concentrations ranged from 0.21 to 15.41 Bq/kg, with a median value of 1 Bq/kg, the greatest activity concentration being observed in a sample obtained from northern Qatar. Although it cannot be confirmed, it is expected that this contamination is mainly due to releases from the Chernobyl accident of 26 April 1986, there being a lack of data from Qatar before the accident. The values are typically within but are sometimes lower than the range indicated by data from other countries in the region. The lower values than those of others is suggested to be due to variation in soil characteristics as well as metrological factors at the time of deposition.

  15. Intestinal Parasitic Infections among Long-Term-Residents and Settled Immigrants in Qatar in the Period 2005 to 2011

    PubMed Central

    Abu-Madi, Marawan A.; Behnke, Jerzy M.; Doiphode, Sanjay H.

    2013-01-01

    The expanding economy of Qatar in the last two decades has attracted immigrants, often from countries with poor socio-economic levels. Many arrive with patent intestinal parasitic infections, and recent analyses have indicated consistently rising trends in the prevalence of some infections. Here, we examined 18,563 hospital records of subjects in Qatar seeking medical assistance for a variety of ailments, combining data from 2009 to 2011 with the earlier dataset from 2005 to 2008 to enable trends to be identified across a 7-year period. We found that 8.6% were infected with one or more species of parasites, however in contrast to the earlier period (2005–2008), in the latter 3 years there were falling trends of prevalence providing some optimism that parasitic infections among the resident immigrants have begun to decline. We identified also geographic regions from which resident workers still maintain a relatively high prevalence of helminth infections despite their long-term residence in Qatar. PMID:23478576

  16. The Qatar National Historic Environment Record: a Platform for the Development of a Fully-Integrated Cultural Heritage Management Application

    NASA Astrophysics Data System (ADS)

    Cuttler, R. T. H.; Tonner, T. W. W.; Al-Naimi, F. A.; Dingwall, L. M.; Al-Hemaidi, N.

    2013-07-01

    The development of the Qatar National Historic Environment Record (QNHER) by the Qatar Museums Authority and the University of Birmingham in 2008 was based on a customised, bilingual Access database and ArcGIS. While both platforms are stable and well supported, neither was designed for the documentation and retrieval of cultural heritage data. As a result it was decided to develop a custom application using Open Source code. The core module of this application is now completed and is orientated towards the storage and retrieval of geospatial heritage data for the curation of heritage assets. Based on MIDAS Heritage data standards and regionally relevant thesauri, it is a truly bilingual system. Significant attention has been paid to the user interface, which is userfriendly and intuitive. Based on a suite of web services and accessed through a web browser, the system makes full use of internet resources such as Google Maps and Bing Maps. The application avoids long term vendor ''tie-ins'' and as a fully integrated data management system, is now an important tool for both cultural resource managers and heritage researchers in Qatar.

  17. Genetic association studies in drug-induced liver injury.

    PubMed

    Daly, Ann K; Day, Chris P

    2009-11-01

    Genetic studies on drug-induced liver injury (DILI) have proved challenging, both because of their rarity and their difficulty in replicating observed effects. However, significant progress has now been achieved by both candidate-gene and genome-wide association studies. These two approaches are considered in detail, together with examples of DILI due to specific drugs where consistent associations have been reported. Particular consideration is given to associations between antituberculosis drug-related liver injury and the "slow acetylator" genotype for N-acetyltransferase 2, amoxicillin/clavulanate-related liver injury, and the human leukocyte antigen (HLA) class II DRB1*1501 allele and flucloxacillin-related injury and the HLA class I B*5701 allele. Although these associations are drug-specific, the possibility that additional, more general susceptibility genes for DILI exist requires further investigation, ideally by genome-wide association studies involving international collaboration. The possibility of interethnic variation in susceptibility to DILI also requires further study.

  18. Studies of genetic transformation of higher plants using irradiated pollen

    SciTech Connect

    Chyi, Y.S.

    1984-01-01

    Pandey has reported extensively on an unusual genetic phenomenon he called egg transformation. When compatible pollen was treated wth genetically lethal dosage of ..gamma..-radiation (100,000 rad), and used as mentor pollen to overcome selfincompatibility of several Nicotiana species, some genetic characters were found to be transferred from the radiation killed pollen to nonhybrid progeny. Observed transformants were fertile, cytogenetically normal, and had maternal phenotypes except for those specific traits transferred from the donors. Heavily irradiated pollen was believed to discharge its radiation-fragmented DNA (chromatin) into the embryo sac and bring about the transformation of the egg. The frequency of gene transfer was reported to be over 50%, and happened for all three characters Pandey studied - self incompatible specificities, flower color, and pollen color. Plant species studied were tomato, pea, apple, rapeseed, and Nicotiana species, including various stocks from Dr. Pandey. Treatments included pollinations with soley irradiated donor pollen, with a mixture of irradiated donor and normal self pollen, with a mixture of normal donor and self pollen, and double pollinations with irradiated donor pollen and normal self pollen, using different time intervals to separate the two pollinations. A total of 6210 pollinations were made, and 17,522 seedlings representing 87,750 potential transformational events were screened. In no case was an unambiguous transformant recovered. This research was unable to confirm or expand upon the findings of Dr. Pandey, or elucidate the mechanisms underlying such phenomena. Alternative explanations for Pandey's data were postulated. This approach to gene transfer by using irradiated pollen appears to be of little practical use to plant breeders.

  19. A genetic study of Wilson's disease in the United Kingdom.

    PubMed

    Coffey, Alison J; Durkie, Miranda; Hague, Stephen; McLay, Kirsten; Emmerson, Jennifer; Lo, Christine; Klaffke, Stefanie; Joyce, Christopher J; Dhawan, Anil; Hadzic, Nedim; Mieli-Vergani, Giorgina; Kirk, Richard; Elizabeth Allen, K; Nicholl, David; Wong, Siew; Griffiths, William; Smithson, Sarah; Giffin, Nicola; Taha, Ali; Connolly, Sally; Gillett, Godfrey T; Tanner, Stuart; Bonham, Jim; Sharrack, Basil; Palotie, Aarno; Rattray, Magnus; Dalton, Ann; Bandmann, Oliver

    2013-05-01

    Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with clinically and biochemically confirmed Wilson's disease. A total of 116 different ATP7B mutations were detected, 32 of which are novel. The overall mutation detection frequency was 98%. The likelihood of mutations in genes other than ATP7B causing a Wilson's disease phenotype is therefore very low. We report the first cases with Wilson's disease due to segmental uniparental isodisomy as well as three patients with three ATP7B mutations and three families with Wilson's disease in two consecutive generations. We determined the genetic prevalence of Wilson's disease in the United Kingdom by sequencing the entire coding region and adjacent splice sites of ATP7B in 1000 control subjects. The frequency of all single nucleotide variants with in silico evidence of pathogenicity (Class 1 variant) was 0.056 or 0.040 if only those single nucleotide variants that had previously been reported as mutations in patients with Wilson's disease were included in the analysis (Class 2 variant). The frequency of heterozygote, putative or definite disease-associated ATP7B mutations was therefore considerably higher than the previously reported occurrence of 1:90 (or 0.011) for heterozygote ATP7B mutation carriers in the general population (P < 2.2 × 10(-16) for Class 1 variants or P < 5 × 10(-11) for Class 2 variants only). Subsequent exclusion of four Class 2 variants without additional in silico evidence of pathogenicity led to a further reduction of the mutation frequency to 0.024. Using this most conservative approach, the calculated frequency of individuals predicted to carry two mutant pathogenic ATP7B alleles is 1:7026 and thus still

  20. Biochemical and Molecular Genetic Studies on Biosilica Morphogenesis in Diatoms

    NASA Astrophysics Data System (ADS)

    Kroger, N.; Poulsen, N.

    2006-12-01

    Diatoms are a large group of unicellular microalgae encased by silica cell walls that exhibit species-specific micro-and nanopatterns. Previously, we have characterized from diatoms unique phosphoproteins (termed silaffins) and unusually long polyamine chains (termed LCPA), which have both been implicated in biosilica formation. While the chemical structures of LCPA are largely conserved among different diatom species, the silaffins exhibit extensive structural variations. In vitro studies on the silica formation activities of silaffins and LCPA from the diatom Thalassiosira pseudonana indicate that silica morphogenesis is primarily determined by silaffins rather than LCPA. Recently, the complete genome sequence of T. pseudonana has become available, which for the first time opens the door to employ functional genomic approaches for studying the mechanism of silica biomineralization. To this end we have established the first genetic transformation system for T. pseudonana, which will be instrumental for analyzing the functions of silaffins in vivo, and for identifying new components of the diatom silica forming machinery. Here we describe the current knowledge on the structures and properties of silaffins and LCPA, the methods for genetic manipulation of T. pseudonana, and the first experimental steps towards functional genomics in diatoms.

  1. Experimental studies on some genetic effects of marine pollution

    NASA Astrophysics Data System (ADS)

    Battaglia, B.; Bisol, P. M.; Rodinò, E.

    1980-03-01

    Following the results of a series of investigations carried out to estimate the degree of marine pollution by utilizing certain marine filter feeders, such as the blue mussel Mytilus galloprovincialis, research has been planned to detect possible genetic effects of pollutants, with special attention to those acting at the population level. The possible selective role of pollutants has been studied both in natural ( Mytilus) and in experimental ( Tisbe holothuriae) populations by utilizing some electrophoretically-detected gene-enzyme systems as genetic markers. For some of the seven polymorphic loci studied in Mytilus (AP, LAP, 6-PGD, IDHs, IDHm, PGI, PGM) significant changes in gene frequencies have been detected which can be related to the degree of pollution in the sampling areas. In the more polluted areas these changes were accompanied by a decrease in the frequency of heterozygotes. Similar changes in gene frequencies also occurred in laboratory populations of the copepod Tisbe, reared under various experimental conditions. In particular, certain alleles of two loci, PGI-1 and AP-1, exhibited an increase in frequency, especially in populations cultured at various levels of oil pollution. This trend appeared more significant for the locus PGI. The fact that equilibria are reached and that the less favoured alleles are nevertheless maintained in the populations, even at extremely low frequencies, suggests the balanced nature of these enzyme polymorphisms. The significance of the above findings is briefly discussed.

  2. Children of the atomic bomb survivors: A genetic study

    SciTech Connect

    Neel, J.V.; Schull, W.J.

    1991-01-01

    This volume represents the results of over 40 years of study of the latent health effects on the survivors of the atomic bomb blasts. Planning for this research began in 1946 and data collection has been ongoing since 1948. The work represents the efforts of both US and Japanese agencies and presents 13 papers which the editors believe represent the best scientific information related to the genetic effects of radiation exposure. In general, the results presented here indicate that radiation exposure effects on reproductive cells are less than previously thought. The paper contained here examine that question in light of effects on pregnancy outcome, sex ratio, congenital defects, and early mortality of children. The papers also present helpful comparison of these results with the results seen in experimental radiation studies with animals. For anyone interested in the risks associated with radiation studies, this book represents a vital collection of information.

  3. Recommendations for using standardised phenotypes in genetic association studies.

    PubMed

    Naylor, Melissa G; Weiss, Scott T; Lange, Christoph

    2009-07-01

    Genetic association studies of complex traits often rely on standardised quantitative phenotypes, such as percentage of predicted forced expiratory volume and body mass index to measure an underlying trait of interest (eg lung function, obesity). These phenotypes are appealing because they provide an easy mechanism for comparing subjects, although such standardisations may not be the best way to control for confounders and other covariates. We recommend adjusting raw or standardised phenotypes within the study population via regression. We illustrate through simulation that optimal power in both population- and family-based association tests is attained by using the residuals from within-study adjustment as the complex trait phenotype. An application of family-based association analysis of forced expiratory volume in one second, and obesity in the Childhood Asthma Management Program data, illustrates that power is maintained or increased when adjusted phenotype residuals are used instead of typical standardised quantitative phenotypes.

  4. Methods to Study Metastasis in Genetically Modified Mice.

    PubMed

    Kabeer, Farhia; Beverly, Levi J; Darrasse-Jèze, Guillaume; Podsypanina, Katrina

    2016-02-01

    Metastasis is often modeled by xenotransplantation of cell lines in immunodeficient mice. A wealth of information about tumor cell behavior in the new environment is obtained from these efforts. Yet by design, this approach is "tumor-centric," as it focuses on cell-autonomous determinants of human tumor dissemination in mouse tissues, in effect using the animal body as a sophisticated "Petri dish" providing nutrients and support for tumor growth. Transgenic or gene knockout mouse models of cancer allow the study of tumor spread as a systemic disease and offer a complimentary approach for studying the natural history of cancer. This introduction is aimed at describing the overall methodological approach to studying metastasis in genetically modified mice, with a particular focus on using animals with regulated expression of potent human oncogenes in the breast. PMID:26832689

  5. Inherited neuromyotonia: a clinical and genetic study of a family.

    PubMed

    Falace, Antonio; Striano, Pasquale; Manganelli, Fiore; Coppola, Antonietta; Striano, Salvatore; Minetti, Carlo; Zara, Federico

    2007-01-01

    Neuromyotonia is a disorder of peripheral nerve hyperexcitability characterized by myokymia, muscle cramps and stiffness, delayed muscle relaxation after contraction (pseudomyotonia), and hyperhidrosis, associated with well described spontaneous electromyographic features. It is usually an acquired disorder associated with autoantibodies against neuronal voltage-gated potassium channels. However, mutations of KCNA1, encoding the K(+) channel subunit hKv1.1, have been reported in rare families with neuromyotonia, and mutations in KCNQ2, encoding voltage-gated potassium M channel subunit, in families with benign neonatal seizures and myokymia. We report a three-generation family with inherited neuromyotonia without evidence of immunological involvement. Genetic study excluded mutations in KCNA1, KCNA2, KCNA6 and KCNQ2 genes. Our study does not completely exclude the involvement of other genes encoding ion channels subunits in the pathogenesis of this disorder. Further studies of familial cases will shed light on the molecular basis of inherited neuromyotonia. PMID:17140792

  6. The Case of the "Tainted" Taco Shells: A Case Study on Genetically Modified Foods

    ERIC Educational Resources Information Center

    Taylor, Ann T. S.

    2004-01-01

    This case study introduces students to the use of genetically modified foods. Students learn how genetically modified plants are made, and then they read primary literature papers to evaluate the environmental, economic, and health issues. (Contains 2 figures.)

  7. Genetic counselor perceptions of genetic counseling session goals: a validation study of the reciprocal-engagement model.

    PubMed

    Hartmann, Julianne E; Veach, Patricia McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S

    2015-04-01

    Although some researchers have attempted to define genetic counseling practice goals, no study has obtained consensus about the goals from a large sample of genetic counselors. The Reciprocal-Engagement Model (REM; McCarthy Veach, Bartels & LeRoy, 2007) articulates 17 goals of genetic counseling practice. The present study investigated whether these goals could be generalized as a model of practice, as determined by a larger group of clinical genetic counselors. Accordingly, 194 genetic counselors were surveyed regarding their opinions about the importance of each goal and their perceptions of how frequently they achieve each goal. Mean importance ratings suggest they viewed every goal as important. Factor analysis of the 17 goals yielded four factors: Understanding and Appreciation, Support and Guidance, Facilitative Decision-Making, and Patient-Centered Education. Patient-Centered Education and Facilitative Decision-Making goals received the highest mean importance ratings. Mean frequency ratings were consistently lower than importance ratings, suggesting genetic counseling goals may be difficult to achieve and/or not applicable in all situations. A number of respondents provided comments about the REM goals that offer insight into factors related to implementing the goals in clinical practice. This study presents preliminary evidence concerning the validity of the goals component of the REM.

  8. Warranted concerns, warranted outlooks: a focus group study of public understandings of genetic research.

    PubMed

    Bates, Benjamin R; Lynch, John A; Bevan, Jennifer L; Condit, Celeste M

    2005-01-01

    This paper discusses how the American public accounts for the concerns that they have about genetic research and the benefits that they foresee. We develop a general framework for discussing public claims about genetic technology based on Stephen Toulmin's model of warrants in argumentation. After a review of the results from public opinion polls about genetic research, we present a focus group study of public understandings of genetics. We outline the warrants, or publicly accepted "good reasons", that this group offers for accepting some aspects of genetic technology and for rejecting other aspects. The warrants presented by the public in their discussion of genetic research indicate that the public has a complex, informed understanding of genetic research, albeit a non-technical one. The paper concludes with a discussion of the importance of public participation in debates over genetic research and the ways that researchers and policymakers could adapt to public concerns about genetics.

  9. Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms.

    PubMed Central

    Scozzari, R; Torroni, A; Semino, O; Sirugo, G; Brega, A; Santachiara-Benerecetti, A S

    1988-01-01

    The mtDNA of 186 Senegalese, mainly Wolof and Peuls, were analyzed by means of six restriction enzymes: HpaI, BamHI, HaeII, MspI, AvaII, and HincII. Two of the HpaI, one of the HaeII, two of the MspI, and one of the AvaII morphs had not been described before. The only enzymes which enabled Wolof and Peuls to be differentiated were HincII and, to a lesser extent, HaeII. Important differences emerge in the comparison of Senegalese with Bantu of South Africa and with Bushmen, the only other Africans who, as far as we know, were studied for the same genetic markers. Though Senegalese mtDNAs display typical African features (presence and frequency of HpaI morph 3 and high incidence of AvaII morph 3), the distribution of MspI and AvaII patterns markedly differentiates Senegalese from the others. The phylogeny of mtDNA types in Africa well portrays how the three African groups are clearly distinguishable genetic entities. Bushmen lie at one end of the range of variability, Senegalese being at the other end but still fairly closely related to Bantu. The information provided by individual restriction enzymes to the distinction among the three major ethnic groups is reviewed and discussed. Images Figure 2 Figure 3 Figure 4 Figure 5 PMID:2902791

  10. Clinicopathological and genetic study of early-onset demyelinating neuropathy.

    PubMed

    Parman, Yesim; Battaloglu, Esra; Baris, Ibrahim; Bilir, Birdal; Poyraz, Mürüvvet; Bissar-Tadmouri, Nisrine; Williams, Anna; Ammar, Nadia; Nelis, Eva; Timmerman, Vincent; De Jonghe, Peter; Najafov, Ayaz; Necefov, Ayaz; Deymeer, Feza; Serdaroglu, Piraye; Brophy, Peter J; Said, G

    2004-11-01

    Autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT4), Dejerine-Sottas disease and congenital hypomyelinating neuropathy are variants of hereditary demyelinating neuropathy of infancy, a genetically heterogeneous group of disorders. To explore the spectrum of early-onset demyelinating neuropathies further, we studied the clinicopathological and genetic aspects of 20 patients born to unaffected parents. In 19 families out of 20, consanguinity between the parents or presence of an affected sib suggested autosomal recessive transmission. Screening of various genes known to be involved in CMT4 revealed six mutations of which five are novel. Four of these novel mutations occurred in the homozygous state and include: one in GDAP1, one in MTMR2, one in PRX and one in KIAA1985. One patient was heterozygous for a novel MTMR2 mutation and still another was homozygous for the founder mutation, R148X, in NDRG1. All patients tested negative for mutations in EGR2. Histopathological examination of nerve biopsy specimens showed a severe, chronic demyelinating neuropathy, with onion bulb formation, extensive demyelination of isolated fibres and axon loss. We did not discern a specific pattern of histopathology that could be correlated to mutations in a particular gene. PMID:15469949

  11. The Relevance of HLA Sequencing in Population Genetics Studies

    PubMed Central

    Sanchez-Mazas, Alicia

    2014-01-01

    Next generation sequencing (NGS) is currently being adapted by different biotechnological platforms to the standard typing method for HLA polymorphism, the huge diversity of which makes this initiative particularly challenging. Boosting the molecular characterization of the HLA genes through efficient, rapid, and low-cost technologies is expected to amplify the success of tissue transplantation by enabling us to find donor-recipient matching for rare phenotypes. But the application of NGS technologies to the molecular mapping of the MHC region also anticipates essential changes in population genetic studies. Huge amounts of HLA sequence data will be available in the next years for different populations, with the potential to change our understanding of HLA variation in humans. In this review, we first explain how HLA sequencing allows a better assessment of the HLA diversity in human populations, taking also into account the methodological difficulties it introduces at the statistical level; secondly, we show how analyzing HLA sequence variation may improve our comprehension of population genetic relationships by facilitating the identification of demographic events that marked human evolution; finally, we discuss the interest of both HLA and genome-wide sequencing and genotyping in detecting functionally significant SNPs in the MHC region, the latter having also contributed to the makeup of the HLA molecular diversity observed today. PMID:25126587

  12. A multiple phenotype imputation method for genetic studies

    PubMed Central

    Dahl, Andrew; Iotchkova, Valentina; Baud, Amelie; Johansson, Åsa; Gyllensten, Ulf; Soranzo, Nicole; Mott, Richard; Kranis, Andreas; Marchini, Jonathan

    2016-01-01

    Genetic association studies have yielded a wealth of biologic discoveries. However, these have mostly analyzed one trait and one SNP at a time, thus failing to capture the underlying complexity of these datasets. Joint genotype-phenotype analyses of complex, high-dimensional datasets represent an important way to move beyond simple GWAS with great potential. The move to high-dimensional phenotypes will raise many new statistical problems. In this paper we address the central issue of missing phenotypes in studies with any level of relatedness between samples. We propose a multiple phenotype mixed model and use a computationally efficient variational Bayesian algorithm to fit the model. On a variety of simulated and real datasets from a range of organisms and trait types, we show that our method outperforms existing state-of-the-art methods from the statistics and machine learning literature and can boost signals of association. PMID:26901065

  13. A new dawn for genetic association studies in multiple sclerosis.

    PubMed

    Kantarci, Orhun H

    2016-08-01

    Before the genomics technology revolution allowed us to do genome-wide science, genetics research relied on our limited knowledge about a subject to generate hypothesis and candidate genes to study. Despite the level of naiveté, several associations with susceptibility to a complex disease such as multiple sclerosis (MS) were discovered. Of these, HLA-DRB1 and IL7R (1) stand out as being confirmed and refined early by the genome-wide association studies (GWAS) that followed.(2) Despite the expense and gargantuan efforts, these GWAS have successfully led to the discovery of more than 100 additional genes, albeit with smaller effect sizes, that contribute to MS susceptibility.(3) This list keeps growing, but it comes with no surprise that most of these genes identified the immune system as one large candidate for MS susceptibility. PMID:27540593

  14. [The study of tomato fruit weight quantitative trait locus and its application in genetics teaching].

    PubMed

    Wang, Haiyan

    2015-08-01

    The classical research cases, which have greatly promoted the development of genetics in history, can be combined with the content of courses in genetics teaching to train students' ability of scientific thinking and genetic analysis. The localization and clone of gene controlling tomato fruit weight is a pioneer work in quantitative trait locus (QTL) studies and represents a complete process of QTL research in plants. Application of this integrated case in genetics teaching, which showed a wonderful process of scientific discovery and the fascination of genetic research, has inspired students' interest in genetics and achieved a good teaching effect.

  15. Protecting genetic materials and genetic information: a case study of Guthrie Cards in Victoria.

    PubMed

    Lawson, C; Smith, R

    2001-11-01

    The authors are privileged to have been provided with correspondence about a dispute over the ongoing storage of genetic material (as Guthrie Cards) in Victoria. The correspondence details confusion over the roles of government and the private sector service provider in accounting for the storage, use and destruction of these stored genetic materials collected as part of a government public health program. The purpose in publishing this account is to highlight the present inadequacies in current practices and the ongoing potential for a crisis in the management of collected genetic materials through a lack of appropriate regulation, transparency and accountability. The article suggests measures to remedy some of the existing inadequacies in contractual arrangements and recommends that the government retain ownership and control of both the genetic materials and the derived information to ensure some accountability in the present legal environment.

  16. Genetic studies in relation to kuru: an overview.

    PubMed

    Goldfarb, L G; Cervenakova, L; Gajdusek, D C

    2004-06-01

    Kuru is a subacute neurodegenerative disease presenting with limb ataxia, dysarthria, and a shivering tremor. The disease progress to complete motor and mental incapacity and death within 6 to 24 months. Neuropathologically, a typical pattern of neuronal loss, astrocytic and microglial proliferation, characteristic "kuru-type" amyloid plaques, and PrP deposits in the cerebral cortex and cerebellum are observed. Kuru is the prototype of a group of human transmissible spongiform encephalopathies (TSEs), or "prion" diseases, that include hereditary, sporadic and infectious forms. The latest member of this group, the variant Creutzfeldt-Jakob disease (vCJD), linked to transmission of bovine spongiform encephalopathy (BSE) to humans, shows features similar to kuru. Kuru has emerged at the beginning of the 1900s in a small indigenous population of New-Guinean Eastern Highlands, reached epidemic proportions in the mid-1950s and disappeared progressively in the latter half of the century to complete absence at the end of the 1990s. Early studies made infection, the first etiologic assumption, seem unlikely and led to a hypothesis that kuru might be a genetically determined or genetically mediated illness. After transmissibility of kuru had been discovered and all major epidemiologic phenomena adequately explained by the spread of an infectious agent with long incubation period through the practice of cannibalism, the pattern of occurrence still continued to suggest a role for genetic predisposition. Recent studies indicate that individuals homozygous for Methionine at a polymorphic position 129 of the prion protein were preferentially affected during the kuru epidemic. The carriers of the alternative 129Met/Val and 129Val/Val genotypes had a longer incubation period and thus developed disease at a later age and at a later stage of the epidemic. Observations made during the kuru epidemic are helpful in the understanding of the current vCJD outbreak, and vice versa clinical

  17. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    PubMed

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  18. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    PubMed

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  19. Severe respiratory illness associated with a novel coronavirus--Saudi Arabia and Qatar, 2012.

    PubMed

    2012-10-12

    CDC is working closely with the World Health Organization (WHO) and other partners to better understand the public health risk presented by a recently detected, novel coronavirus. This virus has been identified in two patients, both previously healthy adults who suffered severe respiratory illness. The first patient, a man aged 60 years from Saudi Arabia, was hospitalized in June 2012 and died; the second patient, a man aged 49 years from Qatar with onset of symptoms in September 2012 was transported to the United Kingdom for intensive care. He remains hospitalized on life support with both pulmonary and renal failure. Person-to-person or health-care-associated transmission has not been identified to date. Interim case definitions based on acute respiratory illness and travel history were issued by WHO on September 29 and include criteria for "patient under investigation," "probable case," and "confirmed case". This information is current as of October 4. Updates on the investigation and the WHO case definition are available at http://www.who.int/csr/don/en/index.html. PMID:23051613

  20. Motor vehicle injuries in Qatar: time trends in a rapidly developing Middle Eastern nation.

    PubMed

    Mamtani, Ravinder; Al-Thani, Mohammed H; Al-Thani, Al-Anoud Mohammed; Sheikh, Javaid I; Lowenfels, Albert B

    2012-04-01

    Despite their wealth and modern road systems, traffic injury rates in Middle Eastern countries are generally higher than those in Western countries. The authors examined traffic injuries in Qatar during 2000-2010, a period of rapid population growth, focusing on the impact of speed control cameras installed in 2007 on overall injury rates and mortality. During the period 2000-2006, prior to camera installation, the mean (SD) vehicular injury death rate per 100,000 was 19.9±4.1. From 2007 to 2010, the mean (SD) vehicular death rates were significantly lower: 14.7±1.5 (p=0.028). Non-fatal severe injury rates also declined, but mild injury rates increased, perhaps because of increased traffic congestion and improved notification. It is possible that speed cameras decreased speeding enough to affect the death rate, without affecting overall injury rates. These data suggest that in a rapidly growing Middle Eastern country, photo enforcement (speed) cameras can be an important component of traffic control, but other measures will be required for maximum impact.

  1. Integration of solar process heat into an existing thermal desalination plant in Qatar

    NASA Astrophysics Data System (ADS)

    Dieckmann, S.; Krishnamoorthy, G.; Aboumadi, M.; Pandian, Y.; Dersch, J.; Krüger, D.; Al-Rasheed, A. S.; Krüger, J.; Ottenburger, U.

    2016-05-01

    The water supply of many countries in the Middle East relies mainly on water desalination. In Qatar, the water network is completely fed with water from desalination plants. One of these power and desalination plants is located in Ras Abu Fontas, 20 km south of the capital Doha. The heat required for thermal desalination is provided by steam which is generated in waste heat recovery boilers (HRB) connected to gas turbines. Additionally, gas fired boilers or auxiliary firing in the HRBs are used in order to decouple the water generation from the electricity generation. In Ras Abu Fontas some auxiliary boilers run 24/7 because the HRB capacity does not match the demand of the desalination units. This paper contains the techno-economic analysis of two large-scale commercial solar field options, which could reduce the fuel consumption significantly. Both options employ parabolic trough technology with a nominal saturated steam output of 350 t/h at 15 bar (198°C, 240 MW). The first option uses direct steam generation without storage while the second relies on common thermal oil in combination with a molten salt thermal storage with 6 hours full-load capacity. The economic benefit of the integration of solar power depends mainly on the cost of the fossil alternative, and thus the price (respectively opportunity costs) of natural gas. At a natural gas price of 8 US-/MMBtu the internal rate of return on equity (IRR) is expected at about 5%.

  2. Genetic Studies on Diabetic Microvascular Complications: Focusing on Genome-Wide Association Studies

    PubMed Central

    Kwak, Soo Heon

    2015-01-01

    Diabetes is a common metabolic disorder with a worldwide prevalence of 8.3% and is the leading cause of visual loss, end-stage renal disease and amputation. Recently, genome-wide association studies (GWASs) have identified genetic risk factors for diabetic microvascular complications of retinopathy, nephropathy, and neuropathy. We summarized the recent findings of GWASs on diabetic microvascular complications and highlighted the challenges and our opinion on future directives. Five GWASs were conducted on diabetic retinopathy, nine on nephropathy, and one on neuropathic pain. The majority of recent GWASs were underpowered and heterogeneous in terms of study design, inclusion criteria and phenotype definition. Therefore, few reached the genome-wide significance threshold and the findings were inconsistent across the studies. Recent GWASs provided novel information on genetic risk factors and the possible pathophysiology of diabetic microvascular complications. However, further collaborative efforts to standardize phenotype definition and increase sample size are necessary for successful genetic studies on diabetic microvascular complications. PMID:26194074

  3. Familial Scheuermann disease: a genetic and linkage study.

    PubMed Central

    McKenzie, L; Sillence, D

    1992-01-01

    Scheuermann juvenile kyphosis or Scheuermann disease is the most frequent cause of kyphosis in adolescence. However, the natural history and genetic basis is still unknown. Reports of identical radiological changes in monozygotic twins, sib recurrence, and transmission over three generations suggest underlying heritability. In this study, 12 probands were referred to us. Upon radiological examination of the proband's parents and sibs, seven were shown to have familial Scheuermann disease with an autosomal dominant pattern of inheritance. Of the remaining five probands, four had chromosomal anomalies. The three largest pedigrees were subjected to linkage analysis with three candidate genes: Duffy, COL1A1, and COL1A2. Linkage of Scheuermann disease was excluded with Duffy (lod score = -2.195 at theta = 0.10) and COL1A2 (lod score = -2.750 at theta = 0.05) in these families. Images PMID:1552543

  4. Genetically modified mouse models in studies of luteinising hormone action.

    PubMed

    Huhtaniemi, Ilpo; Ahtiainen, Petteri; Pakarainen, Tomi; Rulli, Susana B; Zhang, Fu-Ping; Poutanen, Matti

    2006-06-27

    Numerous genetically modified mouse models have recently been developed for the study of the pituitary-gonadal interactions. They include spontaneous or engineered knockouts (KO) of the gonadotrophin-releasing hormone (GnRH) and its receptor, the gonadotrophin common-alpha(Calpha), luteinising hormone (LH) beta and follicle-stimulating hormone (FSH) beta subunits, and the two gonadotrophin receptors (R), LHR and FSHR. In addition, there are also transgenic (TG) mice overexpressing gonadotrophin subunits and producing supraphysiological levels of these hormones. These models have offered relevant phenocopies for similar mutations in humans and to a great extent expanded our knowledge on normal and pathological functions of the hypothalamic-pituitary-gonadal (HPG) axis. The purpose of this article is to review some of our recent findings on two such mouse models, the LHR KO mouse (LuRKO), and the hCG overexpressing TG mouse (hCG+).

  5. Mismatches in genetic markers in a large family study.

    PubMed Central

    Ashton, G C

    1980-01-01

    The Hawaii Family Study of Cognition provided an opportunity to investigate the frequency and implications of non-agreement, or mismatches, between observed and expected genetic marker phenotypes of husbands, wives, and children. Mismatch data from 68 families in which one or both spouses were known not to be a biological parent were used to determine the rate of undeclared nonparentage in 1,748 families in which conventional relationships were claimed. Two independent approaches gave consistent estimates, suggesting that approximately 2.3% of the 2,839 tested children from these families were probably the result of infidelity, concealed adoption, or another event. About two-thirds of the mismatches detected were probably due to properties of the techniques employed. PMID:6930820

  6. Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.

    PubMed

    Greenberg, David A; Subaran, Ryan

    2011-01-01

    Although it is accepted that idiopathic generalized epilepsy (IGE) is strongly, if not exclusively, influenced by genetic factors, there is little consensus on what those genetic influences may be, except for one point of agreement: epilepsy is a "channelopathy." This point of agreement has continued despite the failure of studies investigating channel genes to demonstrate the primacy of their influence on IGE expression. The belief is sufficiently entrenched that the more important issues involving phenotype definition, data collection, methods of analysis, and the interpretation of results have become subordinate to it. The goal of this article is to spark discussion of where the study of epilepsy genetics has been and where it is going, suggesting we may never get there if we continue on the current road. We use the long history of psychiatric genetic studies as a mirror and starting point to illustrate that only when we expand our outlook on how to study the genetics of the epilepsies, consider other mechanisms that could lead to epilepsy susceptibility, and, especially, focus on the critical problem of phenotype definition, will the major influences on common epilepsy begin to be understood. PMID:21219301

  7. Epistatic study reveals two genetic interactions in blood pressure regulation

    PubMed Central

    2013-01-01

    Background Although numerous candidate gene and genome-wide association studies have been performed on blood pressure, a small number of regulating genetic variants having a limited effect have been identified. This phenomenon can partially be explained by possible gene-gene/epistasis interactions that were little investigated so far. Methods We performed a pre-planned two-phase investigation: in phase 1, one hundred single nucleotide polymorphisms (SNPs) in 65 candidate genes were genotyped in 1,912 French unrelated adults in order to study their two-locus combined effects on blood pressure (BP) levels. In phase 2, the significant epistatic interactions observed in phase 1 were tested in an independent population gathering 1,755 unrelated European adults. Results Among the 9 genetic variants significantly associated with systolic and diastolic BP in phase 1, some may act through altering the corresponding protein levels: SNPs rs5742910 (Padjusted≤0.03) and rs6046 (Padjusted =0.044) in F7 and rs1800469 (Padjusted ≤0.036) in TGFB1; whereas some may be functional through altering the corresponding protein structure: rs1800590 (Padjusted =0.028, SE=0.088) in LPL and rs2228570 (Padjusted ≤9.48×10-4) in VDR. The two epistatic interactions found for systolic and diastolic BP in the discovery phase: VCAM1 (rs1041163) * APOB (rs1367117), and SCGB1A1 (rs3741240) * LPL (rs1800590), were tested in the replication population and we observed significant interactions on DBP. In silico analyses yielded putative functional properties of the SNPs involved in these epistatic interactions trough the alteration of corresponding protein structures. Conclusions These findings support the hypothesis that different pathways and then different genes may act synergistically in order to modify BP. This could highlight novel pathophysiologic mechanisms underlying hypertension. PMID:23298194

  8. Population genetic studies in the genomic sequencing era

    PubMed Central

    CHEN, Hua

    2015-01-01

    Recent advances in high-throughput sequencing technologies have revolutionized the field of population genetics. Data now routinely contain genomic level polymorphism information, and the low cost of DNA sequencing enables researchers to investigate tens of thousands of subjects at a time. This provides an unprecedented opportunity to address fundamental evolutionary questions, while posing challenges on traditional population genetic theories and methods. This review provides an overview of the recent methodological developments in the field of population genetics, specifically methods used to infer ancient population history and investigate natural selection using large-sample, large-scale genetic data. Several open questions are also discussed at the end of the review. PMID:26228473

  9. Studying genetic research participants: lessons from the "Learning About Research in North Carolina" study.

    PubMed

    Corbie-Smith, Giselle; Blumenthal, Connie; Henderson, Gail; Garrett, Joanne; Bussey-Jones, Jada; Moloney, Mairead; Sandler, Robert S; Lloyd, Stacey W; Dorrance, Jessica; Darter, Jane

    2008-08-01

    Given the prohibitive cost of recruiting large and diverse populations for genetic explorations in cancer research, there has been a call for genetic studies to engage existing cohorts of research participants. This strategy could lead to more efficient recruitment and potentially result in significant advances in the understanding of cancer etiology and treatment. The Learning About Research in North Carolina (LeARN) study responded to the National Human Genome Research Institute interest in research on how study participants from diverse populations who had participated in genetic research perceived the risks and benefits of participating in combined epidemiologic-genetic research, how well they understand the purpose of the research and the uses to which the research results may be put, and how involvement in such research affects perceptions of disease causality. In this article, we give an overview of the LeARN study, summarizing the methods we used, challenges we encountered, and lessons learned about recruiting participants who have previously participated in genetic research.

  10. Structural equation model for estimating risk factors in type 2 diabetes mellitus in a Middle Eastern setting: evidence from the STEPS Qatar

    PubMed Central

    Ali, Faleh Mohamed Hussain; Reka, Husein; Renwick, Matthew J; Roman, Gabriela D; Mossialos, Elias

    2016-01-01

    Aims Understanding type 2 diabetes mellitus is critical for designing effective diabetes prevention policies in Qatar and the Middle East. Methods Using the Qatar 2012 WHO STEPwise approach to surveillance survey, a subsample of 1224 Qatari participants aged 18–64 years was selected. Subjects had their fasting blood glucose levels tested, had not been diagnosed with or treated for diabetes, had a fasting time >12 hours and were not pregnant. We applied a hypothesized structural equation model (SEM) to assess sociodemographic, behavioral, anthropometric and metabolic variables affecting persons with type 2 diabetes mellitus. Results There is a direct effect of triglyceride levels (0.336) and body mass index (BMI) (0.164) on diabetes status. We also found that physical activity levels negatively affect BMI (−0.148) and positively affect high-density lipoprotein (HDL) (0.106); sociodemographic background negatively affects diet (−0.522) and BMI (−0.352); HDL positively affects total cholesterol (0.230) and has a negative effect on BMI (−0.108), triglycerides (−0.128) and waist circumference (−0.104). Diet has a positive effect on triglycerides (0.281) while family history of diabetes negatively affects total cholesterol (−0.104). BMI has a positive effect on waist circumference (0.788) and mediates the effects of physical activity over diabetes status (−0.028). BMI also mediates the effects that sociodemographic factors (−0.058) and physical activity (−0.024) have on diabetes status. BMI and HDL (−0.002) together mediate the effect of physical activity on diabetes status and similarly HDL and tryglycerides (−0.005) also mediate the effect of physical activity on diabetes status. Finally diet and tryglycerides mediate the effects that sociodemographic factors have on diabetes status (−0.049). Conclusions This study's main finding is that triglyceride levels and BMI are the main variables directly affecting diabetes status in the Qatari

  11. What's in a name; Genetic structure in Solanum section Petota studied using population-genetic tools

    PubMed Central

    2011-01-01

    Background The taxonomy and systematic relationships among species of Solanum section Petota are complicated and the section seems overclassified. Many of the presumed (sub)species from South America are very similar and they are able to exchange genetic material. We applied a population genetic approach to evaluate support for subgroups within this material, using AFLP data. Our approach is based on the following assumptions: (i) accessions that may exchange genetic material can be analyzed as if they are part of one gene pool, and (ii) genetic differentiation among species is expected to be higher than within species. Results A dataset of 566 South-American accessions (encompassing 89 species and subspecies) was analyzed in two steps. First, with the program STRUCTURE 2.2 in an 'unsupervised' procedure, individual accessions were assigned to inferred clusters based on genetic similarity. The results showed that the South American members of section Petota could be arranged in 16 clusters of various size and composition. Next, the accessions within the clusters were grouped by maximizing the partitioning of genetic diversity among subgroups (i.e., maximizing Fst values) for all available individuals of the accessions (2767 genotypes). This two-step approach produced an optimal partitioning into 44 groups. Some of the species clustered as genetically distinct groups, either on their own, or combined with one or more other species. However, accessions of other species were distributed over more than one cluster, and did not form genetically distinct units. Conclusions We could not find any support for 43 species (almost half of our dataset). For 28 species some level of support could be found varying from good to weak. For 18 species no conclusions could be drawn as the number of accessions included in our dataset was too low. These molecular data should be combined with data from morphological surveys, with geographical distribution data, and with information from

  12. Genetic Studies of Stuttering in a Founder Population

    PubMed Central

    Wittke-Thompson, Jacqueline K.; Ambrose, Nicoline; Yairi, Ehud; Roe, Cheryl; Cook, Edwin H.; Ober, Carole; Cox, Nancy J.

    2007-01-01

    Genome-wide linkage and association analyses were conducted to identify genetic determinants of stuttering in a founder population in which 48 individuals affected with stuttering are connected in a single 232-person genealogy. A novel approach was devised to account for all necessary relationships to enable multipoint linkage analysis. Regions with nominal evidence for linkage were found on chromosomes 3 (P=0.013, 208.8 centiMorgans (cM)), 13 (P=0.012, 52.6 cM), and 15 (P=0.02, 100 cM). Regions with nominal evidence for association with stuttering that overlapped with a linkage signal are located on chromosomes 3 (P=0.0047, 195 cM), 9 (P=0.0067, 46.5 cM), and 13 (P=0.0055, 52.6 cM). We also conducted the first meta-analysis for stuttering using results from linkage studies in the Hutterites and The Illinois International Genetics of Stuttering Project and identified regions with nominal evidence for linkage on chromosomes 2 (P=0.013, 180–195 cM) and 5 (P=0.0051, 105–120 cM; P=0.015, 120–135 cM). None of the linkage signals detected in the Hutterite sample alone, or in the meta-analysis, meet genome-wide criteria for significance, although some of the stronger signals overlap linkage mapping signals previously reported for other speech and language disorders. PMID:17276504

  13. Multilocus Sequence Typing for Studying Genetic Relationships among Yersinia Species

    PubMed Central

    Kotetishvili, Mamuka; Kreger, Arnold; Wauters, Georges; Morris, J. Glenn; Sulakvelidze, Alexander; Stine, O. Colin

    2005-01-01

    The intra- and interspecies genetic relationships of 58 strains representing all currently known species of the genus Yersinia were examined by multilocus sequence typing (MLST), using sequence data from 16S RNA, glnA, gyrB, recA, and Y-HSP60 loci. Yersinia aldovae, Y. bercovieri, Y. intermedia, Y. pestis, Y. pseudotuberculosis, Y. rohdei, and Y. ruckeri were genetically more homogeneous than were Y. enterocolitica, Y. frederiksenii, Y. kristensenii, and Y. mollaretii. The MLST data concerning the genetic relatedness within and among various species of Yersinia support the idea that Y. pestis and Y. pseudotuberculosis are two lineages within the same species rather than two distinct species. Y. ruckeri is the genetically most distant species within the genus. There was evidence of O-antigen switching and genetic recombination within and among various species of Yersinia. The genetic relatedness data obtained by MLST of the four housekeeping genes and 16S RNA agreed in most, but not all, instances. MLST was better suited for determining genetic relatedness among yersiniae than was 16S RNA analysis. Some strains of Y. frederiksenii and Y. kristensenii are genetically less related to other strains within those species, compared to strains of all other species within the genus. The taxonomic standing of these strains should be further examined because they may represent currently unrecognized Yersinia species. PMID:15956383

  14. Multilocus sequence typing for studying genetic relationships among Yersinia species.

    PubMed

    Kotetishvili, Mamuka; Kreger, Arnold; Wauters, Georges; Morris, J Glenn; Sulakvelidze, Alexander; Stine, O Colin

    2005-06-01

    The intra- and interspecies genetic relationships of 58 strains representing all currently known species of the genus Yersinia were examined by multilocus sequence typing (MLST), using sequence data from 16S RNA, glnA, gyrB, recA, and Y-HSP60 loci. Yersinia aldovae, Y. bercovieri, Y. intermedia, Y. pestis, Y. pseudotuberculosis, Y. rohdei, and Y. ruckeri were genetically more homogeneous than were Y. enterocolitica, Y. frederiksenii, Y. kristensenii, and Y. mollaretii. The MLST data concerning the genetic relatedness within and among various species of Yersinia support the idea that Y. pestis and Y. pseudotuberculosis are two lineages within the same species rather than two distinct species. Y. ruckeri is the genetically most distant species within the genus. There was evidence of O-antigen switching and genetic recombination within and among various species of Yersinia. The genetic relatedness data obtained by MLST of the four housekeeping genes and 16S RNA agreed in most, but not all, instances. MLST was better suited for determining genetic relatedness among yersiniae than was 16S RNA analysis. Some strains of Y. frederiksenii and Y. kristensenii are genetically less related to other strains within those species, compared to strains of all other species within the genus. The taxonomic standing of these strains should be further examined because they may represent currently unrecognized Yersinia species.

  15. A novel genetic framework for studying response to artificial selection

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Response to selection is fundamental to plant breeding. To gain insight into the genetic basis of response to selection, we propose a new experimental genetic framework to simultaneously map loci controlling specific traits associated with population improvement and characterize the allele frequenc...

  16. Exploring Genetic and Environmental Effects in Dysphonia: A Twin Study

    ERIC Educational Resources Information Center

    Simberg, Susanna; Santtila, Pekka; Soveri, Anna; Varjonen, Markus; Sala, Eeva; Sandnabba, N. Kenneth

    2009-01-01

    Purpose: To explore the existence of genetic effects as well as the interaction between potential genetic effects and a voice-demanding occupation on dysphonia. Method: One thousand seven hundred and twenty-eight Finnish twins (555 male; 1,173 female) born between 1961 and 1989 completed a questionnaire concerning vocal symptoms and occupation.…

  17. Hamartomatous polyps - a clinical and molecular genetic study.

    PubMed

    Jelsig, Anne Marie

    2016-08-01

    Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance. Patients with one or a few juvenile polyps are usually not offered clinical follow-up as the polyp(s) are considered not to harbour any malignant potential. Nevertheless, it is important to note that juvenile polyps and HPs are also found in patients with hereditary hamartomatous polyposis syndromes (HPS). Patients with HPS have an increased risk of cancer, recurrences of polyps, and extraintestinal complications. The syndromes are important to diagnose, as patients should be offered surveillance from childhood or early adolescence. The syndromes include juvenile polyposis syndrome, Peutz-Jeghers syndrome, and the PTEN hamartoma tumour syndrome. Currently, the HPS diagnoses are based on clinical criteria and are often assisted with genetic testing as candidate genes have been described for each syndrome. This thesis is based on six scientific papers. The overall aim of the studies was to expand the knowledge on clinical course and molecular genetics in patients with HPs and HPS, and to investigate research participants' attitude towards the results of extensive genetic testing.   Paper I: In the first paper we investigated the occurrence, anatomic distribution, and other demographics of juvenile polyps in the colon and rectum in Denmark in 1995-2014. Based on the Danish Pathology Data Bank we found that 1772 patients had 2108 JPs examined in the period, and we

  18. Genetic Diversity in Gorkhas: an Autosomal STR Study

    PubMed Central

    Preet, Kiran; Malhotra, Seema; Shrivastava, Pankaj; Jain, Toshi; Rawat, Shweta; Varte, L. Robert; Singh, Sayar; Singh, Inderjeet; Sarkar, Soma

    2016-01-01

    Genotyping of highly polymorphic autosomal short tandem repeat (STR) markers is a potent tool for elucidating genetic diversity. In the present study, fifteen autosomal STR markers were analyzed in unrelated healthy male Gorkha individuals (n = 98) serving in the Indian Army by using AmpFlSTR Identifiler Plus PCR Amplification Kit. In total, 138 alleles were observed with corresponding allele frequencies ranging from 0.005 to 0.469. The studied loci were in Hardy-Weinberg Equilibrium (HWE). Heterozygosity ranged from 0.602 to 0.867. The most polymorphic locus was Fibrinogen Alpha (FGA) chain which was also the most discriminating locus as expected. Neighbor Joining (NJ) tree and principal component analysis (PCA) plot clustered the Gorkhas with those of Nepal and other Tibeto-Burman population while lowlander Indian population formed separate cluster substantiating the closeness of the Gorkhas with the Tibeto-Burman linguistic phyla. Furthermore, the dataset of STR markers obtained in the study presents a valuable information source of STR DNA profiles from personnel for usage in disaster victim identification in military exigencies and adds to the Indian database of military soldiers and military hospital repository. PMID:27580933

  19. Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben).

    PubMed

    Staneva, Rada G; Balabanski, L; Dimova, I; Rukova, B; Hadjidekova, S; Dimitrov, P; Simeonov, V; Ivanov, S; Vagarova, R; Malinov, M; Cukuranovic, R; Stefanovic, V; Polenakovic, M; Djonov, V; Galabov, A; Toncheva, D

    2015-01-01

    BEN is a primary, chronic tubulointerstitial nephritis characterized with chronic anemia, absence of edema, xantoderma, normal blood pressure and normal findings on the fundus oculi. The disease is distributed in restricted areas in Bulgaria, Romania, Croatia, Bosnia, Former Yugoslavia. Despite numerous studies on genetic and environmental factors and their possible involvement in BEN, its etiopathogenesis still remains elusive. Our recent study aim to elucidate the possible epigenetic component in BEN development. Whole genome DNA array methylation analysis was applied to compare the methylation profiles of male and female BEN patients from endemic regions in Bulgaria and Serbia and healthy controls. All three most prominent candidate genes with aberrations in the epigenetic profile discovered with this study are involved in the inflammatory/immune processes and oncogenesis. These data are in concordance with the reported pathological alterations in BEN. This research supports the role of epigenetic changes in BEN pathology. Exome sequencing of 22.000 genes with Illumina Nextera Exome Enrichment Kit revealed three mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients which encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN. PMID:27442376

  20. Genetic Diversity in Gorkhas: an Autosomal STR Study.

    PubMed

    Preet, Kiran; Malhotra, Seema; Shrivastava, Pankaj; Jain, Toshi; Rawat, Shweta; Varte, L Robert; Singh, Sayar; Singh, Inderjeet; Sarkar, Soma

    2016-01-01

    Genotyping of highly polymorphic autosomal short tandem repeat (STR) markers is a potent tool for elucidating genetic diversity. In the present study, fifteen autosomal STR markers were analyzed in unrelated healthy male Gorkha individuals (n = 98) serving in the Indian Army by using AmpFlSTR Identifiler Plus PCR Amplification Kit. In total, 138 alleles were observed with corresponding allele frequencies ranging from 0.005 to 0.469. The studied loci were in Hardy-Weinberg Equilibrium (HWE). Heterozygosity ranged from 0.602 to 0.867. The most polymorphic locus was Fibrinogen Alpha (FGA) chain which was also the most discriminating locus as expected. Neighbor Joining (NJ) tree and principal component analysis (PCA) plot clustered the Gorkhas with those of Nepal and other Tibeto-Burman population while lowlander Indian population formed separate cluster substantiating the closeness of the Gorkhas with the Tibeto-Burman linguistic phyla. Furthermore, the dataset of STR markers obtained in the study presents a valuable information source of STR DNA profiles from personnel for usage in disaster victim identification in military exigencies and adds to the Indian database of military soldiers and military hospital repository. PMID:27580933

  1. The Minnesota Adoption Studies: genetic differences and malleability.

    PubMed

    Scarr, S; Weinberg, R A

    1983-04-01

    In 1974 we launched 2 large adoption studies for 2 quite different purposes. The Transracial Adoption Study was designed to test the hypothesis that black and interracial children reared by white families perform on IQ and school achievement tests as well as other adoptees because they are reared in the culture of the tests and the schools. In addition, transracial families provided a sample with large numbers of adopted and natural children in the same families. Sources of individual differences among siblings could be studied without fear of possible differences between adoptive families and those with their own children. The Adolescent Adoption Study was designed to assess the cumulative impact of differences among family environments at the end of the child-rearing period. All of the children were adopted in the first year of life and averaged 18.5 years at the time of the study. A comparison sample of families with their own adolescents was also studied. Black and interracial children scored as well on IQ tests as adoptees in other studies. Individual differences among them, however, were more related to differences among their biological than adoptive parents, whether they lived together or not. Young siblings were found to be intellectually quite similar, whether genetically related or not. Adolescents' IQ test scores were similar to those of their parents and siblings only if they were biologically related. Our interpretation of these results is that younger children are more influenced by differences among their family environments than older adolescents, who are freer to seek their own niches.

  2. From genetic studies to precision medicine in alcohol dependence.

    PubMed

    Sun, Yan; Zhang, Yan; Wang, Fan; Sun, Yankun; Shi, Jie; Lu, Lin

    2016-04-01

    Genetic factors contribute to more than 50% of the variation in the vulnerability to alcohol dependence (AD). Although significant advances have been made in medications for AD, these medications do not work for all people. Precise tailoring of medicinal strategies for individual alcoholic patients is needed to achieve optimal outcomes. This review updates the most promising information on genetic variants in AD, which may be useful for improving diagnostic, therapeutic, and monitoring strategies. We describe genetic candidates of various neurotransmitter and enzyme systems. In addition to biological and allelic associations with AD, genetic effects on AD-related phenotypes and treatment responses have also been described. Gene-gene and gene-environment interactions have been considered. Potential applications of genomewide and epigenetic approaches for identifying genetic biomarkers of AD have been discussed. Overall, the application of genetic findings in precision medicine for AD will likely involve an integrated approach that distinguishes effect sizes of specific genetic predictors with regard to sex, pharmacotherapy, ethnicity, and AD-related aspects and considers gene-gene and gene-environment interactions. Our work may pave the way toward more precise treatment for AD that could ultimately improve clinical management and interventions. PMID:26580132

  3. Genetic analysis of tolerance to infections using random regressions: a simulation study.

    PubMed

    Kause, Antti

    2011-08-01

    Tolerance to infections is the ability of a host to limit the impact of a given pathogen burden on host performance. This simulation study demonstrated the merit of using random regressions to estimate unbiased genetic variances for tolerance slope and its genetic correlations with other traits, which could not be obtained using the previously implemented statistical methods. Genetic variance in tolerance was estimated as genetic variance in regression slopes of host performance along an increasing pathogen burden level. Random regressions combined with covariance functions allowed genetic variance for host performance to be estimated at any point along the pathogen burden trajectory, providing a novel means to analyse infection-induced changes in genetic variation of host performance. Yet, the results implied that decreasing family size as well as a non-zero environmental or genetic correlation between initial host performance before infection and pathogen burden led to biased estimates for tolerance genetic variance. In both cases, genetic correlation between tolerance slope and host performance in a pathogen-free environment became artificially negative, implying a genetic trade-off when it did not exist. Moreover, recording a normally distributed pathogen burden as a threshold trait is not a realistic way of obtaining unbiased estimates for tolerance genetic variance. The results show that random regressions are suitable for the genetic analysis of tolerance, given suitable data structure collected either under field or experimental conditions. PMID:21767462

  4. Confounding and heterogeneity in genetic association studies with admixed populations.

    PubMed

    Liu, Jinghua; Lewinger, Juan Pablo; Gilliland, Frank D; Gauderman, W James; Conti, David V

    2013-02-15

    Association studies among admixed populations pose many challenges including confounding of genetic effects due to population substructure and heterogeneity due to different patterns of linkage disequilibrium (LD). We use simulations to investigate controlling for confounding by indicators of global ancestry and the impact of including a covariate for local ancestry. In addition, we investigate the use of an interaction term between a single-nucleotide polymorphism (SNP) and local ancestry to capture heterogeneity in SNP effects. Although adjustment for global ancestry can control for confounding, additional adjustment for local ancestry may increase power when the induced admixture LD is in the opposite direction as the LD in the ancestral population. However, if the induced LD is in the same direction, there is the potential for reduced power because of overadjustment. Furthermore, the inclusion of a SNP by local ancestry interaction term can increase power when there is substantial differential LD between ancestry populations. We examine these approaches in genome-wide data using the University of Southern California's Children's Health Study investigating asthma risk. The analysis highlights rs10519951 (P = 8.5 × 10(-7)), a SNP lacking any evidence of association from a conventional analysis (P = 0.5).

  5. "Genetic Engineering" Gains Momentum (Science/Society Case Study).

    ERIC Educational Resources Information Center

    Moore, John W.; Moore, Elizabeth A., Eds.

    1980-01-01

    Reviews the benefits and hazards of genetic engineering, or "recombinant-DNA" research. Recent federal safety rules issued by NIH which ease the strict prohibitions on recombinant-DNA research are explained. (CS)

  6. [Study on tests of genetics experiments in universities].

    PubMed

    Jie, He; Hao, Zhang; Lili, Zhang

    2015-03-01

    Based on the present situation and the development of experiment tests in universities, we introduced a reform in tests of genetics experiments. According to the teaching goals and course contents of genetics experiment, the tests of genetics experiments contain four aspects on the performance of students: the adherence to the experimental procedures, the depth of participation in experiment, the quality of experiment report, and the mastery of experiment principles and skills, which account for 10 %, 20 %, 40 % and 30 % in the total scores, respectively. All four aspects were graded quantitatively. This evaluation system has been tested in our experiment teaching. The results suggest that it has an effect on the promotion of teaching in genetics experiments.

  7. Raman spectroscopic study of a genetically altered kidney cell

    NASA Astrophysics Data System (ADS)

    Joshi, Joel; Garcia, Francisco; Centeno, Silvia P.; Joshi, N. V.

    2008-02-01

    A Raman spectroscopic investigation of a genetically altered Human Embryonic Kidney Cell (HEK293) along with a pathologically normal cell has been carried out by a conventional method. The genetic alteration was carried out with a standard protocol by using a Green Fluorescence Protein (GFP). Raman spectra show that there are dramatic differences between the spectrum obtained from a genetically altered cell and that obtained from a pathologically normal cell. The former shows three broad bands; meanwhile the latter shows several sharp peaks corresponding to the ring vibrational modes of Phen, GFP and DNA. The present analysis provides an indication that the force field near Phen located at 64, 65 and 66 was altered during the genetic transformation. The Raman spectrum could be a direct experimental evidence for substantial modifications triggered due to the expression of specific genes.

  8. Genetic transformation: a tool to study protein targeting in diatoms.

    PubMed

    Kroth, Peter G

    2007-01-01

    Diatoms are unicellular photoautotrophic eukaryotes that play an important role in ecology by fixing large amounts of CO2 in the oceans. Because they evolved by secondary endocytobiosis-- a process of uptake of a eukaryotic alga into another eukaryotic cell--they have a rather unusual cell biology and genetic constitution. Because the preparation of organelles is rather difficult as a result of the cytosolic structures, genetic transformation and expression of preproteins fused to green fluorescent protein (GFP) became one of the major tools to analyze subcellular localization of proteins in diatoms. Meanwhile several groups successfully attempted to develop genetic transformation protocols for diatoms. These methods are based on "biolistic" DNA delivery via a particle gun and allow the introduction and expression of foreign genes in the algae. Here a protocol for the genetic transformation of the diatom Phaeodactylum tricornutum is described as well as the subsequent characterization of the transformants. PMID:17951693

  9. Phenotype-Based Genetic Association Studies (PGAS)-Towards Understanding the Contribution of Common Genetic Variants to Schizophrenia Subphenotypes.

    PubMed

    Ehrenreich, Hannelore; Nave, Klaus-Armin

    2014-01-01

    Neuropsychiatric diseases ranging from schizophrenia to affective disorders and autism are heritable, highly complex and heterogeneous conditions, diagnosed purely clinically, with no supporting biomarkers or neuroimaging criteria. Relying on these "umbrella diagnoses", genetic analyses, including genome-wide association studies (GWAS), were undertaken but failed to provide insight into the biological basis of these disorders. "Risk genotypes" of unknown significance with low odds ratios of mostly <1.2 were extracted and confirmed by including ever increasing numbers of individuals in large multicenter efforts. Facing these results, we have to hypothesize that thousands of genetic constellations in highly variable combinations with environmental co-factors can cause the individual disorder in the sense of a final common pathway. This would explain why the prevalence of mental diseases is so high and why mutations, including copy number variations, with a higher effect size than SNPs, constitute only a small part of variance. Elucidating the contribution of normal genetic variation to (disease) phenotypes, and so re-defining disease entities, will be extremely labor-intense but crucial. We have termed this approach PGAS ("phenotype-based genetic association studies"). Ultimate goal is the definition of biological subgroups of mental diseases. For that purpose, the GRAS (Göttingen Research Association for Schizophrenia) data collection was initiated in 2005. With >3000 phenotypical data points per patient, it comprises the world-wide largest currently available schizophrenia database (N > 1200), combining genome-wide SNP coverage and deep phenotyping under highly standardized conditions. First PGAS results on normal genetic variants, relevant for e.g., cognition or catatonia, demonstrated proof-of-concept. Presently, an autistic subphenotype of schizophrenia is being defined where an unfortunate accumulation of normal genotypes, so-called pro-autistic variants of

  10. Geology and petrology of the Hormuz dolomite, Infra-Cambrian: Implications for the formation of the salt-cored Halul and Shraouh islands, Offshore, State of Qatar

    NASA Astrophysics Data System (ADS)

    Nasir, Sobhi; Al-Saad, Hamad; Alsayigh, Abudlrazak; Weidlich, Oliver

    2008-08-01

    Geological investigations of the Halul and the Shraouh islands, offshore Qatar, indicate that most of their calcareous rocks, which display abundant stromatolitic bedding, belong to the Infra-Cambrian Hormuz Series. Mineralogical, petrological, and geochemical analyses show that these calcareous rocks consist dominantly of dolomite and have formed in a reducing depositional environment. Faint laminations and small streaks of organic matter furnish evidence for the involvement of algal mats in their genesis and indicate their formation in an intertidal to supratidal setting. The Halul and Shraouh dolomites experienced extensive recrystallization and sulfatization during the emplacement of the Halul and Shraouh salt domes that form the cores of the islands. During mobilization and ascent of the salt, the dolomite recrystallized, and its Sr initial ratios were abnormally enhanced by the incorporation of 87Sr from a source, which is more radiogenic than the attendant seawater at the time of the dolomite formation near the Proterozoic-Cambrian boundary. Geochemical analysis show that Si, Al, Ti Zr, and % of insoluble residue are highly correlative, suggesting the presence of detrital minerals such as rutile and zircon. A paleosabkha model may well agree with this chemical signature. However, the Infra-Cambrian age of the Hormuz rocks and the presence of stromatolitic layers containing organic materials in the studied rocks, suggest that organogenic dolomitization could be an alternative dolomitization model.

  11. Mishandling and exposure of farm workers in Qatar to organophosphate pesticides.

    PubMed

    Shomar, Basem; Al-Saad, Khalid; Nriagu, Jerome

    2014-08-01

    We used a combination of subjective (questionnaire) and objective (urinary metabolites) measurements to evaluate factors that can predict the exposure of farm workers in Qatar to organophosphate pesticides and to assess whether the levels of exposure are associated with any self-reported health outcomes. The results show that pesticides were being extensively mishandled in the farms. Very few (<2%) of the farm workers knew the names of the pesticide they were using, and about one-third of the participants did not know the amount of pesticides to be applied to the crops. Nearly all (96%) of the participants had participated in mixing pesticides together before use and few (29%) used protective clothing while engaged in this operation. A significant number of participants (18%) had no knowledge that pesticides are a health hazard. At least one dialkyllphosphate (DAP) metabolite was detected in every worker. The geometric mean (GM) concentration of the dimethylalkylphosphates (DMAP) was 108 nM (range, from below the limit of detection (LOD) to 351 nM), and the GM for the diethylalkylphosphates (DEAP) was 43 nM (range, LOD-180 nM). The GM for total concentration of the metabolites (DAP) of 146 nM (maximum value estimated to be 531 nM) is below the values that have been reported for farmers in some countries, but higher than the levels in the general populations of many countries. We explored the influence of metal exposure and found consistent and negative relationships between the DAP metabolites and the concentrations of most of the trace elements in the urine of the farm workers; the negative associations were statistically significant for Cr, Mn, Fe, Ni, As, and Pb. We suspect that the negative associations are not source-dependent but may be reflective of antagonistic relationships in human metabolism of OPPs and trace metals; hence we recommend that metals should be included as co-factors in assessing the health effects of OPP exposure.

  12. Studying circadian rhythm and sleep using genetic screens in Drosophila.

    PubMed

    Axelrod, Sofia; Saez, Lino; Young, Michael W

    2015-01-01

    The power of Drosophila melanogaster as a model organism lies in its ability to be used for large-scale genetic screens with the capacity to uncover the genetic basis of biological processes. In particular, genetic screens for circadian behavior, which have been performed since 1971, allowed researchers to make groundbreaking discoveries on multiple levels: they discovered that there is a genetic basis for circadian behavior, they identified the so-called core clock genes that govern this process, and they started to paint a detailed picture of the molecular functions of these clock genes and their encoded proteins. Since the discovery that fruit flies sleep in 2000, researchers have successfully been using genetic screening to elucidate the many questions surrounding this basic animal behavior. In this chapter, we briefly recall the history of circadian rhythm and sleep screens and then move on to describe techniques currently employed for mutagenesis and genetic screening in the field. The emphasis lies on comparing the newer approaches of transgenic RNA interference (RNAi) to classical forms of mutagenesis, in particular in their application to circadian behavior and sleep. We discuss the different screening approaches in light of the literature and published and unpublished sleep and rhythm screens utilizing ethyl methanesulfonate mutagenesis and transgenic RNAi from our lab.

  13. Genetic and environmental influences on impulsivity: A meta-analysis of twin, family and adoption studies

    PubMed Central

    Bezdjian, Serena; Baker, Laura A.; Tuvblad, Catherine

    2011-01-01

    A meta-analysis of twin, family and adoption studies was conducted to estimate the magnitude of genetic and environmental influences on impulsivity. The best fitting model for 41 key studies (58 independent samples from 14 month old infants to adults; N = 27,147) included equal proportions of variance due to genetic (0.50) and non-shared environmental (0.50) influences, with genetic effects being both additive (0.38) and non-additive (0.12). Shared environmental effects were unimportant in explaining individual differences in impulsivity. Age, sex, and study design (twin vs. adoption) were all significant moderators of the magnitude of genetic and environmental influences on impulsivity. The relative contribution of genetic effects (broad sense heritability) and unique environmental effects were also found to be important throughout development from childhood to adulthood. Total genetic effects were found to be important for all ages, but appeared to be strongest in children. Analyses also demonstrated that genetic effects appeared to be stronger in males than in females. Method of assessment (laboratory tasks vs. questionnaires), however, was not a significant moderator of the genetic and environmental influences on impulsivity. These results provide a structured synthesis of existing behavior genetic studies on impulsivity by providing a clearer understanding of the relative genetic and environmental contributions in impulsive traits through various stages of development. PMID:21889436

  14. Genetic linkage study of bipolar disorder and the serotonin transporter

    SciTech Connect

    Kelsoe, J.R.; Morison, M.; Mroczkowski-Parker, Z.; Bergesch, P.; Rapaport, M.H.; Mirow, A.L.

    1996-04-09

    The serotonin transporter (HTT) is an important candidate gene for the genetic transmission of bipolar disorder. It is the site of action of many antidepressants, and plays a key role in the regulation of serotonin neurotransmission. Many studies of affectively ill patients have found abnormalities in serotonin metabolism, and dysregulation of the transporter itself. The human serotonin transporter has been recently cloned and mapped to chromosome 17. We have identified a PstI RFLP at the HTT locus, and here report our examination of this polymorphism for possible linkage to bipolar disorder. Eighteen families were examined from three populations: the Old Order Amish, Iceland, and the general North American population. In addition to HTT, three other microsatellite markers were examined, which span an interval known to contain HTT. Linkage analyses were conducted under both dominant and recessive models, as well as both narrow (bipolar only) and broad (bipolar + recurrent unipolar) diagnostic models. Linkage could be excluded to HTT under all models examined. Linkage to the interval spanned by the microsatellites was similarly excluded under the dominant models. In two individual families, maximum lod scores of 1.02 and 0.84 were obtained at D17S798 and HTT, respectively. However, these data overall do not support the presence of a susceptibility locus for bipolar disorder near the serotonin transporter. 20 refs., 2 tabs.

  15. Genetic Models for the Study of Luteinizing Hormone Receptor Function

    PubMed Central

    Narayan, Prema

    2015-01-01

    The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is essential for fertility in men and women. LHCGR binds luteinizing hormone (LH) as well as the highly homologous chorionic gonadotropin. Signaling from LHCGR is required for steroidogenesis and gametogenesis in males and females and for sexual differentiation in the male. The importance of LHCGR in reproductive physiology is underscored by the large number of naturally occurring inactivating and activating mutations in the receptor that result in reproductive disorders. Consequently, several genetically modified mouse models have been developed for the study of LHCGR function. They include targeted deletion of LH and LHCGR that mimic inactivating mutations in hormone and receptor, expression of a constitutively active mutant in LHCGR that mimics activating mutations associated with familial male-limited precocious puberty and transgenic models of LH and hCG overexpression. This review summarizes the salient findings from these models and their utility in understanding the physiological and pathological consequences of loss and gain of function in LHCGR signaling. PMID:26483755

  16. Genetic study of host factors in gastrocarcinogenesis in rats.

    PubMed

    Morino, K; Ohgaki, H; Matsukura, N; Kawachi, T; Sugimura, T

    1982-01-01

    The effects of genetic factors on gastrocarcinogenesis in rats were studied by giving 83 micrograms/ml of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG) in the drinking-water to ACI strain rats, Buffalo strain rats, and their F1 hybrid rats for eight months. Animals were sacrificed on the 505th experimental day and examined histologically. The incidences of gastric carcinoma were as follows (no. of carcinoma-bearing rats/no. of effective animals): ACI rats, 86% (12/14) of males and 53% (9/17) of females; Buffalo rats, 19% (3/16) of males and 0% (0/13) of females; F1 hybrids between ACI and Buffalo rats, 23% (7/30) of males and 3% (1/32) of females. The incidence of gastric carcinoma in F1 hybrids was significantly lower than that in ACI rats but not significantly different from that in Buffalo rats. These results suggest that resistance to gastrocarcinogenesis by MNNG is an autosomally dominant trait.

  17. A genome-wide Asian genetic map and ethnic comparison: The GENDISCAN study

    PubMed Central

    Ju, Young Seok; Park, Hansoo; Lee, Mi Kyeong; Kim, Jong-Il; Sung, Joohon; Cho, Sung-Il; Seo, Jeong-Sun

    2008-01-01

    Background Genetic maps provide specific positions of genetic markers, which are required for performing genetic studies. Linkage analyses of Asian families have been performed with Caucasian genetic maps, since appropriate genetic maps of Asians were not available. Different ethnic groups may have different recombination rates as a result of genomic variations, which would generate misspecification of the genetic map and reduce the power of linkage analyses. Results We constructed the genetic map of a Mongolian population in Asia with CRIMAP software. This new map, called the GENDISCAN map, is based on genotype data collected from 1026 individuals of 73 large Mongolian families, and includes 1790 total and 1500 observable meioses. The GENDISCAN map provides sex-averaged and sex-specific genetic positions of 1039 microsatellite markers in Kosambi centimorgans (cM) with physical positions. We also determined 95% confidence intervals of genetic distances of the adjacent marker intervals. Genetic lengths of the whole genome, chromosomes and adjacent marker intervals are compared with those of Rutgers Map v.2, which was constructed based on Caucasian populations (Centre d'Etudes du Polymorphisme Humain (CEPH) and Icelandic families) by mapping methods identical to those of the GENDISCAN map, CRIMAP software and the Kosambi map function. Mongolians showed approximately 1.9 fewer recombinations per meiosis than Caucasians. As a result, genetic lengths of the whole genome and chromosomes of the GENDISCAN map are shorter than those of Rutgers Map v.2. Thirty-eight marker intervals differed significantly between the Mongolian and Caucasian genetic maps. Conclusion The new GENDISCAN map is applicable to the genetic study of Asian populations. Differences in the genetic distances between the GENDISCAN and Caucasian maps could facilitate elucidation of genomic variations between different ethnic groups. PMID:19025666

  18. A systematic molecular genetic approach to study mammalian germline development

    PubMed Central

    Abe, Kuniya; Ko, Minoru S. H.; MacGregor, Grant R.

    2011-01-01

    It is difficult to study gene expression in mammalian embryonic germ cells as PGCs constitute only a minor proportion of the mouse embryo. We have overcome this problem by using a novel combination of established molecular and transgenic approaches. A line of mice has been generated in which the cells of the germ lineage express the β-galactosidase reporter gene during embryogenesis. Using this line, germ cells have been purified to near homogeneity from embryos at discrete stages during germline development by use of a stain for β-gal activity and a fluorescence activated cell sorter. Subsequently, cDNA libraries have been constructed from each germ cell population using a modified lone-linker PCR strategy. These combined cDNA libraries represent genes expressed in PGCs during mammalian germline development. To facilitate a molecular genetic approach to studying mammalian germline development, these cDNA libraries will be pooled to form an arrayed, addressed reference embryonic germ cell cDNA library. In parallel with large-scale cDNA sequencing efforts, genes that are differentially expressed in germ cells will be identified by screening the reference library with probes generated by subtractive hybridization. Complementary DNAs identified using this approach will be analyzed by sequencing, database comparison, genomic mapping and in situ hybridization to ascertain the potential functional importance of each gene to germline development. In addition to providing a wealth of novel information regarding patterns of gene expression during mammalian germline development, these results will form the basis for future experiments to determine the function of these genes in this process. PMID:9853837

  19. Studies on Monitoring and Tracking Genetic Resources: An Executive Summary

    PubMed Central

    Garrity, George M.; Thompson, Lorraine M.; Ussery, David W.; Paskin, Norman; Baker, Dwight; Desmeth, Philippe; Schindel, D.E.; Ong, P.S.

    2009-01-01

    The principles underlying fair and equitable sharing of benefits derived from the utilization of genetic resources are set out in Article 15 of the UN Convention on Biological Diversity, which stipulate that access to genetic resources is subject to the prior informed consent of the country where such resources are located and to mutually agreed terms regarding the sharing of benefits that could be derived from such access. One issue of particular concern for provider countries is how to monitor and track genetic resources once they have left the provider country and enter into use in a variety of forms. This report was commissioned to provide a detailed review of advances in DNA sequencing technologies, as those methods apply to identification of genetic resources, and the use of globally unique persistent identifiers for persistently linking to data and other forms of digital documentation that is linked to individual genetic resources. While the report was written for an audience with a mixture of technical, legal, and policy backgrounds it is relevant to the genomics community as it is an example of downstream application of genomics information. PMID:21304641

  20. Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

    PubMed

    Geelen, Els; Horstman, Klasien; Marcelis, Carlo L M; Doevendans, Pieter A; Van Hoyweghen, Ine

    2012-10-01

    Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic discrimination exists, little is known about the origins and backgrounds of fears of discrimination and how it affects decisions for uptake of genetic testing. The aim of this article is to gain a better understanding of these fears and its possible impact on the uptake of testing by studying the case of hypertrophic cardiomyopathy (HCM). In a qualitative study, we followed six Dutch extended families involved in genetic testing for HCM for three-and-a-half years. Semi-structured interviews were conducted with 57 members of these families. Based on the narratives of the families, we suggest that fears of discrimination have to be situated in the broader social and life-course context of family and kin. We describe the processes in which families developed meaningful interpretations of genetic discrimination and how these interpretations affected family members' decisions to undergo genetic testing. Our findings show that fears of genetic discrimination do not so much stem from the opportunity of genetic testing but much more from earlier experiences of discrimination of diseased family members. These results help identify the possible limitations of genetic non-discrimination regulations and provide direction to clinicians supporting their clients as they confront issues of genetic testing and genetic discrimination.

  1. A Genetically Informed Study of the Intergenerational Transmission of Marital Instability

    ERIC Educational Resources Information Center

    D'Onofrio, Brian M.; Turkheimer, Eric; Emery, Robert E.; Harden, K. Paige; Slutske, Wendy S.; Heath, Andrew C.; Madden, Pamela A. F.; Martin, Nicholas G.

    2007-01-01

    Environmental or genetic influences, or both could account for the increased risk of divorce among the offspring of separated parents. Previous studies have used covariates to statistically control for confounds, but the present research is the first genetically informed study of the topic. The investigation used the Children of Twins Design with…

  2. Genetic vectors as a tool in association studies: definitions and application for study of rheumatoid arthritis.

    PubMed

    Sandalov, Igor; Padyukov, Leonid

    2015-01-01

    To identify putative relations between different genetic factors in the human genome in the development of common complex disease, we mapped the genetic data to an ensemble of spin chains and analysed the data as a quantum system. Each SNP is considered as a spin with three states corresponding to possible genotypes. The combined genotype represents a multispin state, described by the product of individual-spin states. Each person is characterized by a single genetic vector (GV) and individuals with identical GVs comprise the GV group. This consolidation of genotypes into GVs provides integration of multiple genetic variants for a single statistical test and excludes ambiguity of biological interpretation known for allele and haplotype associations. We analyzed two independent cohorts, with 2633 rheumatoid arthritis cases and 2108 healthy controls, and data for 6 SNPs from the HTR2A locus plus shared epitope allele. We found that GVs based on selected markers are highly informative and overlap for 98.3% of the healthy population between two cohorts. Interestingly, some of the GV groups contain either only controls or only cases, thus demonstrating extreme susceptibility or protection features. By using this new approach we confirmed previously detected univariate associations and demonstrated the most efficient selection of SNPs for combined analyses for functional studies. PMID:25834811

  3. Facing Human Capital Challenges of the 21st Century: Education and Labor Market Initiatives in Lebanon, Oman, Qatar, and the United Arab Emirates

    ERIC Educational Resources Information Center

    Gonzalez, Gabriella; Karoly, Lynn A.; Constant, Louay; Salem, Hanine; Goldman, Charles A.

    2008-01-01

    Countries in the Arab region are faced with the challenge of developing their populations' skills and technical knowledge, or human capital, in order to compete in the 21st century global economy. The authors describe the education and labor market initiatives implemented or under way in four countries in the Arab region -- Lebanon, Oman, Qatar,…

  4. Informed consent, participation in, and withdrawal from a population based cohort study involving genetic analysis

    PubMed Central

    Matsui, K; Kita, Y; Ueshima, H

    2005-01-01

    Design: Descriptive analyses. Setting and participants: The study evaluated two non-genetic subcohorts comprising 3166 people attending for a health checkup during 2002, and two genetic subcohorts comprising 2195 people who underwent a checkup during 2003. Main outcome measurements: Analysis endpoints were differences in participation rates between the non-genetic and genetic subcohorts, differences between providing non-extensive and extensive preliminary information, and changes in participation status between baseline and at 6 months. Results: Participation rates in the genetic subcohorts were 4·7–9·3% lower than those in the non-genetic subcohorts. The odds ratios (OR) of participation in genetic research were between 0·60 and 0·77, and the OR for withdrawal from the research was over 7·70; providing preliminary extensive information about genetic research reduced the withdrawal risks (OR 0·15 for all dependent variables) but worsened participation rates (OR 0·63–0·74). Conclusions: The general population responded sceptically towards genetic research. It is crucial that genetic researchers utilise an informative and educational consent process worthy of public trust. PMID:15994356

  5. Genetic Studies of Stuttering in a Founder Population

    ERIC Educational Resources Information Center

    Wittke-Thompson, Jacqueline K.; Ambrose, Nicoline; Yairi, Ehud; Roe, Cheryl; Cook, Edwin H.; Ober, Carole; Cox, Nancy J.

    2007-01-01

    Genome-wide linkage and association analyses were conducted to identify genetic determinants of stuttering in a founder population in which 48 individuals affected with stuttering are connected in a single 232-person genealogy. A novel approach was devised to account for all necessary relationships to enable multipoint linkage analysis. Regions…

  6. What Can the Study of Genetics Offer to Educators?

    ERIC Educational Resources Information Center

    Thomas, Michael S. C.; Kovas, Yulia; Meaburn, Emma L.; Tolmie, Andrew

    2015-01-01

    This article explores the potential contribution of modern genetic methods and findings to education. It is familiar to hear that the "gene" for this or that behavior has been discovered, or that certain skills are "highly heritable." Can this help educators? To explore this question, we describe the methods used to relate…

  7. Genetic determinants of bone mass in adults. A twin study.

    PubMed Central

    Pocock, N A; Eisman, J A; Hopper, J L; Yeates, M G; Sambrook, P N; Eberl, S

    1987-01-01

    The relative importance of genetic factors in determining bone mass in different parts of the skeleton is poorly understood. Lumbar spine and proximal femur bone mineral density and forearm bone mineral content were measured by photon absorptiometry in 38 monozygotic and 27 dizygotic twin pairs. Bone mineral density was significantly more highly correlated in monozygotic than in dizygotic twins for the spine and proximal femur and in the forearm of premenopausal twin pairs, which is consistent with significant genetic contributions to bone mass at all these sites. The lesser genetic contribution to proximal femur and distal forearm bone mass compared with the spine suggests that environmental factors are of greater importance in the aetiology of osteopenia of the hip and wrist. This is the first demonstration of a genetic contribution to bone mass of the spine and proximal femur in adults and confirms similar findings of the forearm. Furthermore, bivariate analysis suggested that a single gene or set of genes determines bone mass at all sites. PMID:3624485

  8. Ninos Desaparecidos: A Case Study about Genetics and Human Rights.

    ERIC Educational Resources Information Center

    Chamany, Katayoun

    2001-01-01

    Provides information on the experiences of 50 children displaced during Argentina's "dirty war" of the 1970s who underwent DNA and protein analysis and subsequently were reunited with their biological families. Considers not only genetic evidence but the moral, political, and emotional dimensions of these children's stories as well. (Contains 19…

  9. Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases

    PubMed Central

    Amos, Christopher I.; Bafna, Vineet; Hauser, Elizabeth R.; Hernandez, Ryan D.; Li, Chun; Liberles, David A.; McAllister, Kimberly; Moore, Jason H.; Paltoo, Dina N.; Papanicolaou, George J.; Peng, Bo; Ritchie, Marylyn D.; Rosenfeld, Gabriel; Witte, John S.

    2014-01-01

    Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled “Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases” at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to: (i) identify opportunities, challenges and resource needs for the development and application of genetic simulation models; (ii) improve the integration of tools for modeling and analysis of simulated data; and (iii) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation. PMID:25371374

  10. Genetic simulation tools for post-genome wide association studies of complex diseases.

    PubMed

    Chen, Huann-Sheng; Hutter, Carolyn M; Mechanic, Leah E; Amos, Christopher I; Bafna, Vineet; Hauser, Elizabeth R; Hernandez, Ryan D; Li, Chun; Liberles, David A; McAllister, Kimberly; Moore, Jason H; Paltoo, Dina N; Papanicolaou, George J; Peng, Bo; Ritchie, Marylyn D; Rosenfeld, Gabriel; Witte, John S; Gillanders, Elizabeth M; Feuer, Eric J

    2015-01-01

    Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application of novel analytical tools in genetic epidemiology studies. With continuing advances in high-throughput genomic technologies and generation and analysis of larger, more complex data sets, there is a need for updating current approaches in genetic simulation modeling. To provide a forum to address current and emerging challenges in this area, the National Cancer Institute (NCI) sponsored a workshop, entitled "Genetic Simulation Tools for Post-Genome Wide Association Studies of Complex Diseases" at the National Institutes of Health (NIH) in Bethesda, Maryland on March 11-12, 2014. The goals of the workshop were to (1) identify opportunities, challenges, and resource needs for the development and application of genetic simulation models; (2) improve the integration of tools for modeling and analysis of simulated data; and (3) foster collaborations to facilitate development and applications of genetic simulation. During the course of the meeting, the group identified challenges and opportunities for the science of simulation, software and methods development, and collaboration. This paper summarizes key discussions at the meeting, and highlights important challenges and opportunities to advance the field of genetic simulation.

  11. Informed consent for human genetic and genomic studies: a systematic review.

    PubMed

    Khan, A; Capps, B J; Sum, M Y; Kuswanto, C N; Sim, K

    2014-09-01

    As genetic and genomic studies grow in scale, there are ethical concerns related to the collection and use of genetic information. The emergence of large public databases potentially redefine the terms of participation in genetic and genomic research, and suggests the changing application of traditional ethical principles such as privacy or consent. For this study, we wanted to see whether such developments are reflected in the informed consent processes in human genetic and genomic studies. Therefore, we performed a systematic review of the empirical studies that examined informed consent involving large genetic databases in human genetic and genomic studies, grouped the identified issues related to the different stakeholders (including subjects, researchers, and institutional review boards) and discussed the limitations and implications of these findings. Major themes related to the place of bioethical considerations, procured tissues, people involved, process of informed consent and study procedures. Frequently raised issues included confidentiality of participants, documentation of informed consent, public attitudes, future use of participant samples or data, and disclosure of results. Awareness and attention to these bioethical issues as well as assiduousness in managing these concerns in genetic/genomic research would further strengthen and safeguard the rights, safety and well-being of genetic research participants.

  12. Genetic linkage studies in autosomal recessive retinitis pigmentosa

    SciTech Connect

    Mansfield, D.C.; Teague, P.W.; Barber, A.

    1994-09-01

    Autosomal recessive retinitis pigmentosa (arRP) is a severe retinal dystrophy characterized by night blindness, progressive constriction of the visual fields and loss of central vision in the fourth or fifth decades. The frequency of this form of retinitis pigmentosa (RP) varies in different populations. Mutations within the rhodopsin, cyclic GMP phosphodiesterase-{beta} subunit and cGMP-gated channel genes have been reported in some arRP families. The genetic loci responsible for the majority of cases have yet to be identified. Genetic heterogeneity is likely to be extensive. In order to minimize the amount of genetic heterogenity, a set of arRP families was ascertained within the South-Central Sardinian population, in which 81% of families with a known mode of inheritance show an autosomal recessive form of RP. The Sardinian population is an ethnic {open_quotes}outlier{close_quotes}, having remained relatively isolated from mainland and other cultures. Genetic linkage data has been obtained in a set of 11 Sardinian arRP kindreds containing 26 affected members. Under the assumption of genetic homogeneity, no evidence of linkage was found in the arRP kindreds using 195 markers, which excluded 62% of the genome (Z<-2). Positive lod scores were obtained with D14S80 which showed no recombination in a subset of 5 families. Heterogeneity testing using D14S80 and arRP showed no significant evidence of heterogeneity (p=0.18) but evidence of linkage ({chi}{sup 2}=3.64, p=0.028). We are currently screening the neural retina-specific leucine zipper gene (NRL) in 14q11 for mutations as a candidate locus.

  13. [Cancer pharmacogenetics: study of genetically determined variations on cancer susceptibility due to xenobiotic exposure].

    PubMed

    Quiñones, Luis; Lee, Kuen; Varela F, Nelson; Escala, Mario; García, Karen; Godoy, Loreto; Castro, Andrés; Soto, Jorge; Saavedra, Iván; Cáceres, Dante

    2006-04-01

    Pharmacogenetics is the study of genetically determined variations in the response to drugs and toxic agents, and their implications on disease. Recently, the discipline has acquired great relevancy due to the development of non-invasive molecular techniques that identify genetic variants in human beings. There is also a need to explain the individual differences in susceptibility to drug actions and disease risk. Genetic variants can modify the magnitude of a pharmacologic effect, toxicity threshold, secondary effects and drug interactions. There are approximately thirty families of drug-metabolizing enzymes with genetic variants that cause functional alterations and variations in pharmacologic activity. We summarize the general knowledge about genetic variants of biotransformation enzymes, their relationship with cancer risk and the role of ethnicity. Cancer pharmacogenetics is another promising and exciting research area that will explain why people with an almost identical group of genes, have a different susceptibility to cancer, whose etiology has genetic and environmental components.

  14. The impact of information order on intentions to undergo predictive genetic testing: an experimental study.

    PubMed

    Morrison, Val; Henderson, Bethan J; Taylor, Caroline; A'Ch Dafydd, Nonn; Unwin, Abbie

    2010-10-01

    As predictive genetic testing availability increases so does our need to understand factors associated with test uptake. This study tests whether the order positive and negative information about genetic testing for breast cancer is presented in affects intention to take a genetic test. Eighty-four women were randomly allocated into three groups: (1) positive then negative information; (2) negative then positive information; and (3) a control group. A significant effect was found in relation to perceived risk, attitudes towards genetic testing, perceived disadvantages of testing and intention. Our findings point to a primacy effect, whereby information presented first has the greatest effect.

  15. Genetic Complexity of Episodic Memory: A Twin Approach to Studies of Aging

    PubMed Central

    Kremen, William S.; Spoon, Kelly M.; Jacobson, Kristen C.; Vasilopoulos, Terrie; McCaffery, Jeanne M.; Panizzon, Matthew S.; Franz, Carol E.; Vuoksimaa, Eero; Xian, Hong; Rana, Brinda K.; Toomey, Rosemary; McKenzie, Ruth; Lyons, Michael J.

    2016-01-01

    Episodic memory change is a central issue in cognitive aging, and understanding that process will require elucidation of its genetic underpinnings. A key limiting factor in genetically informed research on memory has been lack of attention to genetic and phenotypic complexity, as if “memory is memory” and all well-validated assessments are essentially equivalent. Here we applied multivariate twin models to data from late-middle-aged participants in the Vietnam Era Twin Study of Aging to examine the genetic architecture of 6 measures from 3 standard neuropsychological tests: the California Verbal Learning Test-2, and Wechsler Memory Scale-III Logical Memory (LM) and Visual Reproductions (VR). An advantage of the twin method is that it can estimate the extent to which latent genetic influences are shared or independent across different measures before knowing which specific genes are involved. The best-fitting model was a higher order common pathways model with a heritable higher order general episodic memory factor and three test-specific subfactors. More importantly, substantial genetic variance was accounted for by genetic influences that were specific to the latent LM and VR subfactors (28% and 30%, respectively) and independent of the general factor. Such unique genetic influences could partially account for replication failures. Moreover, if different genes influence different memory phenotypes, they could well have different age-related trajectories. This approach represents an important step toward providing critical information for all types of genetically informative studies of aging and memory. PMID:24956007

  16. Genetic studies of freshwater turtle and tortoises: a review of the past 70 years

    USGS Publications Warehouse

    FitzSimmons, Nancy N.; Hart, Kristen M.

    2007-01-01

    Powerful molecular techniques have been developed over many decades for resolving genetic relationships, population genetic structure, patterns of gene flow, mating systems, and the amount of genetic diversity in animals. Genetic studies of turtles were among the earliest and the rapid application of new genetic tools and analytical techniques is still apparent in the literature on turtles. At present, of the 198 freshwater turtles and tortoises that are listed as not extinct by the IUCN Red List, 69 species worldwide are listed as endangered or critically endangered, and an additional 56 species are listed as vulnerable. Of the ca. 300 species of the freshwater turtles and tortoises in the world, ca. 42% are considered to be facing a high risk extinction, and there is a need to focus intense conservation attention on these species. This includes a need to (i) assess our current state of knowledge regarding the application of genetics to studies of freshwater turtles and tortoises and (ii) determine future research directions. Here, we review all available published studies for the past 70 years that were written in English and used genetic markers (e.g. karyotypes, allozymes, DNA loci) to better understand the biology of freshwater turtles and tortoises. We review the types of studies conducted in relation to the species studied and quantify the countries where the studies were performed. We rack the changing use of different genetic markers through time and report on studies focused on aspects of molecular evolution within turtle genomes. We address the usefulness of particular genetic markers to answer phylogenetic questions and present data comparing population genetic structure and mating systems across species. We draw specific attention to whether authors have considered issues to turtle conservation in their research or provided new insights that have been translated into recommendations for conservation management.

  17. Exposing College Students to Exercise: The Training Interventions and Genetics of Exercise Response (TIGER) Study

    ERIC Educational Resources Information Center

    Sailors, Mary H.; Jackson, Andrew S.; McFarlin, Brian K.; Turpin, Ian; Ellis, Kenneth J.; Foreyt, John P.; Hoelscher, Deanna M.; Bray, Molly S.

    2010-01-01

    Objective: The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. Participants: A multiracial/ethnic cohort (N = 1,567; 39% male), age 18 to 35 years,…

  18. Genetic thinking in the study of social relationships: Five points of entry

    PubMed Central

    Reiss, David

    2014-01-01

    For nearly a generation, researchers studying human behavioral development have combined genetically informed research designs with careful measures of social relationships: parenting, sibling relationships, peer relationships, marital processes, social class stratifications and patterns of social engagement in the elderly. In what way have these genetically informed studies altered the construction and testing of social theories of human development? We consider five points where genetic thinking is taking hold. First, genetic findings suggest an alternative scenario for explaining social data. Associations between measures of the social environment and human development may be due to genes that influence both. Second, genetic studies add to other prompts to study the early developmental origins of current social phenomena in mid-life and beyond. Third, genetic analyses promise to bring to the surface understudied social systems, such as sibling relationships, that have an impact on human development independent of genotype. Fourth, genetic analyses anchor in neurobiology individual differences in resilience and sensitivity to both adverse and favorable social environments. Finally, genetic analyses increase the utility of laboratory simulations of human social processes and of animal models. PMID:25419225

  19. Clusters of Concepts in Molecular Genetics: A Study of Swedish Upper Secondary Science Students' Understanding

    ERIC Educational Resources Information Center

    Gericke, Niklas; Wahlberg, Sara

    2013-01-01

    To understand genetics, students need to be able to explain and draw connections between a large number of concepts. The purpose of the study reported herein was to explore the way upper secondary science students reason about concepts in molecular genetics in order to understand protein synthesis. Data were collected by group interviews. Concept…

  20. Are Endophenotypes Based on Measures of Executive Functions Useful for Molecular Genetic Studies of ADHD?

    ERIC Educational Resources Information Center

    Doyle, Alysa E.; Faraone, Stephen V.; Seidman, Larry J.; Willcutt, Erik G.; Nigg, Joel T.; Waldman, Irwin D.; Pennington, Bruce F.; Peart, Joanne; Biederman, Joseph

    2005-01-01

    Background: Behavioral genetic studies provide strong evidence that attention-deficit/hyperactivity disorder (ADHD) has a substantial genetic component. Yet, due to the complexity of the ADHD phenotype, questions remain as to the specific genes that contribute to this condition as well as the pathways from genes to behavior. Endophenotypes, or…

  1. Exposing college students to exercise: the training interventions and genetics of exercise response (TIGER) study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The Training Interventions and Genetics of Exercise Response (TIGER) study is an exercise program designed to introduce sedentary college students to regular physical activity and to identify genetic factors that influence response to exercise. A multiracial/ethnic cohort (N = 1,567; 39% male), age ...

  2. Examining Genetic and Environmental Effects on Social Aggression: A Study of 6-Year-Old Twins

    ERIC Educational Resources Information Center

    Brendgen, Mara; Dionne, Ginette; Girard, Alain; Boivin, Michel; Vitaro, Frank; Prusse, Daniel

    2005-01-01

    Using a genetic design of 234 six-year-old twins, this study examined (a) the contribution of genes and environment to social versus physical aggression, and (b) whether the correlation between social and physical aggression can be explained by similar genetic or environmental factors or by a directional link between the phenotypes. For social…

  3. Genetic analysis of metabolic polymorphisms in molecular epidemiological studies: social and ethical implications.

    PubMed

    Hainaut, P; Vähäkangas, K

    1999-01-01

    The use of genetic biomarkers in epidemiological studies raises specific social and ethical issues related to the selection of molecular markers and methods of analysis, obtaining participation, the storage of biological samples and their linkage with individual data, the disclosure of information and the publication of results. Several of these issues are similar to those associated with the use of any type of biomarker in epidemiology. Other problems are specifically related to the use of genetic material and the perception that genetic information raises special concerns regarding privacy, risk of abuse and psychosocial impact in this chapter we define how genetic studies performed in the context of molecular epidemiological studies (genetic analysis) differ from genetic screening or genetic testing conducted in a clinical or public health context We then examine the ethical implications of this distinction and describe how general ethical principles may apply to genetic analysis in the area of molecular epidemiology. In particular we discuss specific questions such as those of obtaining participation, working with archival samples and communicating results. We advocate an approach whereby ethical issues are tackled as an intrinsic part of study design; this requires broad discussion with all the parties involved.

  4. [Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].

    PubMed

    Olivares, J L; Hernández, M C; Bueno, M

    1986-09-01

    Osteogenesis imperfecta one of the most common disorders of connective tissue, has been known for centuries. The most characteristic alterations which define it are: osteoporosis, osseous fragility with multiple fractures, blue sclerae, deafness and imperfect dentinogenesis. Important advances in the biochemical, anatomopathological, genetic, therapeutic and prophylactic fields have resulted in a great present-day interest in this disease. In this work we report six cases of osteogenesis imperfecta according to the current classification and we review the most outstanding aspects. PMID:3789548

  5. Progress in Genetic Studies of Pain and Analgesia

    PubMed Central

    LaCroix-Fralish, Michael L.

    2009-01-01

    Interindividual variability in pain sensitivity and the response to analgesic manipulations remains a considerable clinical challenge as well as an area of intense scientific investigation. Techniques in this field have matured rapidly so that much relevant data have emerged only in the past few years. Our increasing understanding of the genetic mediation of these biological phenomena have nonetheless revealed their surprising complexity. This review provides a comprehensive picture and critical analysis of the field and its prospects. PMID:18834308

  6. Human genetic studies in areas of high natural radiation. VIII. Genetic load not related to radiation.

    PubMed Central

    Freire-Maia, A; Krieger, H

    1975-01-01

    The genetic load disclosed by inbreeding has been analyzed in a multiple regression model for a population involving several localities in the state of Espírito Santo, Brazil. The inbreeding load has been estimated for number of pregnancies, abortions, stillbirths, children born alive, anomalies in general, sex ratio, infant mortality, post-infant mortality, and sterility and infertility of the couple. There was no evidence of either maternal or paternal inbreeding effects on the variables analyzed. The effect of inbreeding of the zygote was significant only for anomalies in general (B = 2.29 +/- 0.45) and infant mortality (B = 3.19 +/- 1.39). The latter result must be accepted with caution because of the many environmental causes affecting infant mortality. The B/A ratio suggested a predominantly mutational load for anomalies in general (B/A = 25), but with respect to infant mortality (B/A = 6), the ratio is regarded as an underestimate because of the environmental contribution to A and therefore not supportive of the segregational interpretation. PMID:803018

  7. [A comparative study on genetic polymorphism and genetic relationship of 13 SNPs in three Chinese populations].

    PubMed

    Wang, Rui-Heng; Liu, Li-Min; Zhao, Jin-Ling

    2009-03-01

    Using the fluorescence labeled capillary electrophoresis of multi-PCR technique, the single nucleotide polymorphism (SNP) typing system of fragment length discrepant allele specific fluorescence labeled multi-PCR technique is established based on the principle of allele-specific PCR. The typing of the 13 SNP loci can be completed simultaneously according to the length of PCR products and the number of product peaks. It appears a single product peak when the SNP is homozygous, and two product peaks with 4 bp differences will appear when it is heterozygous. By using this system, we conducted population census about allele frequencies for 13 autosomal SNP loci in Southern Liaoning Han samples, Mongolian samples in Inner Mongolia and Zhuang samples in Guangxi area, and got the allele frequencies of the 13 SNP loci in the three populations, then preliminarily discussed their genetic relationship by comparing their differences in allelic polymorphism. The results indicate that the allelic distributions of the 13 SNP loci in the three populations are polymorphic, and the difference is significant in some SNP loci (P< or =0.01). The sampling survey shows that the result is consistent with Hardy-Weinberg equilibrium, and Han population in southern Liaoning has relatively closer relationship with Mongolian in Inner Mongolia than with Zhuang population in Guangxi by origin. PMID:19273440

  8. Great bustard population structure in central Spain: concordant results from genetic analysis and dispersal study.

    PubMed

    Martín, Carlos A; Alonso, Juan C; Alonso, Javier; Pitra, Christian; Lieckfeldt, Dietmar

    2002-01-22

    We found significant sex differences in the mtDNA genetic structure and dispersal patterns of great bustards in a population of 11 breeding groups, "leks", in central Spain. The analysis of genetic distances showed that the female population was divided into three groups of leks separated by ca. 50 km, whereas male haplotypes were randomly distributed among leks. Genetic distances among pairs of leks were positively correlated with geographical distances in females but not in males. While female haplotype distributions were homogeneous among leks at close distances, differences in male genetic structure were highly variable even between two close leks. These results from genetic analyses were concordant with those from a radiotracking study on natal dispersal. Natal dispersal distances were higher in males than in females. Also, the frequency of movement of a female between two leks was positively correlated with their genetic affinity and geographical proximity. In males, the frequency of movement was correlated with geographical proximity but not with genetic affinity. Males dispersed among genetically unrelated leks, contributing to keep nuclear genetic diversity in the population, whereas females tended to be philopatric. These results suggest that isolation-by-distance influences the distribution of maternal lineages at a regional level. PMID:11798426

  9. Great bustard population structure in central Spain: concordant results from genetic analysis and dispersal study.

    PubMed

    Martín, Carlos A; Alonso, Juan C; Alonso, Javier; Pitra, Christian; Lieckfeldt, Dietmar

    2002-01-22

    We found significant sex differences in the mtDNA genetic structure and dispersal patterns of great bustards in a population of 11 breeding groups, "leks", in central Spain. The analysis of genetic distances showed that the female population was divided into three groups of leks separated by ca. 50 km, whereas male haplotypes were randomly distributed among leks. Genetic distances among pairs of leks were positively correlated with geographical distances in females but not in males. While female haplotype distributions were homogeneous among leks at close distances, differences in male genetic structure were highly variable even between two close leks. These results from genetic analyses were concordant with those from a radiotracking study on natal dispersal. Natal dispersal distances were higher in males than in females. Also, the frequency of movement of a female between two leks was positively correlated with their genetic affinity and geographical proximity. In males, the frequency of movement was correlated with geographical proximity but not with genetic affinity. Males dispersed among genetically unrelated leks, contributing to keep nuclear genetic diversity in the population, whereas females tended to be philopatric. These results suggest that isolation-by-distance influences the distribution of maternal lineages at a regional level.

  10. Reporting genetic results in research studies: summary and recommendations of an NHLBI working group.

    PubMed

    Bookman, Ebony B; Langehorne, Aleisha A; Eckfeldt, John H; Glass, Kathleen C; Jarvik, Gail P; Klag, Michael; Koski, Greg; Motulsky, Arno; Wilfond, Benjamin; Manolio, Teri A; Fabsitz, Richard R; Luepker, Russell V

    2006-05-15

    Prospective epidemiologic studies aid in identifying genetic variants associated with diseases, health risks, and physiologic traits. These genetic variants may eventually be measured clinically for purposes of diagnosis, prognosis, and treatment. As evidence of the potential clinical value of such information accrues, research studies face growing pressure to report these results to study participants or their physicians, even before sufficient evidence is available to support widespread screening of asymptomatic persons. There is thus a need to begin to develop consensus on whether and when genetic findings should be reported to participants in research studies. The National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group on Reporting Genetic Results in Research Studies to discuss if, when, and how genetic information should be reported to study participants. The Working Group concluded that genetic test results should be reported to study participants when the associated risk for the disease is significant; the disease has important health implications such as premature death or substantial morbidity or has significant reproductive implications; and proven therapeutic or preventive interventions are available. Finally, the Working Group recommended procedures for reporting genetic research results and encouraged increased efforts to create uniform guidelines for this activity.

  11. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

    PubMed

    Laino, Luigi; Majore, Silvia; Preziosi, Nicoletta; Grammatico, Barbara; De Bernardo, Carmelilia; Scommegna, Salvatore; Rapone, Anna Maria; Marrocco, Giacinto; Bottillo, Irene; Grammatico, Paola

    2014-12-01

    Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient.

  12. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

    PubMed Central

    Laino, Luigi; Majore, Silvia; Preziosi, Nicoletta; Grammatico, Barbara; De Bernardo, Carmelilia; Scommegna, Salvatore; Rapone, Anna Maria; Marrocco, Giacinto; Bottillo, Irene; Grammatico, Paola

    2014-01-01

    Sex development is a process under genetic control directing both the bi-potential gonads to become either a testis or an ovary, and the consequent differentiation of internal ducts and external genitalia. This complex series of events can be altered by a large number of genetic and non-genetic factors. Disorders of sex development (DSD) are all the medical conditions characterized by an atypical chromosomal, gonadal, or phenotypical sex. Incomplete knowledge of the genetic mechanisms involved in sex development results in a low probability of determining the molecular definition of the genetic defect in many of the patients. In this study, we describe the clinical, cytogenetic, and molecular study of 88 cases with DSD, including 29 patients with 46,XY and disorders in androgen synthesis or action, 18 with 46,XX and disorders in androgen excess, 17 with 46,XY and disorders of gonadal (testicular) development, 11 classified as 46,XX other, eight with 46,XX and disorders of gonadal (ovarian) development, and five with sex chromosome anomalies. In total, we found a genetic variant in 56 out of 88 of them, leading to the clinical classification of every patient, and we outline the different steps required for a coherent genetic testing approach. In conclusion, our results highlight the fact that each category of DSD is related to a large number of different DNA alterations, thus requiring multiple genetic studies to achieve a precise etiological diagnosis for each patient. PMID:25248670

  13. Genetic causes of intellectual disability in a birth cohort: A population‐based study

    PubMed Central

    Riegel, Mariluce; Segal, Sandra L.; Félix, Têmis M.; Barros, Aluísio J. D.; Santos, Iná S.; Matijasevich, Alicia; Giugliani, Roberto; Black, Maureen

    2015-01-01

    Intellectual disability affects approximately 1–3% of the population and can be caused by genetic and environmental factors. Although many studies have investigated the etiology of intellectual disability in different populations, few studies have been performed in middle‐income countries. The present study estimated the prevalence of genetic causes related to intellectual disability in a cohort of children from a city in south Brazil who were followed from birth. Children who showed poor performance in development and intelligence tests at the ages of 2 and 4 were included. Out of 4,231 liveborns enrolled in the cohort, 214 children fulfilled the inclusion criteria. A diagnosis was established in approximately 90% of the children evaluated. Genetic causes were determined in 31 of the children and 19 cases remained unexplained even after extensive investigation. The overall prevalence of intellectual disability in this cohort due to genetic causes was 0.82%. Because this study was nested in a cohort, there were a large number of variables related to early childhood and the likelihood of information bias was minimized by collecting information with a short recall time. This study was not influenced by selection bias, allowing identification of intellectual disability and estimation of the prevalence of genetic causes in this population, thereby increasing the possibility of providing appropriate management and/or genetic counseling. © 2015 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. PMID:25728503

  14. Human genetics studies: the case for group rights.

    PubMed

    Underkuffler, Laura S

    2007-01-01

    In this essay, the author focuses on an underlying theoretical issue which she believes seriously affects our collective response to the idea of group rights in the genetic-control context. That issue is to what extent are our responses to claims of group rights hampered by our bringing to the table (consciously or unconsciously) a model which is structured to acknowledge only individual concerns? Put another way, to what extent are our objections to group rights in this context a product of our inability (or refusal) to imagine the idea of group rights, rather than the product of truly substantive concerns?

  15. Parameterization of interatomic potential by genetic algorithms: A case study

    SciTech Connect

    Ghosh, Partha S. Arya, A.; Dey, G. K.; Ranawat, Y. S.

    2015-06-24

    A framework for Genetic Algorithm based methodology is developed to systematically obtain and optimize parameters for interatomic force field functions for MD simulations by fitting to a reference data base. This methodology is applied to the fitting of ThO{sub 2} (CaF{sub 2} prototype) – a representative of ceramic based potential fuel for nuclear applications. The resulting GA optimized parameterization of ThO{sub 2} is able to capture basic structural, mechanical, thermo-physical properties and also describes defect structures within the permissible range.

  16. Ensuring privacy in the study of pathogen genetics.

    PubMed

    Mehta, Sanjay R; Vinterbo, Staal A; Little, Susan J

    2014-08-01

    Rapid growth in the genetic sequencing of pathogens in recent years has led to the creation of large sequence databases. This aggregated sequence data can be very useful for tracking and predicting epidemics of infectious diseases. However, the balance between the potential public health benefit and the risk to personal privacy for individuals whose genetic data (personal or pathogen) are included in such work has been difficult to delineate, because neither the true benefit nor the actual risk to participants has been adequately defined. Existing approaches to minimise the risk of privacy loss to participants are based on de-identification of data by removal of a predefined set of identifiers. These approaches neither guarantee privacy nor protect the usefulness of the data. We propose a new approach to privacy protection that will quantify the risk to participants, while still maximising the usefulness of the data to researchers. This emerging standard in privacy protection and disclosure control, which is known as differential privacy, uses a process-driven rather than data-centred approach to protecting privacy.

  17. Internet solicitation of research subjects for genetic studies

    SciTech Connect

    Biesecker, L.G.; DeRenzo, E.G.

    1995-11-01

    Communication through electronic messages on the Internet has become a rapid and effective method for exchanging ideas and information in many disciplines. The Human Molecular Genetics network Diagnostics and Clinical Research Section (hum-molgen@nic.surfnet.nl) is now serving this function for the field of human molecular genetics. Our attention was drawn to the power and the pitfalls of this information exchange when we read a solicitation for research subjects by a Canadian medical student. The student was initiating a summer research project on an inherited disorder and requested information to determine the frequency of the disorder and to collect blood samples of affected patients. The student also requested samples of stored blood or DNA of affected persons. On other occasions, the hum-mol-gen service has also been used by clinicians to announce the availability of patients with a particular disorder (or their blood samples) who are interested in participating in research projects. Such uses of the Internet can serve to facilitate communication between researchers and clinicians and enhance clinical research. We believe, however, that some guidelines are necessary to protect human subjects. Investigators in the United States who are subject to U.S. Federal Government human subjects research regulations, or who are attached to an institution conducting such research, should consider some important issues before placing or responding to a request on the Internet. 1 ref.

  18. Concentration, composition and sources of PAHs in the coastal sediments of the exclusive economic zone (EEZ) of Qatar, Arabian Gulf.

    PubMed

    Soliman, Y S; Al Ansari, E M S; Wade, T L

    2014-08-30

    Surface sediments were collected from sixteen locations in order to assess levels and sources of polycyclic aromatic hydrocarbons (PAHs) in sediments of Qatar exclusive economic zone (EEZ). Samples were analyzed for 16 parent PAHs, 18 alkyl homologs and for dibenzothiophenes. Total PAHs concentration (∑PAHs) ranged from 2.6 ng g(-1) to 1025 ng g(-1). The highest PAHs concentrations were in sediments in and adjacent to harbors. Alkylated PAHs predominated most of the sampling locations reaching up to 80% in offshore locations. Parent PAHs and parent high molecular weight PAHs dominated location adjacent to industrial activities and urban areas. The origin of PAHs sources to the sediments was elucidated using ternary plot, indices, and molecular ratios of specific compounds such as (Ant/Phe+Ant), (Flt/Flt+Pyr). PAHs inputs to most coastal sites consisted of mixture of petroleum and combustion derived sources. However, inputs to the offshore sediments were mainly of petroleum origin. PMID:24798421

  19. A quantitative sensitivity analysis on the behaviour of common thermal indices under hot and windy conditions in Doha, Qatar

    NASA Astrophysics Data System (ADS)

    Fröhlich, Dominik; Matzarakis, Andreas

    2016-04-01

    Human thermal perception is best described through thermal indices. The most popular thermal indices applied in human bioclimatology are the perceived temperature (PT), the Universal Thermal Climate Index (UTCI), and the physiologically equivalent temperature (PET). They are analysed focusing on their sensitivity to single meteorological input parameters under the hot and windy meteorological conditions observed in Doha, Qatar. It can be noted, that the results for the three indices are distributed quite differently. Furthermore, they respond quite differently to modifications in the input conditions. All of them show particular limitations and shortcomings that have to be considered and discussed. While the results for PT are unevenly distributed, UTCI shows limitations concerning the input data accepted. PET seems to respond insufficiently to changes in vapour pressure. The indices should therefore be improved to be valid for several kinds of climates.

  20. A behavioral genetic study of the dark triad of personality and moral development.

    PubMed

    Campbell, Jennifer; Schermer, Julie Aitken; Villani, Vanessa C; Nguyen, Brenda; Vickers, Leanne; Vernon, Philip A

    2009-04-01

    The present study is the first behavioral genetic investigation of relationships between the Dark Triad of personality--Machiavellianism, narcissism, and subclinical psychopathy--and moral development. Participants were 154 monozygotic twin pairs and 82 same-sex dizygotic twin pairs. Higher scores on Machiavellianism and psychopathy were positively correlated with low levels of moral development; high psychopathy scores also correlated negatively with high levels of moral development. Individual differences in lower levels of moral development were attributable to genetic and nonshared environmental factors but, very interestingly, individual differences in the highest levels of moral development showed no genetic basis but were entirely attributable to shared and nonshared environmental factors. Finally, correlations between the Dark Triad and moral development variables showed no genetic basis while correlations among the moral development variables were variously attributable to correlated genetic and correlated environmental factors.

  1. Genetic mouse models to study blood–brain barrier development and function

    PubMed Central

    2013-01-01

    The blood–brain barrier (BBB) is a complex physiological structure formed by the blood vessels of the central nervous system (CNS) that tightly regulates the movement of substances between the blood and the neural tissue. Recently, the generation and analysis of different genetic mouse models has allowed for greater understanding of BBB development, how the barrier is regulated during health, and its response to disease. Here we discuss: 1) Genetic mouse models that have been used to study the BBB, 2) Available mouse genetic tools that can aid in the study of the BBB, and 3) Potential tools that if generated could greatly aid in our understanding of the BBB. PMID:23305182

  2. Exploring the Impact on Students of Western Universities on Foreign Soil: A Case Study of Qatar

    ERIC Educational Resources Information Center

    Bakken, Richard

    2013-01-01

    The development of branch campuses in higher education is not a new phenomenon. Over the past decades, however, branch campuses have expanded throughout the world as Western universities have begun to deliver their programs and course offerings in countries that expect the West to provide educational (and, by implication, economic) success. Middle…

  3. Challenges to conservation: land use change and local participation in the Al Reem Biosphere Reserve, West Qatar

    PubMed Central

    2010-01-01

    One response to humanity's unsustainable use of natural resources and consequent degradation, even destruction of the environment, is to establish conservation areas to protect Nature and preserve biodiversity at least in selected regions. In Qatar, the government has shown strong support for this approach, confronted by the environmental consequences of oil and gas extraction and rapid urban development, by designating about one-tenth of the country a conservation area. Located in the west of the peninsula, it comprises the Al Reem Reserve, subsequently declared a UNESCO Biosphere Reserve. Several approaches have figured in conservation, currently popular is co-management featuring participation of the local population, which recognises that people's activities often contribute to today's environment, with the promotion of bio-cultural diversity. However, these assumptions may not hold where rapid social and cultural change occurs, as in Qatar. We explore the implications of such change, notably in land use. We detail changes resulting with the move from nomadic to sedentary lifestyles: in land access, which now features tribal-state control, and herding strategies, which now feature migrant labour and depend on imported fodder and water, underwritten by the country's large gas and oil revenues. Current stocking arrangements - animals herded in much smaller areas than previously - are thought responsible for the degradation of natural resources. The place of animals, notably camels, in Qatari life, has also changed greatly, possibly further promoting overstocking. Many local people disagree. What are the implications of such changes for the participatory co-management of conservation areas? Do they imply turning the clock back to centrally managed approaches that seek to control access and local activities? PMID:20964818

  4. Incorporating Hardy-Weinberg Equilibrium Law to Enhance the Association Strength for Ordinal Trait Genetic Study.

    PubMed

    Zhang, Wei; Li, Qizhai

    2016-03-01

    The conventional method to examine whether genetic variants are associated with the ordinal traits is the proportional odds model. Such analyses are often conducted by assuming an additive genetic mode of inheritance. However, how the genetic variants influence the risk of occurrence of a disease is impossible to know in practice. Using an improper model might result in a low-power test, thus it reduces the probability of detecting the deleterious genetic markers. To address these concerns, we propose a two-phase procedure (TPP) for ordinal trait genetic studies. In the first phase, we used a linear combination to weight the Hardy-Weinberg equilibrium tests in case groups and formed an omnibus test to classify the genetic models. Then based on the chosen model, the corresponding score test was used to identify the associations. To control the false positive rate, we derived the joint distribution of the test used for selecting the genetic model and that used for identifying the associations. We also obtained the closed forms of two other robust tests, MAX3 and CHI2. Extensive computer simulations were carried out and the results showed that the true selection rates of genetic models are satisfactory and the proposed TPP is more robust than MAX3 and CHI2. Finally, we demonstrated the advantage of our proposed method by applying it to analyse the antibody reactivity to cyclic citrullinated peptides data.

  5. Incorporating Hardy-Weinberg Equilibrium Law to Enhance the Association Strength for Ordinal Trait Genetic Study.

    PubMed

    Zhang, Wei; Li, Qizhai

    2016-03-01

    The conventional method to examine whether genetic variants are associated with the ordinal traits is the proportional odds model. Such analyses are often conducted by assuming an additive genetic mode of inheritance. However, how the genetic variants influence the risk of occurrence of a disease is impossible to know in practice. Using an improper model might result in a low-power test, thus it reduces the probability of detecting the deleterious genetic markers. To address these concerns, we propose a two-phase procedure (TPP) for ordinal trait genetic studies. In the first phase, we used a linear combination to weight the Hardy-Weinberg equilibrium tests in case groups and formed an omnibus test to classify the genetic models. Then based on the chosen model, the corresponding score test was used to identify the associations. To control the false positive rate, we derived the joint distribution of the test used for selecting the genetic model and that used for identifying the associations. We also obtained the closed forms of two other robust tests, MAX3 and CHI2. Extensive computer simulations were carried out and the results showed that the true selection rates of genetic models are satisfactory and the proposed TPP is more robust than MAX3 and CHI2. Finally, we demonstrated the advantage of our proposed method by applying it to analyse the antibody reactivity to cyclic citrullinated peptides data. PMID:26626859

  6. Genetic Association Studies in Uterine Fibroids: Risk Alleles Presage the Path to Personalized Therapies.

    PubMed

    Gallagher, C Scott; Morton, Cynthia C

    2016-07-01

    Uterine leiomyoma (UL) is the most common tumor of the female reproductive system. Epidemiological analyses, including familial aggregation, twin studies, and racial discrepancies in disease prevalence and morbidity, indicated genetic factors influence risk for developing UL. Genome-wide association studies (GWASs) are a powerful method for identifying genetic variants that are associated with elevated risk for a common, complex disease. To date, three genome-wide scans for UL have been performed: a GWAS in Japanese women, a genome-wide linkage and association study in women of European decent, and an admixture-based analysis in African American women. Results from each of the three genome-wide scans performed have had varying success in identifying unique loci associated with predisposition to developing UL. Here, we address the evidence for a genetic basis for UL risk, discuss genetic association studies and their results, and identify challenges and future directions for UL GWAS analyses. PMID:27513025

  7. A molecular-genetic approach to studying source-sink interactions in Arabidopsis thalian. Final report

    SciTech Connect

    Gibson, S. I.

    2000-06-01

    This is a final report describing the results of the research funded by the DOE Energy Biosciences Program grant entitled ''A Molecular-Genetic Approach to Studying Source-Sink Interactions in Arabidiopsis thaliana''.

  8. Approaches to Investigating Complex Genetic Traits in a Large-Scale Inbred Mouse Aging Study.

    PubMed

    Sundberg, J P; Berndt, A; Sundberg, B A; Silva, K A; Kennedy, V; Smith, R S; Cooper, T K; Schofield, P N

    2016-03-01

    Inbred mice are a unique model system for studying aging because of the genetic homogeneity within inbred strains, the short life span of mice relative to humans, and the rich array of analytic tools that are available. A large-scale aging study was conducted on 28 inbred strains representing great genetic diversity to determine, via histopathology, the type and diversity of spontaneous diseases that aging mice develop. A total of 20 885 different diagnoses were made, with an average of 12 diagnoses per mouse in the study. Eighteen inbred strains have had their genomes sequenced, and many others have been partially sequenced to provide large repositories of data on genetic variation among the strains. This vast amount of genomic information can be utilized in genome-wide association studies to find candidate genes that are involved in the pathogenesis of spontaneous diseases. As an illustration, this article presents a genome-wide association study of the genetic associations of age-related intestinal amyloidosis, which implicated 3 candidate genes: translocating chain-associated membrane protein 1 (Tram1); splicing factor 3b, subunit 5 (Sf3b5); and syntaxin 11 (Stx11). Representative photomicrographs are available on the Mouse Tumor Biology Database and Pathbase to serve as a reference when evaluating inbred mice used in other genetic or experimental studies to rule out strain background lesions. Many of the age-related mouse diseases are similar, if not identical, to human diseases; therefore, the genetic discoveries have direct translational benefit. PMID:26936752

  9. Genetic susceptibility to male infertility: news from genome-wide association studies.

    PubMed

    Aston, K I

    2014-05-01

    A thorough understanding of the genetic basis of male infertility has eluded researchers in spite of significant efforts to identify novel genetic causes of the disease, particularly over the past decade. Approximately half of male factor infertility cases have no known cause; however, it is likely that the majority of idiopathic male factor infertility cases have some unidentified genetic basis. Well-established genetic causes of male infertility are limited to Y chromosome microdeletions and Klinefelter's syndrome, together accounting for 10-20% of cases of severe spermatogenic failure. In addition to these, several genetic polymorphisms have been demonstrated to be significantly associated with male infertility. The discovery of new genetic associations with male infertility has been hampered by two primary factors. First, most studies are underpowered because of insufficient sample size and ethnic and phenotypic heterogeneity. Second, most studies evaluate a single gene, an approach that is very inefficient in the context of male infertility, considering that many hundreds of genes are involved in the process of testicular development and spermatogenesis. Significant recent advances in microarray and next-generation sequencing technologies have enabled the application of whole-genome approaches to the study of male infertility. We recently performed a pilot genome-wide association study (GWAS) for severe spermatogenic failure, and several additional male infertility GWAS have since been published. More recently, genomic microarray tools have been applied to the association of copy number variants with male infertility. These studies are beginning to shed additional light on the genetic architecture of male infertility, and whole-genome studies have proven effective in identifying novel genetic causes of the disease. This review will discuss some of the recent findings of these whole-genome studies as well as future directions for this research that will likely

  10. Effect of sociocultural cleavage on genetic differentiation: a study from North India.

    PubMed

    Khan, Faisal; Pandey, Atul Kumar; Borkar, Meenal; Tripathi, Manorma; Talwar, Sudha; Bisen, P S; Agrawal, Suraksha

    2008-06-01

    Indian populations possess an exclusive genetic profile primarily due to the many migratory events, which caused an extensive range of genetic diversity, and also due to stringent and austere sociocultural barriers that structure these populations into different endogamous groups. In the present study we attempt to explore the genetic relationships between various endogamous North Indian populations and to determine the effect of stringent social regulations on their gene pool. Twenty STR markers were genotyped in 1,800 random North Indians from 9 endogamous populations belonging to upper-caste and middle-caste Hindus and Muslims. All nine populations had high allelic diversity (176 alleles) and average observed heterozygosity (0.742 +/- 0.06), suggesting strong intrapopulation diversity. The average F(ST) value over all loci was as low as 0.0084. However, within-group F(ST) and genetic distance analysis showed that populations of the same group were genetically closer to each other. The genetic distance of Muslims from middle castes (F(ST) = 0.0090; DA = 0.0266) was significantly higher than that of Muslims from upper castes (F(ST) = 0.0050; DA = 0.0148). Phylogenetic trees (neighbor-joining and maximum-likelihood) show the basal cluster pattern of three clusters corresponding to Muslims, upper-caste, and middle-caste populations, with Muslims clustered with upper-caste populations. Based on the results, we conclude that the extensive gene flow through a series of migrations and invasions has created an enormous amount of genetic diversity. The interpopulation differences are minimal but have a definite pattern, in which populations of different socioreligious groups have more genetic similarity within the same group and are genetically more distant from populations of other groups. Finally, North Indian Muslims show a differential genetic relationship with upper- and middle-caste populations. PMID:19130797

  11. Genetic factors in evolution of sleep length--a longitudinal twin study in Finnish adults.

    PubMed

    Hublin, Christer; Partinen, Markku; Koskenvuo, Markku; Kaprio, Jaakko

    2013-10-01

    Genetic factors affect many aspects of sleep, such as sleep length. We investigated the contribution of genetic factors to stability and change of sleep length among adults over a 15-year period. In this representative follow-up study we used the Finnish Twin Cohort as the study population. Questionnaire surveys were performed in 1975 (response rate 89%, 11,041 twin pairs; age ≥18 years), 1981 (84%, 9323; ≥24 years) and 1990 (77%, 4507; 33-60 years). Sleep was categorized as short (<7 h), average or long (>8 h). Pairwise similarity in monozygotic and dizygotic pairs was examined at each survey by age group and sex. Quantitative genetic modelling was used to estimate cross-sectional and longitudinal genetic effects. The proportion of variance in sleep length at one point in time that was accounted for by genetic effects was very stable over the study period, being 0.31 in 1975, 0.32 in 1981 and 0.30 in 1990. Longitudinal genetic modelling indicated that the correlations of genetic effects between the three measurement points were high: 0.85 between 1975 and 1981; 0.93 between 1981 and 1990; and 0.76 between 1975 and 1990. Despite a high contribution of environmental effects, their correlations over time were modest: 0.31 between 1975 and 1981; 0.33 between 1981 and 1990; and 0.18 between 1975 and 1990. In conclusion, genetic factors have a modest but stable effect on the evolution of sleep length over a long time span in adults. Multiple measures are a more robust basis for genetic analyses than a single cross-sectional measure. PMID:23509990

  12. Detecting Genetic Isolation in Human Populations: A Study of European Language Minorities

    PubMed Central

    Capocasa, Marco; Battaggia, Cinzia; Anagnostou, Paolo; Montinaro, Francesco; Boschi, Ilaria; Ferri, Gianmarco; Alù, Milena; Coia, Valentina; Crivellaro, Federica; Bisol, Giovanni Destro

    2013-01-01

    The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a Bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four “linguistic islands” of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations. PMID:23418562

  13. Detecting genetic isolation in human populations: a study of European language minorities.

    PubMed

    Capocasa, Marco; Battaggia, Cinzia; Anagnostou, Paolo; Montinaro, Francesco; Boschi, Ilaria; Ferri, Gianmarco; Alù, Milena; Coia, Valentina; Crivellaro, Federica; Destro Bisol, Giovanni

    2013-01-01

    The identification of isolation signatures is fundamental to better understand the genetic structure of human populations and to test the relations between cultural factors and genetic variation. However, with current approaches, it is not possible to distinguish between the consequences of long-term isolation and the effects of reduced sample size, selection and differential gene flow. To overcome these limitations, we have integrated the analysis of classical genetic diversity measures with a bayesian method to estimate gene flow and have carried out simulations based on the coalescent. Combining these approaches, we first tested whether the relatively short history of cultural and geographical isolation of four "linguistic islands" of the Eastern Alps (Lessinia, Sauris, Sappada and Timau) had left detectable signatures in their genetic structure. We then compared our findings to previous studies of European population isolates. Finally, we explored the importance of demographic and cultural factors in shaping genetic diversity among the groups under study. A combination of small initial effective size and continued genetic isolation from surrounding populations seems to provide a coherent explanation for the diversity observed among Sauris, Sappada and Timau, which was found to be substantially greater than in other groups of European isolated populations. Simulations of micro-evolutionary scenarios indicate that ethnicity might have been important in increasing genetic diversity among these culturally related and spatially close populations.

  14. Cancer genetic susceptibility testing: ethical and policy implications for future research and clinical practice. Cancer Genetic Studies Consortium, National Institutes of Health.

    PubMed

    Wilfond, B S; Rothenberg, K H; Thomson, E J; Lerman, C

    1997-01-01

    Authors examine the ethical and health policy implications in the Cancer Genetic Studies Consortium projects, which attempt to collect data on the clinical benefits and harms of cancer genetic testing. They suggest that more data are needed on the long-term physical and psychosocial effects of testing and that further examination is needed of the ethical issues raised by testing.

  15. Public culture and public understanding of genetics: a focus group study.

    PubMed

    Bates, Benjamin R

    2005-01-01

    As the role of genetic science in everyday life has grown, policymakers have become concerned about Americans' understandings of this science. Much effort has been devoted to formal schooling, but less attention has been paid to the role of public culture in shaping public understanding of genetics. Research into public cultural messages about genetics has claimed that the public is likely to adopt problematic accounts, but few studies have explored the public's articulation of these messages. This study is based on 25 focus groups convened to explore the lay public's understanding of genetics. The study found that the public processed a greater variety of messages than assumed by previous researchers, including documentaries, non-science-fiction films, and popular television in addition to previous researchers' focus on science fiction and news media. The study also found that the public does not process the messages through the linear, transmission model assumed by previous research. The public processes messages about genetics complexly and critically. On the basis of these findings, the study suggests that researchers should include a greater variety of texts about genetics in their research and attend more fully to audience processing in addition to content analyses of these texts. PMID:15822248

  16. Inclusion of African Americans in genetic studies: what is the barrier?

    PubMed

    Hartz, Sarah M; Johnson, Eric O; Saccone, Nancy L; Hatsukami, Dorothy; Breslau, Naomi; Bierut, Laura J

    2011-08-01

    To facilitate an increase in the amount of data on minority subjects collected for genetic databases, the authors attempted to clarify barriers to African-American participation in genetic studies. They randomly sampled 78,072 subjects from the community (Missouri Family Registry, 2002-2007). Of these, 28,658 participated in a telephone screening interview, 3,179 were eligible to participate in the genetic study, and 1,919 participated in the genetic study. Response rates were examined in relation to the proportion of subjects in the area who were African-American according to US Census 2000 zip code demographic data. Compared with zip codes with fewer than 5% African Americans (average = 2% African-American), zip codes with at least 60% African Americans (average = 87% African-American) had higher proportions of subjects with an incorrect address or telephone number but lower proportions of subjects who did not answer the telephone and subjects who refused the telephone interview (P < 0.0001). Based on reported race from the telephone screening, 71% of eligible African Americans and 57% of eligible European Americans participated in the genetic study (P < 0.0001). The results of this study suggest that increasing the number of African Americans in genetic databases may be achieved by increasing efforts to locate and contact them.

  17. Genome-wide Association Studies from the Cancer Genetic Markers of Susceptibility (CGEMS) Initiative | Office of Cancer Genomics

    Cancer.gov

    CGEMS identifies common inherited genetic variations associated with a number of cancers, including breast and prostate. Data from these genome-wide association studies (GWAS) are available through the Division of Cancer Epidemiology & Genetics website.

  18. Genetic variation in strains of zebrafish (Danio rerio) and the implications for ecotoxicology studies.

    PubMed

    Coe, T S; Hamilton, P B; Griffiths, A M; Hodgson, D J; Wahab, M A; Tyler, C R

    2009-01-01

    There is substantial evidence that genetic variation, at both the level of the individual and population, has a significant effect on behaviour, fitness and response to toxicants. Using DNA microsatellites, we examined the genetic variation in samples of several commonly used laboratory strains of zebrafish, Danio rerio, a model species in toxicological studies. We compared the genetic variation to that found in a sample of wild fish from Bangladesh. Our findings show that the wild fish were significantly more variable than the laboratory strains for several measures of genetic variability, including allelic richness and expected heterozygosity. This lack of variation should be given due consideration for any study which attempts to extrapolate the results of ecotoxicological laboratory tests to wild populations.

  19. A behavioral genetic study of the overlap between personality and parenting.

    PubMed

    Spinath, Frank M; O'Connor, Thomas G

    2003-10-01

    The current study had three aims. The first was to examine the covariation between personality of parents and parenting behaviors. The second aim was to examine the genetic and environmental influences on parenting behaviors. The third aim was to examine the extent to which the association between personality and parenting was mediated by genetic and environmental factors. Personality (Five Factor Model, NEO-FFI) and parenting data were collected as part of a larger German study of 300 adult twin pairs (GOSAT). The current paper analyzes data on a subset of the 300 twin pairs from the GOSAT sample who were concordant for having children (n=98 pairs or 196 individuals). Results indicated modest overlap between personality and parenting. In addition, univariate behavioral genetic analyses indicated moderate genetic influence on select parenting dimensions. Results also indicated that the moderate phenotypic covariation between personality and parenting was attributed largely to nongenetic factors. Implications of the findings for research on parenting and personality are considered.

  20. Genetic and environmental influences on applied creativity: A reared-apart twin study

    PubMed Central

    Velázquez, Jaime A.; Segal, Nancy L.; Horwitz, Briana N.

    2015-01-01

    Applied creativity involves bringing innovation to real-life activities. The first reared-apart twin study assessing genetic and environmental origins of applied creativity, via Draw-a-House (DAH) and Draw-a-Person (DAP) tasks, is presented. Participants included 69 MZA and 53 DZA twin pairs from the Minnesota Study of Twins Reared Apart. Drawings were evaluated by four artists and four non-artists. Genetic effects were demonstrated for the DAP (.38–.47), but not for the DAH. Creative personality showed genetic effects (.50), and modest, but significant correlations with scores on the two drawings (rs = .17–.26). Both genetic and nonshared environmental influences underlie variance in applied creativity. Individuals concerned with enhancing creativity among students and others may better understand individual differences in performance and training. PMID:26366030

  1. Molecular genetic gene-environment studies using candidate genes in schizophrenia: a systematic review.

    PubMed

    Modinos, Gemma; Iyegbe, Conrad; Prata, Diana; Rivera, Margarita; Kempton, Matthew J; Valmaggia, Lucia R; Sham, Pak C; van Os, Jim; McGuire, Philip

    2013-11-01

    The relatively high heritability of schizophrenia suggests that genetic factors play an important role in the etiology of the disorder. On the other hand, a number of environmental factors significantly influence its incidence. As few direct genetic effects have been demonstrated, and there is considerable inter-individual heterogeneity in the response to the known environmental factors, interactions between genetic and environmental factors may be important in determining whether an individual develops the disorder. To date, a considerable number of studies of gene-environment interactions (G×E) in schizophrenia have employed a hypothesis-based molecular genetic approach using candidate genes, which have led to a range of different findings. This systematic review aims to summarize the results from molecular genetic candidate studies and to review challenges and opportunities of this approach in psychosis research. Finally, we discuss the potential of future prospects, such as new studies that combine hypothesis-based molecular genetic candidate approaches with agnostic genome-wide association studies in determining schizophrenia risk.

  2. Genetic linkage studies of the human glycosphingolipid beta-galactosidases.

    PubMed

    Rushton, A R; Dawson, G

    1977-12-01

    The genetic linkage relationships of the human glycosphingolipid beta-galactosidases were determined using human--mouse somatic cell hybrids. A new method was devised for the estimation of human galactosylceramide, lactosylceramide, and GMI-ganglioside beta-galactosidase activities in the presence of their mouse counterparts, which takes advantage of the reproducible specific activity of lysosomal hydrolases under a given set of culture conditions and is based on differences in both pH optima and sensitivity to chloride ion. Human and mouse chromosomes were identified by their characteristic banding patterns obtained after quinacrine staining, and the optimum glycolipid beta-galactosidase activity was determined for three different substrates. A ratio was defined for each activity which was the specific activity at the human pH optimum divided by the specific activity at the mouse pH optimum. Linear regression analysis was used to test for concordant segregation between pH ratios for each enzyme and the frequency of occurrence of different human chromosomes in the man--mouse somatic hybrid clones. The results obtained from two independent series of hybrid clones indicated that human beta-galactosidase activities consistently segregated with human chromosome 12 in these somatic cell hybrids.

  3. [Studies on the genetic susceptibility to dilated cardiomyopathy].

    PubMed

    Li, Y Y; Zhang, J N; Ma, W Z

    1993-01-01

    HLA-DQB1,-DRB1 genes of 27 Chinese patients with dilated cardiomyopathy (DCM), 7 high risk individuals in a DCM kindred and 17 normal control subjects were analysed with the use of restriction fragment length polymorphisms (RFLP) with full length DQB1 and DRB1 cDNA probes according to the standard and nomenclature of the Xth International Histocompatibility Workshop. The resulting restriction patterns allowed genotyping of HLA-DR and HLA-DQw. D-DQw8 frequency increased significantly in patients with DCM as compared with that of the controls (P < 0.05). D-DQw4 also increased in patients although no statistical significance was shown when Chi-square value was corrected with Yate's correction, whereas D-DQw5 overrepresented in controls (P < 0.05). Over half of the high risk individuals (4/7) in the familial DCM kindred carry D-DQw8 and D-DQw4. These results support the hypothesis that HLA class II genes were associated with an increased risk for DCM, HLA-DQB rather than -DRB may confer genetic susceptibility to DCM. PMID:8104770

  4. Genetic and Immunological Studies of Bacteriophage T4 Thymidylate Synthetase

    PubMed Central

    Krauss, S. W.; Stollar, B. D.; Friedkin, M.

    1973-01-01

    Thymidylate synthetase, which appears after infection of Escherichia coli with bacteriophage T4, has been partially purified. The phage enzyme is immunologically distinct from the host enzyme and has a molecular weight of 50,000 in comparison to 68,000 for the host enzyme. A system has been developed to characterize T4 td mutants previously known to have impaired expression of phage thymidylate synthetase. For this system, an E. coli host lacking thymidylate synthetase was isolated. Known genetic suppressors were transduced into this host. The resulting isogenic hosts were infected with phage T4 td mutants. The specific activities and amounts of cross-reacting material induced by several different types of phage mutants under conditions of suppression or non-suppression have been examined. The results show that the phage carries the structural gene specifying the thymidylate synthetase which appears after phage infection, and that the combination of plaque morphology, enzyme activity assays, and an assay for immunologically cross-reacting material provides a means for identifying true amber mutants of the phage gene. Images PMID:4575286

  5. Drosophila melanogaster as a genetic model system to study neurotransmitter transporters

    PubMed Central

    Martin, Ciara A.; Krantz, David E.

    2014-01-01

    The model genetic organism Drosophila melanogaster, commonly known as the fruit fly, uses many of the same neurotransmitters as mammals and very similar mechanisms of neurotransmitter storage, release and recycling. This system offers a variety of powerful molecular-genetic methods for the study of transporters, many of which would be difficult in mammalian models. We review here progress made using Drosophila to understand the function and regulation of neurotransmitter transporters and discuss future directions for its use. PMID:24704795

  6. Drosophila melanogaster as a genetic model system to study neurotransmitter transporters.

    PubMed

    Martin, Ciara A; Krantz, David E

    2014-07-01

    The model genetic organism Drosophila melanogaster, commonly known as the fruit fly, uses many of the same neurotransmitters as mammals and very similar mechanisms of neurotransmitter storage, release and recycling. This system offers a variety of powerful molecular-genetic methods for the study of transporters, many of which would be difficult in mammalian models. We review here progress made using Drosophila to understand the function and regulation of neurotransmitter transporters and discuss future directions for its use.

  7. Evolution of genetic diversity using networks: the human gut microbiome as a case study.

    PubMed

    Bapteste, E; Bicep, C; Lopez, P

    2012-07-01

    In order to study complex microbial communities and their associated mobile genetic elements, such as the human gut microbiome, evolutionists could explore their genetic diversity with shared sequence networks. In particular, the detection of remarkable structures in gene networks of the gut microbiome could serve to identify important functions within the community, and would ease comparison of data sets from microbiomes of various sources (human, ape, mouse etc.) in a single analysis.

  8. Autism and genetics: Clinical approach and association study with two markers of HRAS gene

    SciTech Connect

    Herault, J.; Petit, E.; Cherpi, C.

    1995-08-14

    Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3{prime} end of the coding region. In an attempt to confirm this finding, we studied a larger population, well-characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3{prime} marker used in the initial study and an additional marker in exon 1. 46 refs., 1 fig., 2 tabs.

  9. A simulation study of the genetic regulatory hierarchy for butterfly eyespot focus determination.

    PubMed

    Evans, Travis M; Marcus, Jeffrey M

    2006-01-01

    The color patterns on the wings of butterflies have been an important model system in evolutionary developmental biology. Two types of models have been used to study these patterns. The first type of model employs computational techniques and generalized mechanisms of pattern formation to make predictions about how color patterns will vary as parameters of the model are changed. These generalized mechanisms include diffusion gradient, reaction-diffusion, lateral inhibition, and threshold responses. The second type of model uses known genetic interactions from Drosophila melanogaster and patterns of candidate gene expression in one of several butterfly species (most often Junonia (Precis) coenia or Bicyclus anynana) to propose specific genetic regulatory hierarchies that appear to be involved in color pattern formation. This study combines these two approaches using computational techniques to test proposed genetic regulatory hierarchies for the determination of butterfly eyespot foci (also known as border ocelli foci). Two computer programs, STELLA 8.1 and Delphi 2.0, were used to simulate the determination of eyespot foci. Both programs revealed weaknesses in a genetic model previously proposed for eyespot focus determination. On the basis of these simulations, we propose two revised models for eyespot focus determination and identify components of the genetic regulatory hierarchy that are particularly sensitive to changes in model parameter values. These components may play a key role in the evolution of butterfly eyespots. Simulations like these may be useful tools for the study of other evolutionary developmental model systems and reveal similar sensitive components of the relevant genetic regulatory hierarchies.

  10. Simulating gas and particulate pollution over the Middle East and the state of Qatar using a 3-D regional air quality modeling system

    NASA Astrophysics Data System (ADS)

    Fountoukis, Christos; Gladich, Ivan; Ayoub, Mohammed; Kais, Sabre; Ackermann, Luis; Skillern, Adam

    2016-04-01

    The rapid urbanization, industrialization and economic expansion in the Middle East have led to increased levels of atmospheric pollution with important implications for human health and climate. We applied the online-coupled meteorological and chemical transport Weather Research and Forecasting/Chemistry (WRF-Chem) model over the Middle Eastern domain, to simulate the concentration of gas and aerosols with a special focus over the state of Qatar. WRF-Chem was set to simulate pollutant concentrations along with the meteorology-chemistry interactions through the related direct, indirect and semi-direct feedback mechanisms. A triple-nested domain configuration was used with a high grid resolution (1x1 km2) over the region of Qatar. Model predictions are evaluated against intensive measurements of meteorological parameters (temperature, relative humidity and wind speed) as well as ozone and particulate matter taken from various measurement stations throughout Doha, Qatar during summer 2015. The ability of the model to capture the temporal and spatial variability of the observations is assessed and possible reasons for the model bias are explored through sensitivity tests. Emissions of both fine and coarse mode particles from construction activities in large urban Middle Eastern environments comprise a major pollution source that is unaccounted for in emission inventories used so far in large scale models for this part of the world.

  11. Cultural competence springs up in the desert: the story of the center for cultural competence in health care at Weill Cornell Medical College in Qatar.

    PubMed

    Elnashar, Maha; Abdelrahim, Huda; Fetters, Michael D

    2012-06-01

    The authors describe the factors that led Weill Cornell Medical College in Qatar (WCMC-Q) to establish the Center for Cultural Competence in Health Care from the ground up, and they explore challenges and successes in implementing cultural competence training.Qatar's capital, Doha, is an extremely high-density multicultural setting. When WCMC-Q's first class of medical students began their clinical clerkships at the affiliated teaching hospital Hamad Medical Corporation in 2006, the complicated nature of training in a multicultural and multilingual setting became apparent immediately. In response, initiatives to improve students' cultural competence were undertaken. Initiatives included launching a medical interpretation program in 2007; surveying the patients' spoken languages, examining the effect of an orientation program on interpretation requests, and surveying faculty using the Tool for Assessing Cultural Competence Training in 2008; implementing cultural competence training for students and securing research funding in 2009; and expanding awareness to the Qatar community in 2010. These types of initiatives, which are generally highly valued in U.S. and Canadian settings, are also apropos in the Arabian Gulf region.The authors report on their initial efforts, which can serve as a resource for other programs in the Arabian Gulf region. PMID:22534600

  12. In vivo studies on possible health consequences of genetically modified food and feed--with particular regard to ingredients consisting of genetically modified plant materials.

    PubMed

    Pryme, Ian F; Lembcke, Rolf

    2003-01-01

    This synopsis reviews published in vivo studies on possible health consequences of genetically modified food and feed where the ingredients in question have consisted of genetically modified plant materials. The following, however, have not been taken into consideration:--ingredients consisting of genetically modified microorganisms or parts of animals/fish--ingredients produced by/from genetically modified organisms but without any DNA present--studies on consequences for the environment or biodiversity--in vitro studies or computer simulations. According to a Norwegian report "Gen-mat" (NOU 2000:29), and a more recent search in Medline and Citations Index, to our knowledge a total of ten studies have been published on the health effects of GM-foods and feeds. In this minireview the data made available in these published studies is discussed.

  13. Genetic and environmental influences on intimate partner aggression: a preliminary study.

    PubMed

    Hines, Denise A; Saudino, Kimberly J

    2004-12-01

    Social learning theory posits that, because aggression against intimates runs in families, children learn how to behave aggressively through watching their parents and being reinforced for their own aggression. This theory considers only environmental influences on familial resemblance; however, familial resemblance could also be due to genetic factors. The current study uses a twin design (134 monozygotic, 41 dizygotic) to examine the extent to which genetic and environmental factors contribute to individual differences in intimate aggression. Model-fitting analyses consistently showed that shared genes explained the familial resemblance in psychological and physical intimate partner aggression; the remaining variance was explained by unique environments. Multivariate model-fitting analyses showed that most of the genetic influences responsible for the receipt of aggression were also responsible for its use, suggesting that there is a genetic predisposition to get involved in aggressive relationships. These results challenge the prevailing theory to explain familial resemblance in intimate aggression.

  14. A family smoking index to capture genetic influence in smoking: rationale and two validation studies.

    PubMed

    Drobes, David J; Munafò, Marcus R; Leigh, Fiona; Saladin, Michael E

    2005-02-01

    Despite a growing appreciation that genetic factors may impart vulnerability toward smoking behavior, only a modest consensus has been created about the specific genetic mechanisms that may underlie various aspects of smoking. A core feature of genetic contribution toward any complex human behavior is familial resemblance. Most previous attempts to index familial smoking have classified individuals into discrete categories, based on the number of smokers in a family. We discuss the development of a continuous measure of familial smoking, the Family Smoking Index (FSI), which is based on the proportion of smokers in first- and second-degree family members and provides a more precise weighting according to genetic proximity. We present the psychometric characteristics of the FSI as well as initial validation data from two studies. We also describe current and future directions for continued FSI validation and application.

  15. Dioecy, more than monoecy, affects plant spatial genetic structure: the case study of Ficus

    PubMed Central

    Nazareno, Alison G; Alzate-Marin, Ana L; Pereira, Rodrigo Augusto S

    2013-01-01

    In this analysis, we attempt to understand how monoecy and dioecy drive spatial genetic structure (SGS) in plant populations. For this purpose, plants of the genus Ficus were used as a comparative model due to their particular characteristics, including high species diversity, variation in life histories, and sexual systems. One of the main issues we assessed is whether dioecious fig tree populations are more spatially genetically structured than monoecious populations. Using the Sp statistic, which allows for quantitative comparisons among different studies, we compared the extent of SGS between monoecious and dioecious Ficus species. To broaden our conclusions we used published data on an additional 27 monoecious and dioecious plant species. Furthermore, genetic diversity analyses were performed for two monoecious Ficus species using 12 microsatellite markers in order to strengthen our conclusions about SGS. Our results show that dioecy, more than monoecy, significantly contributes to SGS in plant populations. On average, the estimate of Sp was six times higher for dioecious Ficus species than monoecious Ficus species and it was two times higher in dioecious than monoecious plant species. Considering these results, we emphasize that the long-distance pollen dispersal mechanism in monoecious Ficus species seems to be the dominant factor in determining weak spatial genetic structure, high levels of genetic diversity, and lack of inbreeding. Although Ficus constitute a model species to study SGS, a more general comparison encompassing a wider range of plants is required in order to better understand how sexual systems affect genetic structure. PMID:24223285

  16. Can captive populations function as sources of genetic variation for reintroductions into the wild? A case study of the Arabian oryx from the Phoenix Zoo and the Shaumari Wildlife Reserve, Jordan

    USGS Publications Warehouse

    Ochoa, Alexander; Wells, Stuart A.; West, Gary; Al-Smadi, Ma’en; Redondo, Sergio A.; Sexton, Sydnee R.; Culver, Melanie

    2016-01-01

    The Arabian oryx (Oryx leucoryx) historically ranged across the Arabian Peninsula and neighboring countries until its extirpation in 1972. In 1963–1964 a captive breeding program for this species was started at the Phoenix Zoo (PHX); it ultimately consisted of 11 animals that became known as the ‘World Herd’. In 1978–1979 a wild population was established at the Shaumari Wildlife Reserve (SWR), Jordan, with eight descendants from the World Herd and three individuals from Qatar. We described the mtDNA and nuclear genetic diversity and structure of PHX and SWR. We also determined the long-term demographic and genetic viability of these populations under different reciprocal translocation scenarios. PHX displayed a greater number of mtDNA haplotypes (n = 4) than SWR (n = 2). Additionally, PHX and SWR presented nuclear genetic diversities of N¯AN¯A = 2.88 vs. 2.75, H¯OH¯O = 0.469 vs. 0.387, and H¯EH¯E = 0.501 vs. 0.421, respectively. Although these populations showed no signs of inbreeding (F¯ISF¯IS ≈ 0), they were highly differentiated (G′′STGST′′ = 0.580; P < 0.001). Migration between PHX and SWR (Nm = 1, 4, and 8 individuals/generation) increased their genetic diversity in the short-term and substantially reduced the probability of extinction in PHX during 25 generations. Under such scenarios, maximum genetic diversities were achieved in the first generations before the effects of genetic drift became predominant. Although captive populations can function as sources of genetic variation for reintroduction programs, we recommend promoting mutual and continuous gene flow with wild populations to ensure the long-term survival of this species.

  17. Population genetic study among the Orange Asli (Semai Senoi) of Malaysia: Malayan aborigines.

    PubMed

    Saha, N; Mak, J W; Tay, J S; Liu, Y; Tan, J A; Low, P S; Singh, M

    1995-02-01

    A population genetic study was undertaken to provide gene frequency data on the additional blood genetic markers in the Semai and to estimate the genetic relations between the Semai and their neighboring and linguistically related populations by genetic distance and principal components analyses. Altogether 10 polymorphic and 7 monomorphic blood genetic markers (plasma proteins and red cell enzymes) were studied in a group of 349 Senoi Semai from 11 aboriginal settlements (villages) in the Pahang State of western Malaysia. Both the red cell glucose-6-phosphate dehydrogenase (G6PD) and 6-phosphogluconate dehydrogenase (PGD) loci reveal the presence of polymorphic frequencies of a nondeficient slow allele at the G6PD locus and a fast allele at the PGD locus. The Semai are characterized by high prevalences of ahaptoglobinemia and G6PD deficiency, high frequencies of HP*1, HB*E, RH*R1, ACP*C, GLO1*1, PGM1*2+, and GC*1F and corresponding low frequencies of ABO*A, HbCoSp, HB*B0, TF*D, CHI, and GC*2. Genetic distance analyses by both cluster and principal components models were performed between the Semai and 14 other populations (Malay; Javanese; Khmer; Veddah; Tamils of Malaysia, Sri Lanka, and India; Sinhalese; Oraon; Toda and Irula of India; Chinese; Japanese; Koreans) on the basis of 30 alleles at 7 polymorphic loci. A more detailed analysis using 53 alleles at 13 polymorphic loci with 10 populations was carried out. Both analyses give genetic evidence of a close relationship between the Semai and the Khmer of Cambodia. Furthermore, the Semai are more closely related to the Javanese than to their close neighbors--the Malay, Chinese, and Tamil Indians. There is no evidence for close genetic relationship between the Semai and the Veddah or other Indian tribes. The evidence fits well with the linguistic relationship of the Semai with the Mon-Khmer branch of the Austro-Asiatic language family.

  18. Studying Human Disease Genes in "Caenorhabditis Elegans": A Molecular Genetics Laboratory Project

    ERIC Educational Resources Information Center

    Cox-Paulson, Elisabeth A.; Grana, Theresa M.; Harris, Michelle A.; Batzli, Janet M.

    2012-01-01

    Scientists routinely integrate information from various channels to explore topics under study. We designed a 4-wk undergraduate laboratory module that used a multifaceted approach to study a question in molecular genetics. Specifically, students investigated whether "Caenorhabditis elegans" can be a useful model system for studying genes…

  19. Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research.

    PubMed

    Widdig, Anja; Kessler, Matthew J; Bercovitch, Fred B; Berard, John D; Duggleby, Christine; Nürnberg, Peter; Rawlins, Richard G; Sauermann, Ulrike; Wang, Qian; Krawczak, Michael; Schmidtke, Jörg

    2016-01-01

    Genetic studies not only contribute substantially to our current understanding of the natural variation in behavior and health in many species, they also provide the basis of numerous in vivo models of human traits. Despite the many challenges posed by the high level of biological and social complexity, a long lifespan and difficult access in the field, genetic studies of primates are particularly rewarding because of the close evolutionary relatedness of these species to humans. The free-ranging rhesus macaque (Macaca mulatta) population on Cayo Santiago (CS), Puerto Rico, provides a unique resource in this respect because several of the abovementioned caveats are of either minor importance there, or lacking altogether, thereby allowing long-term genetic research in a primate population under constant surveillance since 1956. This review summarizes more than 40 years of genetic research carried out on CS, from early blood group typing and the genetic characterization of skeletal material via population-wide paternity testing with DNA fingerprints and short tandem repeats (STRs) to the analysis of the highly polymorphic DQB1 locus within the major histocompatibility complex (MHC). The results of the paternity studies also facilitated subsequent studies of male dominance and other factors influencing male reproductive success, of male reproductive skew, paternal kin bias, and mechanisms of paternal kin recognition. More recently, the CS macaques have been the subjects of functional genetic and gene expression analyses and have played an important role in behavioral and quantitative genetic studies. In addition, the CS colony has been used as a natural model for human adult-onset macular degeneration, glaucoma, and circadian rhythm disorder. Our review finishes off with a discussion of potential future directions of research on CS, including the transition from STRs to single nucleotide polymorphism (SNP) typing and whole genome sequencing. PMID:26031601

  20. DEVELOPMENT OF DNA BASED MICROSATELLITE MARKER TECHNOLOGY FOR STUDIES OF GENETIC DIVERSITY IN CENTRAL STONEROLLER (CAMPOSTOMA ANOMALUM) POPULATIONS

    EPA Science Inventory

    The level of genetic diversity of aquatic species is a critical indicator of stream system condition for which few data exist. There is strong evidence suggesting that environmental stressors affect the genetic diversity of exposed populations. In order to study genetic diversi...

  1. Integrated analyses of gene expression and genetic association studies in a founder population

    PubMed Central

    Cusanovich, Darren A.; Caliskan, Minal; Billstrand, Christine; Michelini, Katelyn; Chavarria, Claudia; De Leon, Sherryl; Mitrano, Amy; Lewellyn, Noah; Elias, Jack A.; Chupp, Geoffrey L.; Lang, Roberto M.; Shah, Sanjiv J.; Decara, Jeanne M.; Gilad, Yoav; Ober, Carole

    2016-01-01

    Genome-wide association studies (GWASs) have become a standard tool for dissecting genetic contributions to disease risk. However, these studies typically require extraordinarily large sample sizes to be adequately powered. Strategies that incorporate functional information alongside genetic associations have proved successful in increasing GWAS power. Following this paradigm, we present the results of 20 different genetic association studies for quantitative traits related to complex diseases, conducted in the Hutterites of South Dakota. To boost the power of these association studies, we collected RNA-sequencing data from lymphoblastoid cell lines for 431 Hutterite individuals. We then used Sherlock, a tool that integrates GWAS and expression quantitative trait locus (eQTL) data, to identify weak GWAS signals that are also supported by eQTL data. Using this approach, we found novel associations with quantitative phenotypes related to cardiovascular disease, including carotid intima-media thickness, left atrial volume index, monocyte count and serum YKL-40 levels. PMID:26931462

  2. Born to Lead? A Twin Design and Genetic Association Study of Leadership Role Occupancy.

    PubMed

    De Neve, Jan-Emmanuel; Mikhaylov, Slava; Dawes, Christopher T; Christakis, Nicholas A; Fowler, James H

    2013-02-01

    We address leadership emergence and the possibility that there is a partially innate predisposition to occupy a leadership role. Employing twin design methods on data from the National Longitudinal Study of Adolescent Health, we estimate the heritability of leadership role occupancy at 24%. Twin studies do not point to specific genes or neurological processes that might be involved. We therefore also conduct association analysis on the available genetic markers. The results show that leadership role occupancy is associated with rs4950, a single nucleotide polymorphism (SNP) residing on a neuronal acetylcholine receptor gene (CHRNB3). We replicate this family-based genetic association result on an independent sample in the Framingham Heart Study. This is the first study to identify a specific genotype associated with the tendency to occupy a leadership position. The results suggest that what determines whether an individual occupies a leadership position is the complex product of genetic and environmental influences; with a particular role for rs4950. PMID:23459689

  3. Born to Lead? A Twin Design and Genetic Association Study of Leadership Role Occupancy*

    PubMed Central

    De Neve, Jan-Emmanuel; Mikhaylov, Slava; Dawes, Christopher T.; Christakis, Nicholas A.; Fowler, James H.

    2013-01-01

    We address leadership emergence and the possibility that there is a partially innate predisposition to occupy a leadership role. Employing twin design methods on data from the National Longitudinal Study of Adolescent Health, we estimate the heritability of leadership role occupancy at 24%. Twin studies do not point to specific genes or neurological processes that might be involved. We therefore also conduct association analysis on the available genetic markers. The results show that leadership role occupancy is associated with rs4950, a single nucleotide polymorphism (SNP) residing on a neuronal acetylcholine receptor gene (CHRNB3). We replicate this family-based genetic association result on an independent sample in the Framingham Heart Study. This is the first study to identify a specific genotype associated with the tendency to occupy a leadership position. The results suggest that what determines whether an individual occupies a leadership position is the complex product of genetic and environmental influences; with a particular role for rs4950. PMID:23459689

  4. Born to Lead? A Twin Design and Genetic Association Study of Leadership Role Occupancy.

    PubMed

    De Neve, Jan-Emmanuel; Mikhaylov, Slava; Dawes, Christopher T; Christakis, Nicholas A; Fowler, James H

    2013-02-01

    We address leadership emergence and the possibility that there is a partially innate predisposition to occupy a leadership role. Employing twin design methods on data from the National Longitudinal Study of Adolescent Health, we estimate the heritability of leadership role occupancy at 24%. Twin studies do not point to specific genes or neurological processes that might be involved. We therefore also conduct association analysis on the available genetic markers. The results show that leadership role occupancy is associated with rs4950, a single nucleotide polymorphism (SNP) residing on a neuronal acetylcholine receptor gene (CHRNB3). We replicate this family-based genetic association result on an independent sample in the Framingham Heart Study. This is the first study to identify a specific genotype associated with the tendency to occupy a leadership position. The results suggest that what determines whether an individual occupies a leadership position is the complex product of genetic and environmental influences; with a particular role for rs4950.

  5. Specificity of Genetic Biomarker Studies in Cancer Research: A Systematic Review

    PubMed Central

    Carmona, Ruben; Zakeri, Kaveh; Lee, Chih-Han; Borgan, Saif; Marhoon, Zaid; Sharabi, Andrew; Mell, Loren K.

    2016-01-01

    As genetic information becomes more readily available, there is increasing demand from both patients and providers to develop personalized approaches to cancer care. Investigators are increasingly reporting numbers of studies correlating genomic signatures and other biomarkers to survival endpoints. The extent to which cancer-specific and non-specific effects are reported in contemporary studies is unknown. In this review of 85 high-impact studies associating genetic biomarkers with cancer outcomes, 95% reported significant associations with event-free survival outcomes, yet less than half reported effects on a cancer-specific endpoint. This methodology leaves open the possibility that observed associations are unrelated to cancer. PMID:27383192

  6. Lewis Terman: Genetic Study of Genius--Elementary School Students

    ERIC Educational Resources Information Center

    Jolly, Jennifer L.

    2008-01-01

    Although the field of gifted education generally recognizes the foundational work of Lewis Terman, rarely does one stop to examine the details of his longitudinal study and their connection to present-day gifted education. This article reexamines the beginnings of Terman's longitudinal study with a focus on elementary-school-aged children.…

  7. The expanding phenotypic spectra of kidney diseases: insights from genetic studies.

    PubMed

    Stokman, Marijn F; Renkema, Kirsten Y; Giles, Rachel H; Schaefer, Franz; Knoers, Nine V A M; van Eerde, Albertien M

    2016-08-01

    Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether disease diagnoses should be made on clinical grounds, on genetic evidence or a combination thereof. Here, we discuss the major kidney disease-associated genes and gene categories for which NGS has expanded the phenotypic spectrum. For example, COL4A3-5 genes, which are classically associated with Alport syndrome, are now understood to also be involved in the aetiology of focal segmental glomerulosclerosis. DGKE, which is associated with nephrotic syndrome, is also mutated in patients with atypical haemolytic uraemic syndrome. We examine how a shared genetic background between diverse clinical phenotypes can provide insight into the function of genes and novel links with essential pathophysiological mechanisms. In addition, we consider genetic and epigenetic factors that contribute to the observed phenotypic heterogeneity of kidney diseases and discuss the challenges in the interpretation of genetic data. Finally, we discuss the implications of the expanding phenotypic spectra associated with kidney disease genes for clinical practice, genetic counselling and personalized care, and present our recommendations for the use of NGS-based tests in routine nephrology practice.

  8. The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.

    PubMed

    Roggenbuck, J; Temme, R; Pond, D; Baker, J; Jarvis, K; Liu, M; Dugan, S; Mendelsohn, N J

    2015-08-01

    Genetic counseling summary letters are intended to reinforce information received during genetic counseling, but little information is available on patient/family responses to these letters. We conducted a case-control study to assess the effectiveness of two different letter formats. Parents of children receiving a new diagnosis were enrolled. The control group (n = 85) received a genetic counseling summary letter in a narrative format, 4-5 pages in length. After the control enrollment period, genetic counselors were trained by a professional medical writer to develop a concise letter format. The case group (n = 64) received a concise letter, approximately 1.5 pages in length, utilizing simple sentences, lay terms, and lists/bullet points. Parents completed a survey 4 weeks after the visit to rate the letter's format, usefulness, and their emotional reaction. Results show that parents in the case group rated the letter more highly (p = 0.023), particularly in the emotional response dimension (rating changes in anxiety, depression, fear, ability to cope, and confidence in response to the letter). Parents in the case group also rated the genetic counseling session more highly (p = 0.039). In the control group, parents without a college degree were more likely to rate the letter as too long and the level of medical detail as too high. In the case group, no significant differences were seen between parents with or without a college degree. These data suggest that a short genetic counseling summary letter is rated higher by parents, and is particularly associated with a more positive emotional reaction. A short letter format highlighting the basic facts related to the genetic condition may be more useful to parents of diverse educational backgrounds, and may support a positive emotional adaptation at the time of a new diagnosis. Genetic counselors may benefit from specific instruction in medical and educational writing.

  9. Studying the Genetic Basis of Kidney Cancer - TCGA

    Cancer.gov

    Dr. Marston Linehan, NCI's Chief of Urologic Surgery, has spent the last several decades studying kidney cancer genes and treating kidney cancer patients. Learn more about his experience as a kidney cancer physician scientist and TCGA contributor in this

  10. Lipoprotein subclasses in genetic studies: the Berkeley data set.

    PubMed

    Krauss, R M; Williams, P T; Blanche, P J; Cavanaugh, A; Holl, L G; Austin, M A

    1993-01-01

    In conjunction with a study examining the inheritance of LDL subclass patterns in a healthy population, measurements of lipids, lipoproteins, and lipoprotein subclasses were performed in 301 individuals in 27 kindreds. Questionnaires were used to obtain information on use of medications, hormones, cigarettes, and alcohol. Laboratory data from this study (the Berkeley data set) include measurements of LDL and HDL size subclasses by nondenaturing gradient gel electrophoresis, and measurement of apolipoprotein A-I by radial immunodiffusion.

  11. Exogenous Visual Orienting Is Associated with Specific Neurotransmitter Genetic Markers: A Population-Based Genetic Association Study

    PubMed Central

    Lundwall, Rebecca A.; Guo, Dong-Chuan; Dannemiller, James L.

    2012-01-01

    Background Currently, there is a sense that the spatial orienting of attention is related to genotypic variations in cholinergic genes but not to variations in dopaminergic genes. However, reexamination of associations with both cholinergic and dopaminergic genes is warranted because previous studies used endogenous rather than exogenous cues and costs and benefits were not analyzed separately. Examining costs (increases in response time following an invalid pre-cue) and benefits (decreases in response time following a valid pre-cue) separately could be important if dopaminergic genes (implicated in disorders such as attention deficit disorder) independently influence the different processes of orienting (e.g., disengage, move, engage). Methodology/Principal Findings We tested normal subjects (N = 161) between 18 and 61 years. Participants completed a computer task in which pre-cues preceded the presence of a target. Subjects responded (with a key press) to the location of the target (right versus left of fixation). The cues could be valid (i.e., appear where the target would appear) or invalid (appear contralateral to where the target would appear). DNA sequencing assays were performed on buccal cells to genotype known genetic markers and these were examined for association with task scores. Here we show significant associations between visual orienting and genetic markers (on COMT, DAT1, and APOE; R2s from 4% to 9%). Conclusions/Significance One measure in particular – the response time cost of a single dim, invalid cue – was associated with dopaminergic markers on COMT and DAT1. Additionally, variations of APOE genotypes based on the ε2/ε3/ε4 alleles were also associated with response time differences produced by simultaneous cues with unequal luminances. We conclude that individual differences in visual orienting are related to several dopaminergic markers as well as to a cholinergic marker. These results challenge the view that orienting is not

  12. Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.

    PubMed

    He, Ji; Mangelsdorf, Marie; Fan, Dongsheng; Bartlett, Perry; Brown, Matthew A

    2015-12-01

    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology. Multiple genetic studies have been conducted to advance our understanding of the disease, employing a variety of techniques such as linkage mapping in families, to genome-wide association studies and sequencing based approaches such as whole exome sequencing and whole genome sequencing and a few epigenetic analyses. While major progress has been made, the majority of the genetic variation involved in ALS is yet to be undefined. The optimal study designs to investigate ALS depend on the genetic model for the disease, and it is likely that different approaches will be required to map genes involved in familial and sporadic disease. The potential approaches and their strengths and weaknesses are discussed.

  13. Application of computational methods in genetic study of inflammatory bowel disease

    PubMed Central

    Li, Jin; Wei, Zhi; Hakonarson, Hakon

    2016-01-01

    Genetic factors play an important role in the etiology of inflammatory bowel disease (IBD). The launch of genome-wide association study (GWAS) represents a landmark in the genetic study of human complex disease. Concurrently, computational methods have undergone rapid development during the past a few years, which led to the identification of numerous disease susceptibility loci. IBD is one of the successful examples of GWAS and related analyses. A total of 163 genetic loci and multiple signaling pathways have been identified to be associated with IBD. Pleiotropic effects were found for many of these loci; and risk prediction models were built based on a broad spectrum of genetic variants. Important gene-gene, gene-environment interactions and key contributions of gut microbiome are being discovered. Here we will review the different types of analyses that have been applied to IBD genetic study, discuss the computational methods for each type of analysis, and summarize the discoveries made in IBD research with the application of these methods. PMID:26811639

  14. Genetic and Environmental Influences on Pubertal Timing: Results from Two National Sibling Studies

    ERIC Educational Resources Information Center

    Ge, Xiaojia; Natsuaki, Misaki N.; Neiderhiser, Jenae M.; Reiss, David

    2007-01-01

    This study examined genetic and environmental effects on individual variation in pubertal timing using two national samples of siblings from the Nonshared Environment of Adolescent Development (NEAD) and the National Longitudinal Study of Adolescent Health (Add Health). In each sample, female and male siblings with different degrees of genetic…

  15. Evaluation of the Endorsement of the STrengthening the REporting of Genetic Association Studies (STREGA) Statement on the Reporting Quality of Published Genetic Association Studies

    PubMed Central

    Nedovic, Darko; Panic, Nikola; Pastorino, Roberta; Ricciardi, Walter; Boccia, Stefania

    2016-01-01

    The STrengthening the REporting of Genetic Association studies (STREGA) statement was based on the STrengthening the REporting of OBservational studies in Epidemiology (STROBE) statement, and it was published in 2009 in order to improve the reporting of genetic association (GA) studies. Our aim was to evaluate the impact of STREGA endorsement on the quality of reporting of GA studies published in journals in the field of genetics and heredity (GH). Quality of reporting was evaluated by assessing the adherence of papers to the STREGA checklist. After identifying the GH journals that endorsed STREGA in their instructions for authors, we randomly appraised papers published in 2013 from journals endorsing STREGA that published GA studies (Group A); in GH journals that never endorsed STREGA (Group B); in GH journals endorsing STREGA, but in the year preceding its endorsement (Group C); and in the same time period as Group C from GH journals that never endorsed STREGA (Group D). The STREGA statement was referenced in 29 (18.1%) of 160 GH journals, of which 18 (62.1%) journals published GA studies. Among the 18 journals endorsing STREGA, we found a significant increase in the overall adherence to the STREGA checklist over time (A vs C; P < 0.0001). Adherence to the STREGA checklist was significantly higher in journals endorsing STREGA compared to those that did not endorse the statement (A vs B; P = 0.04). No significant improvement was detected in the adherence to STREGA items in journals not endorsing STREGA over time (B vs D; P > 0.05). The endorsement of STREGA resulted in an increase in quality of reporting of GA studies over time, while no similar improvement was reported for journals that never endorsed STREGA. PMID:27349199

  16. Genetic predictors of exercise adherence in the Tiger study

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Obesity established in adolescence strongly predicts obesity for the remainder of adult life, suggesting this is a critical time in which to establish healthy diet and physical activity behaviors. Many studies have reported low levels of habitual activity among this age group, however. We hypothesiz...

  17. Ethical, legal and social issues of genetic studies with African immigrants as research subjects.

    PubMed

    Gong, Gordon; Kosoko-Lasaki, Sade; Haynatzki, Gleb; Cook, Cynthia; O'Brien, Richard L; Houtz, Lynne E

    2008-09-01

    There is growing interest in exploring gene-environment interactions in the etiology of diseases in immigrants from sub-Saharan Africa. Our experience working with the Sudanese immigrant population in Omaha, NE, makes clear the pressing need for geneticists and federal and local funding agencies to address the ethical, legal and social implications of genetic research with such vulnerable populations. Our work raises several questions. How does one design research with African immigrant participants to assure it is ethical? Many immigrants may not understand the purposes, risks and benefits involved in research because of low literacy rates, one of the results of civil wars, or concepts of biologic science foreign to their cultures. Is it possible to obtain truly informed consent? Do African immigrants perceive genetic research using them as subjects as racist? Is genetic research on minorities "biopiracy" or "bio-colonialism?" In our experience, some Sudanese immigrants have challenged the legality and ethics of genetic studies with profit-making as an end. We have concluded that it is essential to educate African immigrant or any other non-English-speaking immigrant participants in research using lay language and graphic illustrations before obtaining consent. Cultural proficiency is important in gaining the trust of African immigrants; profit-sharing may encourage their participation in genetic research to benefit all; involvement of African immigrant community leaders in planning, delivery and evaluation using the community-based participatory research approach will facilitate healthcare promotion, health literacy education, as well as genetic research. It is crucial to address the ethical, legal and social implications of genetic studies with African immigrants as research subjects. PMID:18807438

  18. Ethical, legal and social issues of genetic studies with African immigrants as research subjects.

    PubMed

    Gong, Gordon; Kosoko-Lasaki, Sade; Haynatzki, Gleb; Cook, Cynthia; O'Brien, Richard L; Houtz, Lynne E

    2008-09-01

    There is growing interest in exploring gene-environment interactions in the etiology of diseases in immigrants from sub-Saharan Africa. Our experience working with the Sudanese immigrant population in Omaha, NE, makes clear the pressing need for geneticists and federal and local funding agencies to address the ethical, legal and social implications of genetic research with such vulnerable populations. Our work raises several questions. How does one design research with African immigrant participants to assure it is ethical? Many immigrants may not understand the purposes, risks and benefits involved in research because of low literacy rates, one of the results of civil wars, or concepts of biologic science foreign to their cultures. Is it possible to obtain truly informed consent? Do African immigrants perceive genetic research using them as subjects as racist? Is genetic research on minorities "biopiracy" or "bio-colonialism?" In our experience, some Sudanese immigrants have challenged the legality and ethics of genetic studies with profit-making as an end. We have concluded that it is essential to educate African immigrant or any other non-English-speaking immigrant participants in research using lay language and graphic illustrations before obtaining consent. Cultural proficiency is important in gaining the trust of African immigrants; profit-sharing may encourage their participation in genetic research to benefit all; involvement of African immigrant community leaders in planning, delivery and evaluation using the community-based participatory research approach will facilitate healthcare promotion, health literacy education, as well as genetic research. It is crucial to address the ethical, legal and social implications of genetic studies with African immigrants as research subjects.

  19. [Studies of the repair of radiation-induced genetic damage in Drosophila]. Final progress report

    SciTech Connect

    Hawley, R.S.

    1998-11-01

    This research focuses on the structure of the mei-41 gene and elucidation of the role the mei-41 gene product plays in both recombination and repair. Genetic and molecular studies are continuing on the mus308 locus and the mus312 and mei-9 genes. The author views mus312 as a very likely candidate for a gene required for both chromosome pairing/synopsis and for double strand break repair. A thorough genetic study has been initiated of this locus and of the cytology of the meiotic and mitotic defects of mutations at this locus.

  20. Genetic markers for studies on the systematics and population genetics of snails, Bithynia spp., the first intermediate hosts of Opisthorchis viverrini in Thailand.

    PubMed

    Kiatsopit, Nadda; Sithithaworn, Paiboon; Boonmars, Thidarut; Tesana, Smarn; Chanawong, Arunwadee; Saijuntha, Weerachai; Petney, Trevor N; Andrews, Ross H

    2011-05-01

    Snails are the critical amplifying hosts of the liver fluke Opisthorchis viverrini, the causative agent of hepatobiliary disease and cholangiocarcinoma in the Mekong area of Southeast Asia. Bithynia funiculata, B. siamensis goniomphalos and B. s. siamensis are the first intermediate hosts of O. viverrini in Thailand. Morphological similarity between Bithynia species and subspecies creates problems for their taxonomic identification and an understanding of Bithynia systematics. In this study, multilocus enzyme electrophoresis (MEE) was applied to define genetic markers that could prove useful for investigating the systematics and population genetics of this genus in Thailand. Of the 34 enzymes examined, 20 encoding a presumptive 24 loci showed sufficient staining intensity and resolution for genetic interpretation. Of these, three loci were monomorphic and eight loci were diagnostic among the three Bithynia taxa. The remaining 13 loci were diagnostic between combinations of the three taxa. Fixed genetic differences were detected at 67-73% of loci among these taxa which in turn differed from a closely related species, Hydrobioides nassa, at 88% of loci. Seventy three percent fixed genetic differences were detected between B. funiculata and the two sub-species B. s. siamensis and B. s goniomphalos. Our data reveals similarly large genetic divergence, 67% fixed genetic differences, between B. s. siamensis and B. s. goniomphalos, which may well represent different species rather than subspecies as currently defined. The genetic markers detected will form the basis for subsequent comprehensive studies on the systematics and population genetics of Bithynia snails as well as for their role in the transmission of O. viverrini and opisthorchiasis. PMID:21352793

  1. Genetics of schizophrenia and smoking: an approach to studying their comorbidity based on epidemiological findings

    PubMed Central

    de Leon, Jose; Diaz, Francisco J.

    2012-01-01

    The association between schizophrenia and tobacco smoking has been described in more than 1,000 articles, many with inadequate methodology. The studies on this association can focus on: (1) current smoking, ever smoking or smoking cessation; (2) non-psychiatric controls or controls with severe mental illness (e.g., bipolar disorder); and (3) higher smoking frequency or greater usage in smokers. The association with the most potential for genetic studies is that between ever daily smoking and schizophrenia; it may reflect a shared genetic vulnerability. To reduce the number of false-positive genes, we propose a three-stage approach derived from epidemiological knowledge. In the first stage, only genetic variations associated with ever daily smoking that are simultaneously significant within the non-psychiatric controls, the bipolar disorder controls and the schizophrenia cases will be selected. Only those genetic variations that are simultaneously significant in the three hypothesis tests will be tested in the second stage, where the prevalence of the genes must be significantly higher in schizophrenia than in bipolar disorder, and significantly higher in bipolar disorder than in controls. The genes simultaneously significant in the second stage will be included in a third stage where the gene variations must be significantly more frequent in schizophrenia patients who did not start smoking daily until their 20s (late start) versus those who had an early start. Any genetic approach to psychiatric disorders may fail if attention is not given to comorbidity and epidemiological studies that suggest which comorbidities are likely to be explained by genetics and which are not. Our approach, which examines the results of epidemiological studies on comorbidities and then looks for genes that simultaneously satisfy epidemiologically suggested sets of hypotheses, may also apply to the study of other major illnesses. PMID:22190153

  2. A biochemical and genetic study of Leishmania donovani pyruvate kinase.

    PubMed

    Sandoval, Will; Isea, Raúl; Rodriguez, Evelyn; Ramirez, Jose Luis

    2008-11-15

    Here we present a biochemical and molecular biology study of the enzyme pyruvate kinase (PYK) from the parasitic protozoa Leishmania donovani. The PYK gene was cloned, mutagenised and over expressed and its kinetic parameters determined. Like in other kinetoplastids, L. donovani PYK is allosterically stimulated by the effector fructose 2,6 biphosphate and not by fructose 1,6 biphosphate. When the putative effector binding site of L. donovani PYK was mutagenised, we obtained two mutants with extreme kinetic behavior: Lys453Leu, which retained a sigmoidal kinetics and was little affected by the effector; and His480Gln, which deployed a hyperbolic kinetics that was not changed by the addition of the effector. Molecular Dynamics (MD) studies revealed that the mutations not only altered the effector binding site of L. donovani PYK but also changed the folding of its domain C. PMID:18725273

  3. A targeted genetic association study of epithelial ovarian cancer susceptibility

    PubMed Central

    Earp, Madalene; Winham, Stacey J.; Larson, Nicholas; Permuth, Jennifer B.; Sicotte, Hugues; Chien, Jeremy; Anton-Culver, Hoda; Bandera, Elisa V.; Berchuck, Andrew; Cook, Linda S.; Cramer, Daniel; Doherty, Jennifer A.; Goodman, Marc T.; Levine, Douglas A.; Monteiro, Alvaro N.A.; Ness, Roberta B.; Pearce, Celeste L.; Rossing, Mary Anne; Tworoger, Shelley S.; Wentzensen, Nicolas; Bisogna, Maria; Brinton, Louise; Brooks-Wilson, Angela; Carney, Michael E.; Cunningham, Julie M.; Edwards, Robert P.; Fogarty, Zachary C.; Iversen, Edwin S.; Kraft, Peter; Larson, Melissa C.; Le, Nhu D.; Lin, Hui-Yi; Lissowska, Jolanta; Modugno, Francesmary; Moysich, Kirsten B.; Olson, Sara H.; Pike, Malcolm C.; Poole, Elizabeth M.; Rider, David N.; Terry, Kathryn L.; Thompson, Pamela J.; van den Berg, David; Vierkant, Robert A.; Vitonis, Allison F.; Wilkens, Lynne R.; Wu, Anna H.; Yang, Hannah P.; Ziogas, Argyrios; Phelan, Catherine M.; Schildkraut, Joellen M.; Chen, Yian Ann; Sellers, Thomas A.; Fridley, Brooke L.; Goode, Ellen L.

    2016-01-01

    Background Genome-wide association studies have identified several common susceptibility alleles for epithelial ovarian cancer (EOC). To further understand EOC susceptibility, we examined previously ungenotyped candidate variants, including uncommon variants and those residing within known susceptibility loci. Results At nine of eleven previously published EOC susceptibility regions (2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13), novel variants were identified that were more strongly associated with risk than previously reported variants. Beyond known susceptibility regions, no variants were found to be associated with EOC risk at genome-wide statistical significance (p <5×10−8), nor were any significant after Bonferroni correction for 17,000 variants (p< 3×10-6). Methods A customized genotyping array was used to assess over 17,000 variants in coding, non-coding, regulatory, and known susceptibility regions in 4,973 EOC cases and 5,640 controls from 13 independent studies. Susceptibility for EOC overall and for select histotypes was evaluated using logistic regression adjusted for age, study site, and population substructure. Conclusion Given the novel variants identified within the 2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13 regions, larger follow-up genotyping studies, using imputation where necessary, are needed for fine-mapping and confirmation of low frequency variants that fall below statistical significance. PMID:26848776

  4. Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

    PubMed

    Halbach, Nicky; Smeets, Eric E; Julu, Peter; Witt-Engerström, Ingegerd; Pini, Giorgio; Bigoni, Stefania; Hansen, Stig; Apartopoulos, Flora; Delamont, Robert; van Roozendaal, Kees; Scusa, Maria F; Borelli, Paolo; Candel, Math; Curfs, Leopold

    2016-09-01

    Many studies have attempted to establish the genotype-phenotype correlation in Rett syndrome (RTT). Cardiorespiratory measurements provide robust objective data, to correlate with each of the different clinical phenotypes. It has important implications for the management and treatment of this syndrome. The aim of this study was to correlate the genotype with the quantitative cardiorespiratory data obtained by neurophysiological measurement combined with a clinical severity score. This international multicenter study was conducted in four European countries from 1999 to 2012. The study cohort consisted of a group of 132 well-defined RTT females aged between 2 and 43 years with extended clinical, molecular, and neurophysiological assessments. Diagnosis of RTT was based on the consensus criteria for RTT and molecular confirmation. Genotype-phenotype analyses of clinical features and cardiorespiratory data were performed after grouping mutations by the same type and localization or having the same putative biological effect on the MeCP2 protein, and subsequently on eight single recurrent mutations. A less severe phenotype was seen in females with CTS, p.R133C, and p.R294X mutations. Autonomic disturbances were present in all females, and not restricted to nor influenced by one specific group or any single recurrent mutation. The objective information from non-invasive neurophysiological evaluation of the disturbed central autonomic control is of great importance in helping to organize the lifelong care for females with RTT. Further research is needed to provide insights into the pathogenesis of autonomic dysfunction, and to develop evidence-based management in RTT. © 2016 Wiley Periodicals, Inc.

  5. Thrombocytopenia-absent radius syndrome: a clinical genetic study

    PubMed Central

    Greenhalgh, K; Howell, R; Bottani, A; Ancliff, P; Brunner, H; Verschuuren-Bemel..., C; Vernon, E; Brown, K; Newbury-Ecob, R

    2002-01-01

    The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the radii and a thrombocytopenia. The lower limbs, gastrointestinal, cardiovascular, and other systems may also be involved. Shaw and Oliver in 1959 were the first to describe this condition, but it was Hall et al in 1969 who reported the first major series of patients. Since then most reports have been based on single or small numbers of cases. We report the results of a clinical study looking at the phenotype of 34 patients with TAR syndrome. All cases had a documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% cow's milk intolerance, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies not previously described in association with TAR syndrome included facial capillary haemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. Karyotype analysis, chromosome breakage studies including premature centromeric separation and fluorescence in situ hybridisation studies looking for a deletion of chromosome 22q11 were undertaken. Two abnormal karyotypes were identified. PMID:12471199

  6. Medical genetics, public understanding and patient experiences: An exploratory qualitative study of recently pregnant women

    NASA Astrophysics Data System (ADS)

    Garman, Jamie L.

    The purpose of the study was to document how individuals' experiences and understanding of genetics concepts affects their medical experiences. Recently pregnant women were interviewed because they represent a population that needs to comprehend biological and genetic information to understand their health. Three women were designated as science experts (SE) defined as having extensive university level science education and three women were designated as science non-experts (SNE). In general, SEs described a more positive pregnancy experience. Both SEs and SNEs demonstrated a basic understanding of genetic concepts but varied in the application of concepts to personal medical issues. Participants' views and experiences of pre and postnatal tests were linked to their understanding of nature of science components such as recognition that tests have limitations. Results from this study indicate an incomplete understanding of the nature of science among participants may have led to unsatisfactory medical experiences.

  7. Genetic impact dominates over environmental effects in development of carotid artery stiffness: a twin study.

    PubMed

    Horváth, Tamás; Osztovits, János; Pintér, Alexandra; Littvay, Levente; Cseh, Domonkos; Tárnoki, Adám D; Tárnoki, Dávid L; Jermendy, Adám L; Steinbach, Rita; Métneki, Júlia; Schillaci, Giuseppe; Kollai, Márk; Jermendy, György

    2014-01-01

    Arterial stiffness is an independent predictor of cardiovascular, cerebrovascular and all-cause mortality. Quantifying the genetic influence on the stiff arterial phenotype allows us to better predict the development of arterial stiffness. In this study, we aimed to determine the heritability of carotid artery stiffness in healthy twins. We studied 98 twin pairs of both sexes. We determined carotid artery stiffness locally using echo tracking and applanation tonometry. We estimated the heritability of stiffness parameters using structural equation modeling. The carotid distensibility coefficient showed the highest heritability (64%, 95% confidence interval 45-77%). The incremental elastic modulus, compliance and stiffness index β also showed substantial heritability (62%, 61% and 58%, respectively). The remaining 36-42% phenotypic variance was attributed to unshared environmental effects. Genetic influence appears to dominate over environmental factors in the development of carotid artery stiffness. Environmental factors may have an important role in favorably influencing the genetic predisposition for accelerated arterial stiffening.

  8. The Genetic and Environmental Contributions to Internet Use and Associations With Psychopathology: A Twin Study.

    PubMed

    Long, Elizabeth C; Verhulst, Brad; Neale, Michael C; Lind, Penelope A; Hickie, Ian B; Martin, Nicholas G; Gillespie, Nathan A

    2016-02-01

    Excessive internet use has been linked to psychopathology. Therefore, understanding the genetic and environmental risks underpinning internet use and their relation to psychopathology is important. This study aims to explore the genetic and environmental etiology of internet use measures and their associations with internalizing disorders and substance use disorders. The sample included 2,059 monozygotic (MZ) and dizygotic (DZ) young adult twins from the Brisbane Longitudinal Twin Study (BLTS). Younger participants reported more frequent internet use, while women were more likely to use the internet for interpersonal communication. Familial aggregation in 'frequency of internet use' was entirely explained by additive genetic factors accounting for 41% of the variance. Familial aggregation in 'frequency of use after 11 pm', 'using the internet to contact peers', and 'using the internet primarily to access social networking sites' was attributable to varying combinations of additive genetic and shared environmental factors. In terms of psychopathology, there were no significant associations between internet use measures and major depression (MD), but there were positive significant associations between 'frequency of internet use' and 'frequency of use after 11 pm' with social phobia (SP). 'Using the internet to contact peers' was positively associated with alcohol abuse, whereas 'using the internet to contact peers' and 'using the internet primarily to access social networking sites' were negatively associated with cannabis use disorders and nicotine symptoms. Individual differences in internet use can be attributable to varying degrees of genetic and environmental risks. Despite some significant associations of small effect, variation in internet use appears mostly unrelated to psychopathology.

  9. Current status and prospects for the study of Nicotiana genomics, genetics, and nicotine biosynthesis genes.

    PubMed

    Wang, Xuewen; Bennetzen, Jeffrey L

    2015-02-01

    Nicotiana, a member of the Solanaceae family, is one of the most important research model plants, and of high agricultural and economic value worldwide. To better understand the substantial and rapid research progress with Nicotiana in recent years, its genomics, genetics, and nicotine gene studies are summarized, with useful web links. Several important genetic maps, including a high-density map of N. tabacum consisting of ~2,000 markers published in 2012, provide tools for genetics research. Four whole genome sequences are from allotetraploid species, including N. benthamiana in 2012, and three N. tabacum cultivars (TN90, K326, and BX) in 2014. Three whole genome sequences are from diploids, including progenitors N. sylvestris and N. tomentosiformis in 2013 and N. otophora in 2014. These and additional studies provide numerous insights into genome evolution after polyploidization, including changes in gene composition and transcriptome expression in N. tabacum. The major genes involved in the nicotine biosynthetic pathway have been identified and the genetic basis of the differences in nicotine levels among Nicotiana species has been revealed. In addition, other progress on chloroplast, mitochondrial, and NCBI-registered projects on Nicotiana are discussed. The challenges and prospects for genomic, genetic and application research are addressed. Hence, this review provides important resources and guidance for current and future research and application in Nicotiana.

  10. Genetic and developmental studies of albino chorus frogs

    USGS Publications Warehouse

    Corn, Paul Stephen

    1986-01-01

    Albino (amelanic) adult chorus frogs (Pseudacris triseriata) occurred with frequencies of 7 percent in 1981 and 12 percent in 1982 in breeding aggregations at a pond in the foothills of the Colorado Front Range. Laboratory matings and examination of albino egg masses suggest that the absence of melanin is due to a recessive allele. The albino phenotype displayed no deficiencies in survival of embryos, rates of embryo or larval development, or rates of growth of juvenile frogs. The absence of abnormalities in development or growth suggests that the a allele in P. triseriata has an action different from albino alleles studied previously in anurans.

  11. Genetic studies among Ramgarhias and Ramdasias of Punjab, North India.

    PubMed

    Sehajpal, P K; Khanna, A K; Singh, G; Sharma, V K

    1981-02-01

    This study reports results of investigations on ABO, Rh, haptoglobin and transferrin types in the two hitherto uninvestigated endogamous groups of Punjab, North India. Frequencies for the A, B, and O genes were found to be 0.1711, 0.2566, and 0.5723 in Ramdasias, and 0.1737, 0.2960, and 0.5303 in Ramgarhias. In all 13 Rhesus-negative individuals were encountered. The Hp2 allele shows a high frequency of 0.8060 for Ramdasias, and 0.7860 for Ramgarhias.

  12. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    PubMed Central

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

  13. Impact of genetic counseling and Connexin-26 and Connexin-30 testing on deaf identity and comprehension of genetic test results in a sample of deaf adults: a prospective, longitudinal study.

    PubMed

    Palmer, Christina G S; Boudreault, Patrick; Baldwin, Erin E; Sinsheimer, Janet S

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.

  14. Genetics of human stature: Lessons from genome-wide association studies.

    PubMed

    Perola, Markus

    2011-01-01

    Over the past 2 to 3 years, linkage disequilibrium mapping methods, or genome-wide association studies (GWAS), have made a seminal turn in the molecular genetic studies of complex human traits such as height, i.e., stature. Human stature is a highly heritable trait across populations and the phenotype for stature is easily measured and related to many other traits; therefore, it is available in most studies evaluating any phenotype. For this reason, it has become a beacon for large consortium genetic studies, during both the pre-GWAS and GWAS eras. Tens of thousands of genome-scanned individuals have been analysed together against their genome. Several loci have been implicated in association with stature (54 of these have been published), and most chromosomes have a locus linked to the trait in family studies. However, the prediction power of loci indentified by molecular genetic methods still remains inferior to clinical assessment of offspring stature using midparental height as a guide. Although the genomic methods provide important insights into heritability of stature, it will be a major challenge for molecular genetic studies to provide information that surpasses that of midparental height.

  15. Genetic study of glutathione accumulation during cold hardening in wheat.

    PubMed

    Kocsy, G; Szalai, G; Vágújfalvi, A; Stéhli, L; Orosz, G; Galiba, G

    2000-01-01

    The effect of cold hardening on the accumulation of glutathione (GSH) and its precursors was studied in the shoots and roots of wheat (Triticum aestivum L.) cv. Cheyenne (Ch, frost-tolerant) and cv. Chinese Spring (CS, moderately frost-sensitive), in a T. spelta L. accession (Tsp, frost-sensitive) and in chromosome substitution lines CS (Ch 5A) and CS (Tsp 5A). The fast induction of total glutathione accumulation was detected during the first 3 d of hardening in the shoots, especially in the frost-tolerant Ch and CS (Ch 5A). This observation was corroborated by the study of de novo GSH synthesis using [(35)S]sulfate. In Ch and CS (Ch 5A) the total cysteine, gamma-glutamylcysteine (precursors of GSH), hydroxymethylglutathione and GSH contents were greater during the 51-d treatment than in the sensitive genotypes. After 35 d hardening, when the maximum frost tolerance was observed, greater ratios of reduced to oxidised hydroxymethylglutathione and glutathione were detected in Ch and CS (Ch 5A) compared to the sensitive genotypes. A correspondingly greater glutathione reductase (EC 1.6.4.2) activity was also found in Ch and CS (Ch 5A). It can be assumed that chromosome 5A of wheat has an influence on GSH accumulation and on the ratio of reduced to oxidised glutathione as part of a complex regulatory function during hardening. Consequently, GSH may contribute to the enhancement of frost tolerance in wheat. PMID:10664136

  16. Genetic association of impulsivity in young adults: a multivariate study

    PubMed Central

    Khadka, S; Narayanan, B; Meda, S A; Gelernter, J; Han, S; Sawyer, B; Aslanzadeh, F; Stevens, M C; Hawkins, K A; Anticevic, A; Potenza, M N; Pearlson, G D

    2014-01-01

    Impulsivity is a heritable, multifaceted construct with clinically relevant links to multiple psychopathologies. We assessed impulsivity in young adult (N~2100) participants in a longitudinal study, using self-report questionnaires and computer-based behavioral tasks. Analysis was restricted to the subset (N=426) who underwent genotyping. Multivariate association between impulsivity measures and single-nucleotide polymorphism data was implemented using parallel independent component analysis (Para-ICA). Pathways associated with multiple genes in components that correlated significantly with impulsivity phenotypes were then identified using a pathway enrichment analysis. Para-ICA revealed two significantly correlated genotype–phenotype component pairs. One impulsivity component included the reward responsiveness subscale and behavioral inhibition scale of the Behavioral-Inhibition System/Behavioral-Activation System scale, and the second impulsivity component included the non-planning subscale of the Barratt Impulsiveness Scale and the Experiential Discounting Task. Pathway analysis identified processes related to neurogenesis, nervous system signal generation/amplification, neurotransmission and immune response. We identified various genes and gene regulatory pathways associated with empirically derived impulsivity components. Our study suggests that gene networks implicated previously in brain development, neurotransmission and immune response are related to impulsive tendencies and behaviors. PMID:25268255

  17. Genetic association study of Dickkopf-1 and sclerostin genes with paget disease of bone.

    PubMed

    Beauregard, Mariejka; Gagnon, Edith; Guay-Bélanger, Sabrina; Siris, Ethel S; Morissette, Jean; Brown, Jacques P; Michou, Laëtitia

    2013-11-01

    Increased expression of DKK1 gene was reported in pagetic osteoblasts and stromal cells, and increased serum levels of DKK1 and SOST proteins were reported in patients with Paget disease of bone (PDB). This study aimed at identifying rare genetic variants of the DKK1 and SOST genes and at testing for genetic association with PDB in the French-Canadian population. Exons, promoters, and exon-intron junctions of these genes were sequenced in patients with PDB and healthy controls. An association study of Tag SNPs of both genes was also performed in 239 pagetic patients and 297 healthy individuals. Three rare variants were identified in this study, all located in the DKK1 gene: one variant in the second exon leading to alteration in a highly conserved amino acid (p.R120L), one in the 5'-untranslated region (-50 C/A), and one in a splice site of intron 1 (IVS1 184 T/C), although none of these rare variants were associated with PDB. A genetic association of a Tag SNP of the DKK1 gene was found: the G allele of rs1569198 was significantly decreased in patients in comparison to controls (42 vs. 49 %, uncorrected P = 0.03, OR = 0.77, 95 % CI 0.61-0.98). In conclusion, this study identified three rare genetic variants in DKK1 in the French-Canadian population. In addition, a weak genetic association of a common variant of DKK1, rs1569198, which is located on a predicted new acceptor site for splicing of this gene, was observed in PDB, whereas no rare variant or genetic association was found in the SOST gene.

  18. Quantitative genetic analysis of cellular adhesion molecules: the Fels Longitudinal Study.

    PubMed

    Lee, Miryoung; Czerwinski, Stefan A; Choh, Audrey C; Demerath, Ellen W; Sun, Shumei S; Chumlea, Wm C; Towne, Bradford; Siervogel, Roger M

    2006-03-01

    Circulating concentrations of inflammatory markers predict cardiovascular disease (CVD) risk and are closely associated with obesity. However, little is known concerning genetic influences on serum levels of inflammatory markers. In this study, we estimated the heritability (h2) of soluble cellular adhesion molecule (sCAM) concentrations and examined the correlational architecture between different sCAMs. The study population included 234 men and 270 women aged 18-76 years, belonging to 121 families participating in the Fels Longitudinal Study. Serum levels of soluble intercellular adhesion molecule-1 (sICAM-1), vascular cell adhesion molecule-1 (sVCAM-1), E-selectin (sESEL-1) and P-selectin (sPSEL-1) were assayed using commercially available kits. A variance components-based maximum likelihood method was used to estimate the h2 of the different serum inflammatory markers while simultaneously adjusting for the effects of known CVD risk factors, such as age and smoking. Additionally, we used bivariate extensions of these methods to estimate genetic and random environmental correlations among sCAMs. Levels of sCAMs were significantly heritable: h2=0.24+/-0.10 for sICAM-1, h2=0.22+/-0.10 for sVCAM-1, h2=0.50+/-0.11 for sESEL-1, and h2=0.46+/-0.10 for sPSEL-1. In addition, a significant genetic correlation (rho(G)=0.63) was found between sICAM-1 and sVCAM-1 indicating some degree of shared genetic control. In the Fels Longitudinal Study, the levels of four sCAMs are significantly influenced by genetic effects, and sICAM-1 shares a common genetic background with sVCAM-1.

  19. Linguistic, geographic and genetic isolation: a collaborative study of Italian populations.

    PubMed

    Capocasa, Marco; Anagnostou, Paolo; Bachis, Valeria; Battaggia, Cinzia; Bertoncini, Stefania; Biondi, Gianfranco; Boattini, Alessio; Boschi, Ilaria; Brisighelli, Francesca; Caló, Carla Maria; Carta, Marilisa; Coia, Valentina; Corrias, Laura; Crivellaro, Federica; De Fanti, Sara; Dominici, Valentina; Ferri, Gianmarco; Francalacci, Paolo; Franceschi, Zelda Alice; Luiselli, Donata; Morelli, Laura; Paoli, Giorgio; Rickards, Olga; Robledo, Renato; Sanna, Daria; Sanna, Emanuele; Sarno, Stefania; Sineo, Luca; Taglioli, Luca; Tagarelli, Giuseppe; Tofanelli, Sergio; Vona, Giuseppe; Pettener, Davide; Destro Bisol, Giovanni

    2014-01-01

    The animal and plant biodiversity of the Italian territory is known to be one of the richest in the Mediterranean basin and Europe as a whole, but does the genetic diversity of extant human populations show a comparable pattern? According to a number of studies, the genetic structure of Italian populations retains the signatures of complex peopling processes which took place from the Paleolithic to modern era. Although the observed patterns highlight a remarkable degree of genetic heterogeneity, they do not, however, take into account an important source of variation. In fact, Italy is home to numerous ethnolinguistic minorities which have yet to be studied systematically. Due to their difference in geographical origin and demographic history, such groups not only signal the cultural and social diversity of our country, but they are also potential contributors to its bio-anthropological heterogeneity. To fill this gap, research groups from four Italian Universities (Bologna, Cagliari, Pisa and Roma Sapienza) started a collaborative study in 2007, which was funded by the Italian Ministry of Education, University and Research and received partial support by the Istituto Italiano di Antropologia. In this paper, we present an account of the results obtained in the course of this initiative. Four case-studies relative to linguistic minorities from the Eastern Alps, Sardinia, Apennines and Southern Italy are first described and discussed, focusing on their micro-evolutionary and anthropological implications. Thereafter, we present the results of a systematic analysis of the relations between linguistic, geographic and genetic isolation. Integrating the data obtained in the course of the long-term study with literature and unpublished results on Italian populations, we show that a combination of linguistic and geographic factors is probably responsible for the presence of the most robust signatures of genetic isolation. Finally, we evaluate the magnitude of the diversity

  20. Linguistic, geographic and genetic isolation: a collaborative study of Italian populations.

    PubMed

    Capocasa, Marco; Anagnostou, Paolo; Bachis, Valeria; Battaggia, Cinzia; Bertoncini, Stefania; Biondi, Gianfranco; Boattini, Alessio; Boschi, Ilaria; Brisighelli, Francesca; Caló, Carla Maria; Carta, Marilisa; Coia, Valentina; Corrias, Laura; Crivellaro, Federica; De Fanti, Sara; Dominici, Valentina; Ferri, Gianmarco; Francalacci, Paolo; Franceschi, Zelda Alice; Luiselli, Donata; Morelli, Laura; Paoli, Giorgio; Rickards, Olga; Robledo, Renato; Sanna, Daria; Sanna, Emanuele; Sarno, Stefania; Sineo, Luca; Taglioli, Luca; Tagarelli, Giuseppe; Tofanelli, Sergio; Vona, Giuseppe; Pettener, Davide; Destro Bisol, Giovanni

    2014-01-01

    The animal and plant biodiversity of the Italian territory is known to be one of the richest in the Mediterranean basin and Europe as a whole, but does the genetic diversity of extant human populations show a comparable pattern? According to a number of studies, the genetic structure of Italian populations retains the signatures of complex peopling processes which took place from the Paleolithic to modern era. Although the observed patterns highlight a remarkable degree of genetic heterogeneity, they do not, however, take into account an important source of variation. In fact, Italy is home to numerous ethnolinguistic minorities which have yet to be studied systematically. Due to their difference in geographical origin and demographic history, such groups not only signal the cultural and social diversity of our country, but they are also potential contributors to its bio-anthropological heterogeneity. To fill this gap, research groups from four Italian Universities (Bologna, Cagliari, Pisa and Roma Sapienza) started a collaborative study in 2007, which was funded by the Italian Ministry of Education, University and Research and received partial support by the Istituto Italiano di Antropologia. In this paper, we present an account of the results obtained in the course of this initiative. Four case-studies relative to linguistic minorities from the Eastern Alps, Sardinia, Apennines and Southern Italy are first described and discussed, focusing on their micro-evolutionary and anthropological implications. Thereafter, we present the results of a systematic analysis of the relations between linguistic, geographic and genetic isolation. Integrating the data obtained in the course of the long-term study with literature and unpublished results on Italian populations, we show that a combination of linguistic and geographic factors is probably responsible for the presence of the most robust signatures of genetic isolation. Finally, we evaluate the magnitude of the diversity

  1. Is Applied Physics Embedded in Words Like Chitto, Seminole, Quito, Keitan, Iquitos, Caqueta, Katahdin, Qatar, Katmandu, and Willimantic?

    NASA Astrophysics Data System (ADS)

    Morgan, Kerianne; Mc Leod, Roger D.

    2007-10-01

    Chitto Tustenugee's final Seminole stronghold is now preserved in Miramar, Florida. It is profoundly active; its electromagnetic field, EMF, can be detected by methods readily accessible to the historic Seminole. They may have utilized information from it to avoid hurricanes and tornadoes. It also can yield information about future earthquakes. An anomalous earthquake 90 miles north of Guantanamo Bay, Cuba, was ``predicted'' by Mc Leod. The core concept here is that certain sites generate signals detectable by non-technologic societies, which seem to incorporate them into their world-views that include aspects of applied, practical physics. Keitan: A God, and Katahdin: Cathar stronghold, mountains in Maine, Iquitos: Island of the Cathars, is in Peru, reachable by sea-going vessels. Quito: Cathar, is in Ecuador. Caqueta: Church of the Cathar, is a tributary of the Amazon from Columbia. Chitto: Cathar, Qatar: Cathar. Is it even possible that Nepal's Katmandu, as Cathar doctor monk and Willimantic, doctor applied physicist at The God Spirit-signal, EMF, define similar individuals? What were the reasons why so many disparate groups, at different times, selected place-names or ``titles'' that have implicit, historic significance, involving natural phenomena?

  2. Deep burial dolomitization driven by plate collision: Evidence from strontium-isotopes of Jurassic Arab IV dolomites from offshore Qatar

    SciTech Connect

    Vahrenkamp, V.C.; Taylor, S.R. )

    1991-03-01

    The use of strontium-isotope ratios of dolomites to constrain timing and mechanism of diagenesis has been investigated on Jurassic Arab IV dolomites from offshore Qatar. Reservoir quality is determined by two types of dolomites, which were differentiated geochemically (cathodoluminescence, fluid inclusions, and carbon and oxygen stable isotopes): (1) stratigraphically concordant sucrosic dolomites with high porosity formed during early near-surface diagenesis (Jurassic) and (2) stratigraphically discordant cylindrical bodies of massive, porosity-destroying dolomites formed late during deep burial diagenesis (Eocene-Pliocene). Detailed Sr-isotope analysis of dolomites from the Arab IV confirms an Early Jurassic age of the sucrosic, high porosity dolomites ({sup 87}Sr/{sup 86}SR = 0.70707 for NBS 987 = 0.71024) with magnesium and strontium being derived from Jurassic seawater. Late Tertiary compressional orogeny of the Zagros belt to the north is proposed to have caused large-scale squeezing of fluids from the pore system of sedimentary rocks. A regional deep fluid flow system developed dissolving infra-Cambrian evaporites upflow and causing large-scale deep burial dolomitization downflow.

  3. Using game theory approach to interpret stable policies for Iran's oil and gas common resources conflicts with Iraq and Qatar

    NASA Astrophysics Data System (ADS)

    Esmaeili, Maryam; Bahrini, Aram; Shayanrad, Sepideh

    2015-08-01

    Oil and gas as the non-renewable resources are considered very valuable for the countries with petroleum economics. These resources are not only diffused equally around the world, but also they are common in some places which their neighbors often come into conflicts. Consequently, it is vital for those countries to manage their resource utilization. Lately, game theory was applied in conflict resolution of common resources, such as water, which is a proof of its efficacy and capability. This paper models the conflicts between Iran and its neighbors namely Qatar and Iraq between their oil and gas common resources using game theory approach. In other words, the future of these countries will be introduced and analyzed by some well-known 2 × 2 games to achieve a better perspective of their conflicts. Because of information inadequacy of the players, in addition to Nash Stability, various solution concepts are used based on the foresight, disimprovements, and knowledge of preferences. The results of mathematical models show how the countries could take a reasonable strategy to exploit their common resources.

  4. Novel Approaches to Studying the Genetic Basis of Cerebellar Development

    PubMed Central

    Sajan, Samin A.; Waimey, Kathryn E.

    2010-01-01

    The list of genes that when mutated cause disruptions in cerebellar development is rapidly increasing. The study of both spontaneous and engineered mouse mutants has been essential to this progress, as it has revealed much of our current understanding of the developmental processes required to construct the mature cerebellum. Improvements in brain imaging, such as magnetic resonance imaging (MRI) and the emergence of better classification schemes for human cerebellar malformations, have recently led to the identification of a number of genes which cause human cerebellar disorders. In this review we argue that synergistic approaches combining classical molecular techniques, genomics, and mouse models of human malformations will be essential to fuel additional discoveries of cerebellar developmental genes and mechanisms. PMID:20387026

  5. Cystathionine γ-lyase: clinical, metabolic, genetic, and structural studies

    PubMed Central

    Kraus, Jan P.; Hašek, Jindrich; Kožich, Viktor; Collard, Renata; Venezia, Sarah; Janošíková, Bohumila; Wang, Jian; Stabler, Sally P.; Allen, Robert H.; Jakobs, Cornelis; Finn, Christine T.; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hegele, Robert A.; Mudd, S. Harvey

    2009-01-01

    We report studies of six individuals with marked elevations of cystathionine in plasma and/or urine. Studies of CTH, the gene that encodes cystathionine γ-lyase, revealed the presence among these individuals of either homozygous or compound heterozygous forms of a novel large deletion, p.Gly57_Gln196del, two novel missense mutations, c.589C>T (p.Arg197Cys) and c.932C>T (p.Thr311Ile), and one previously reported alteration, c.200C>T (p.Thr67Ile). Another novel missense mutation, c.185G>T (p.Arg62His), was found in heterozygous form in three mildly hypercystathioninemic members of a Taiwanese family. In one severely hypercystathioninemic individual no CTH mutation was found. Brief clinical histories of the cystathioninemic/cystathioninuric patients are presented. Most of the novel mutations were expressed and the CTH activities of the mutant proteins determined. The crystal structure of the human enzyme, hCTH, and the evidence available as to the effects of the mutations in question, as well as those of the previously reported p.Gln240Glu, on protein structure, enzymatic activity, and responsiveness to vitamin B6 administration are discussed. Among healthy Czech controls, 9.3% were homozygous for CTH c.1208G>T (p.Ser403Ile), previously found homozygously in 7.5% of Canadians for whom plasma total homocysteine (tHcy) had been measured. Compared to wild-type homozygotes, among the 55 Czech c.1208G>T (p.Ser403Ile) homozygotes a greater level of plasma cystathionine was found only after methionine loading. Three of the four individuals homozygous or compound heterozygous for inactivating CTH mutations had mild plasma tHcy elevations, perhaps indicating a cause-and-effect relationship. The experience with the present patients provides no evidence that severe loss of CTH activity is accompanied by adverse clinical effects. PMID:19428278

  6. The dark side of friends: a genetically informed study of victimization within early adolescents' friendships.

    PubMed

    Brendgen, Mara; Girard, Alain; Vitaro, Frank; Dionne, Ginette; Boivin, Michel

    2015-01-01

    Using a genetically informed twin design, this study examined (a) whether, in line with gene-environment correlation (rGE), a genetic disposition for anxiety puts children at risk of being victimized by a close friend or by other peers, and (b) whether, in line with gene-environment interaction (GxE), victimization by a close friend or by other peers moderates the expression of a genetic disposition for anxiety. Participants were 268 monozygotic and dizygotic twin pairs (MZ males = 71, MZ females = 80, DZ males = 56, DZ females = 61; 87% of European descent) assessed via questionnaires in Grade 8 (M age = 14.06 years, SD = 3.60). Participants reported about their victimization by a close friend and by other peers and their anxiety level. Victimization by a close friend and victimization by other peers were uncorrelated. In line with rGE, genetic factors related to anxiety predicted victimization by other peers, whereas victimization by a close friend was not predicted by heritable characteristics. Moreover, in line with a suppression process of GxE, victimization by other peers reduced the role of genetic factors in explaining interindividual differences in anxiety. In contrast, in line with a diathesis-stress process of GxE, victimization by a close friend fostered the expression of a genetic disposition for anxiety. Victimization by a close friend seems to happen to adolescents regardless of their personal, heritable characteristics. If it does occur, however, it is a source of distress mostly for youth with a genetic vulnerability for anxiety.

  7. Evidence for shared genetic risk between ADHD symptoms and reduced mathematics ability: a twin study

    PubMed Central

    Greven, Corina U.; Kovas, Yulia; Willcutt, Erik G.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Background Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Methods Data came from more than 6,000 12-year-old twin pairs from the U.K. population-representative Twins Early Development Study. Parents rated each twin’s behaviour using a DSM-IV-based 18-item questionnaire of inattentive and hyperactive-impulsive ADHD symptoms. Mathematics tests based on the U.K. National Curriculum were completed by each twin. The twins also completed standardised tests of reading and general cognitive ability. Multivariate twin model fitting was applied. Results Inattentive and hyperactive-impulsive ADHD symptoms were highly heritable (67% and 73%, respectively). Mathematics ability was moderately heritable (46%). Mathematics ability and inattentiveness showed a significantly greater phenotypic correlation (rp=−0.26) and genetic correlation (rA=−0.41) than mathematics ability and hyperactivity-impulsivity (rp=−0.18; rA=−0.22). The genetic correlation between inattentiveness and mathematics ability was largely independent from hyperactivity-impulsivity, and was only partially accounted for by genetic influences related to reading and general cognitive ability. Conclusions Results revealed the novel finding that mathematics ability shows significantly stronger phenotypic and genetic associations with inattentiveness than with hyperactivity-impulsivity. Genetic associations between inattentiveness and mathematics ability could only partially be accounted for by hyperactivity-impulsivity, reading and general cognitive ability. Results suggest that mathematics ability is associated with ADHD symptoms largely because it shares genetic risk factors with inattentiveness, and provide further evidence for considering inattentiveness and hyperactivity-impulsivity separately. DNA markers for ADHD symptoms (especially inattentiveness) may also

  8. Comparative use of InDel and SSR markers in deciphering the interspecific structure of cultivated citrus genetic diversity: a perspective for genetic association studies.

    PubMed

    García-Lor, Andrés; Luro, François; Navarro, Luis; Ollitrault, Patrick

    2012-01-01

    Genetic stratification associated with domestication history is a key parameter for estimating the pertinence of genetic association study within a gene pool. Previous molecular and phenotypic studies have shown that most of the diversity of cultivated citrus results from recombination between three main species: C. medica (citron), C. reticulata (mandarin) and C. maxima (pummelo). However, the precise contribution of each of these basic species to the genomes of secondary cultivated species, such as C. sinensis (sweet orange), C. limon (lemon), C. aurantium (sour orange), C. paradisi (grapefruit) and recent hybrids is unknown. Our study focused on: (1) the development of insertion-deletion (InDel) markers and their comparison with SSR markers for use in genetic diversity and phylogenetic studies; (2) the analysis of the contributions of basic taxa to the genomes of secondary species and modern cultivars and (3) the description of the organisation of the Citrus gene pool, to evaluate how genetic association studies should be done at the cultivated Citrus gene pool level. InDel markers appear to be better phylogenetic markers for tracing the contributions of the three ancestral species, whereas SSR markers are more useful for intraspecific diversity analysis. Most of the genetic organisation of the Citrus gene pool is related to the differentiation between C. reticulata, C. maxima and C. medica. High and generalised LD was observed, probably due to the initial differentiation between the basic species and a limited number of interspecific recombinations. This structure precludes association genetic studies at the genus level without developing additional recombinant populations from interspecific hybrids. Association genetic studies should also be affordable at intraspecific level in a less structured pool such as C. reticulata. PMID:22160318

  9. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

    PubMed Central

    Cleynen, Isabelle; Boucher, Gabrielle; Jostins, Luke; Schumm, L Philip; Zeissig, Sebastian; Ahmad, Tariq; Andersen, Vibeke; Andrews, Jane M; Annese, Vito; Brand, Stephan; Brant, Steven R; Cho, Judy H; Daly, Mark J; Dubinsky, Marla; Duerr, Richard H; Ferguson, Lynnette R; Franke, Andre; Gearry, Richard B; Goyette, Philippe; Hakonarson, Hakon; Halfvarson, Jonas; Hov, Johannes R; Huang, Hailang; Kennedy, Nicholas A; Kupcinskas, Limas; Lawrance, Ian C; Lee, James C; Satsangi, Jack; Schreiber, Stephan; Théâtre, Emilie; van der Meulen-de Jong, Andrea E; Weersma, Rinse K; Wilson, David C; Parkes, Miles; Vermeire, Severine; Rioux, John D; Mansfield, John; Silverberg, Mark S; Radford-Smith, Graham; McGovern, Dermot P B; Barrett, Jeffrey C; Lees, Charlie W

    2016-01-01

    Summary Background Crohn's disease and ulcerative colitis are the two major forms of inflammatory bowel disease; treatment strategies have historically been determined by this binary categorisation. Genetic studies have identified 163 susceptibility loci for inflammatory bowel disease, mostly shared between Crohn's disease and ulcerative colitis. We undertook the largest genotype association study, to date, in widely used clinical subphenotypes of inflammatory bowel disease with the goal of further understanding the biological relations between diseases. Methods This study included patients from 49 centres in 16 countries in Europe, North America, and Australasia. We applied the Montreal classification system of inflammatory bowel disease subphenotypes to 34 819 patients (19 713 with Crohn's disease, 14 683 with ulcerative colitis) genotyped on the Immunochip array. We tested for genotype–phenotype associations across 156 154 genetic variants. We generated genetic risk scores by combining information from all known inflammatory bowel disease associations to summarise the total load of genetic risk for a particular phenotype. We used these risk scores to test the hypothesis that colonic Crohn's disease, ileal Crohn's disease, and ulcerative colitis are all genetically distinct from each other, and to attempt to identify patients with a mismatch between clinical diagnosis and genetic risk profile. Findings After quality control, the primary analysis included 29 838 patients (16 902 with Crohn's disease, 12 597 with ulcerative colitis). Three loci (NOD2, MHC, and MST1 3p21) were associated with subphenotypes of inflammatory bowel disease, mainly disease location (essentially fixed over time; median follow-up of 10·5 years). Little or no genetic association with disease behaviour (which changed dramatically over time) remained after conditioning on disease location and age at onset. The genetic risk score representing all known risk alleles for

  10. Genetic study of neurexin and neuroligin genes in Alzheimer's disease.

    PubMed

    Martinez-Mir, Amalia; González-Pérez, Antonio; Gayán, Javier; Antúnez, Carmen; Marín, Juan; Boada, Mercé; Lopez-Arrieta, Jesús María; Fernández, Evaristo; Ramírez-Lorca, Reposo; Sáez, María Eugenia; Ruiz, Agustín; Scholl, Francisco G; Real, Luis Miguel

    2013-01-01

    The interaction between neurexins and neuroligins promotes the formation of functional synaptic structures. Recently, it has been reported that neurexins and neuroligins are proteolytically processed by presenilins at synapses. Based on this interaction and the role of presenilins in familial Alzheimer's disease (AD), we hypothesized that dysfunction of the neuroligin-neurexin pathway might be associated with AD. To explore this hypothesis, we carried out a meta-analysis of five genome-wide association studies (GWAS) comprising 1, 256 SNPs in the NRXN1, NRXN2, NRXN3, and NLGN1 genes (3,009 cases and 3,006 control individuals). We identified a marker in the NRXN3 gene (rs17757879) that showed a consistent protective effect in all GWAS, however, the statistical significance obtained did not resist multiple testing corrections (OR = 0.851, p = 0.002). Nonetheless, gender analysis revealed that this effect was restricted to males. A combined meta-analysis of the former five GWAS together with a replication Spanish sample consisting of 1,785 cases and 1,634 controls confirmed this observation (rs17757879, OR = 0.742, 95% CI = 0.632-0.872, p = 0.00028, final meta-analysis). We conclude that NRXN3 might have a role in susceptibility to AD in males.

  11. Genetic studies on cytoplasmic male sterility in maize

    SciTech Connect

    Laughnan, J.R.

    1992-01-01

    Our research concerns the basic mechanisms of cytoplasmic male sterility (CMS) and fertility restoration in maize. The molecular determination of CMS is in the DNA of the mitochondria (mtDNA) but specific nuclear restorer-of-fertility (Rf) genes can overrule the male-sterile effect of the cytoplasm. Our approach to the study of the Rf genes is threefold. We are attempting to tag the cms-S Rf genes and the cms-T Rf2 gene with controlling elements (CEs). Since we have identified a number of spontaneous Rf genes for cms-S and have demonstrated that they are themselves transposable, we are also searching for cases in which an Rf gene is inserted into a wild-type gene. The other aspect of our research involves the nuclear control over the organization of the mitochondrial genome. We found that the changes in mtDNA organization upon cytoplasmic reversion to fertility were characteristic of the nuclear background in which the reversion event occurred. We have investigated whether these differences are a reflection of differences in the organization of the mtDNA genome before reversion.

  12. Clinical and genetic studies of fatal familial insomnia.

    PubMed

    Reder, A T; Mednick, A S; Brown, P; Spire, J P; Van Cauter, E; Wollmann, R L; Cervenàkovà, L; Goldfarb, L G; Garay, A; Ovsiew, F

    1995-06-01

    We report a 42-year-old man who, for 8 months, had intermittent motor abnormalities and mild difficulty falling asleep. A diagnosis of fatal familial insomnia (FFI) became evident over the next 6 months when he developed progressive insomnia, myoclonus, sympathetic hyperactivity, and dementia. The amyloid or prion protein (PrP) genotype showed features typically seen in FFI, with a 178Asn mutation and a 129Met polymorphism. There was also a deletion of one octapeptide repeat, suggesting that the association of 178Asn mutation with the 129Met polymorphism is not due to "founder effect." Western immunoblot showed a trace of protease-resistant PrP in the thalamus--which had the most significant neuronal loss and gliosis--a moderate amount of PrP in the fronto-temporal area, and no detectable protein elsewhere in the brain. Endocrine studies showed that a circadian modulation of hormonal levels could be maintained despite a near-total absence of sleep. Administration of gamma-hydroxybutyrate induced a remarkable increase in slow-wave sleep.

  13. STrengthening the REporting of Genetic Association studies (STREGA) – an extension of the STROBE statement

    PubMed Central

    Little, Julian; Higgins, Julian PT; Ioannidis, John PA; Moher, David; Gagnon, France; von Elm, Erik; Khoury, Muin J; Cohen, Barbara; Davey-Smith, George; Grimshaw, Jeremy; Scheet, Paul; Gwinn, Marta; Williamson, Robin E; Zou, Guang Yong; Hutchings, Kim; Johnson, Candice Y; Tait, Valerie; Wiens, Miriam; Golding, Jean; van Duijn, Cornelia; McLaughlin, John; Paterson, Andrew; Wells, George; Fortier, Isabel; Freedman, Matthew; Zecevic, Maja; King, Richard; Infante-Rivard, Claire; Stewart, Alex; Birkett, Nick

    2009-01-01

    Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the STrengthening the Reporting of OBservational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy–Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed, but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct or analysis. PMID:19297801

  14. Molecular Genetic Studies of Gene Identification for Osteoporosis: A 2004 Update

    PubMed Central

    Liu, Yong-Jun; Shen, Hui; Xiao, Peng; Xiong, Dong-Hai; Li, Li-Hua; Recker, Robert R; Deng, Hong-Wen

    2007-01-01

    This review summarizes comprehensively the most important and representative molecular genetics studies of gene identification for osteoporosis published up to the end of December 2004. It is intended to constitute a sequential update of our previously published review covering the available data up to the end of 2002. Evidence from candidate gene association studies and genome-wide linkage studies in humans, as well as quantitative trait locus mapping animal models are reviewed separately. Studies of transgenic and knockout mice models relevant to osteoporosis are summarized. An important extension of this update is incorporation of functional genomic studies (including DNA microarrays and proteomics) on osteogenesis and osteoporosis, in light of the rapid advances and the promising prospects of the field. Comments are made on the most notable findings and representative studies for their potential influence and implications on our present understanding of genetics of osteoporosis. The format adopted by this review should be ideal for accommodating future new advances and studies. PMID:16995806

  15. A simulation study of the genetic regulatory hierarchy for butterfly eyespot focus determination.

    PubMed

    Evans, Travis M; Marcus, Jeffrey M

    2006-01-01

    The color patterns on the wings of butterflies have been an important model system in evolutionary developmental biology. Two types of models have been used to study these patterns. The first type of model employs computational techniques and generalized mechanisms of pattern formation to make predictions about how color patterns will vary as parameters of the model are changed. These generalized mechanisms include diffusion gradient, reaction-diffusion, lateral inhibition, and threshold responses. The second type of model uses known genetic interactions from Drosophila melanogaster and patterns of candidate gene expression in one of several butterfly species (most often Junonia (Precis) coenia or Bicyclus anynana) to propose specific genetic regulatory hierarchies that appear to be involved in color pattern formation. This study combines these two approaches using computational techniques to test proposed genetic regulatory hierarchies for the determination of butterfly eyespot foci (also known as border ocelli foci). Two computer programs, STELLA 8.1 and Delphi 2.0, were used to simulate the determination of eyespot foci. Both programs revealed weaknesses in a genetic model previously proposed for eyespot focus determination. On the basis of these simulations, we propose two revised models for eyespot focus determination and identify components of the genetic regulatory hierarchy that are particularly sensitive to changes in model parameter values. These components may play a key role in the evolution of butterfly eyespots. Simulations like these may be useful tools for the study of other evolutionary developmental model systems and reveal similar sensitive components of the relevant genetic regulatory hierarchies. PMID:16686638

  16. Twin Studies and Their Implications for Molecular Genetic Studies: Endophenotypes Integrate Quantitative and Molecular Genetics in ADHD Research

    ERIC Educational Resources Information Center

    Wood, Alexis C.; Neale, Michael C.

    2010-01-01

    Objective: To describe the utility of twin studies for attention-deficit/hyperactivity disorder (ADHD) research and demonstrate their potential for the identification of alternative phenotypes suitable for genomewide association, developmental risk assessment, treatment response, and intervention targets. Method: Brief descriptions of the classic…

  17. Arsenite cocarcinogenesis: an animal model derived from genetic toxicology studies.

    PubMed

    Rossman, Toby G; Uddin, Ahmed N; Burns, Fredric J; Bosland, Maarten C

    2002-10-01

    Although epidemiologic evidence shows an association between inorganic arsenic in drinking water and increased risk of skin, lung, and bladder cancers, no animal model for arsenic carcinogenesis has been successful. This lack has hindered mechanistic studies of arsenic carcinogenesis. Previously, we and others found that low concentrations (< or =5 microm) of arsenite (the likely environmental carcinogen), which are not mutagenic, can enhance the mutagenicity of other agents, including ultraviolet radiation (UVR) and alkylating agents. This enhancing effect appears to result from inhibition of DNA repair by arsenite, but not via inhibition of DNA repair enzymes. Rather, low concentrations of arsenite disrupt p53 function and upregulate cyclin D1. Failure to find an animal model for arsenic carcinogenesis might be because arsenite is not a carcinogen per se but acts as an enhancing agent (cocarcinogen) with a genotoxic partner. We tested this hypothesis with solar UVR in hairless but immunocompetent Skh1 mice. Mice were given 10 mg/L sodium arsenite in drinking water (or not) and irradiated with 1.7 KJ/m(2) solar UVR 3 times weekly. As expected, no tumors appeared in any organs in control mice or in mice given arsenite alone. After 26 weeks irradiated mice given arsenite had a 2.4-fold increase in skin tumor yield compared with mice given UVR alone. The tumors were mostly squamous cell carcinomas, and those occurring in mice given UVR plus arsenite were much larger and more invasive. These results are consistent with the hypothesis that arsenic acts as a cocarcinogen with a second (genotoxic) agent by inhibiting DNA repair and/or enhancing positive growth signaling. Skin cancers in populations drinking water containing arsenic may be caused by the enhancement by arsenic compounds of carcinogenesis induced by UVR (or other environmental agents). It is possible that lung and bladder cancers associated with arsenic in drinking water may also require a carcinogenic

  18. (Studies of the genetic regulation of the Thermomonospora cellulase complex)

    SciTech Connect

    Wilson, D.B.

    1992-01-01

    The goals of this project are to determine the molecular mechanisms regulating cellulose synthesis in the soil bacterium Thermomonosporafusca and to determine the molecular mechanism by which T.fusca cellulases degrade crystalline cellulose. We have determined a structure for the T.fusca E{sub 2} catalytic subunit (E{sub 2}-30) by x-ray crystallography. This structure is quite similar to that of T.reesei CBHU but there are a number of differences. One is that the E{sub 2} active site is in a cleft while that of CBHII is in a tunnel. This is an expected result since E{sub 2} is an endocellulase. Large amounts of homogenous E{sub 5} catalytic subunit have been prepared and attempts to crystallize it are underway. Crystals of E{sub 2}-30 were soaked in cellobiose and modified crystals detracted well, however difference Fourier analysis showed many changes, so that we could not localize cellobiose in the 3-D structure of E{sub 2}-30. This implies that binding of cellobiose causes a significant change in the structure of E{sub 2}-30. The stereochemistry of the cleavage catalyzed by E{sub l}, E{sub 2} and E{sub 5} was determined in collaboration with Dr. Stephen Withers and E{sub 1} and 2 inverted the glycoside linkage while E{sub 5} does not. The entire E{sub l} and E{sub 4} genes have been induced into Streptomyces lividans where they are expressed at a high level and the E{sub l} and E{sub 4} are completely secreted into the medium. Studies on the synergism between the exocellulase E{sub 3} and the endocellulases E{sub 2} or E{sub 5} show that both exo and endocellulase activities are stimulated when they are assayed together.

  19. A genetic study and meta-analysis of the genetic predisposition of prostate cancer in a Chinese population

    PubMed Central

    Zhao, Shan-Chao; Ren, Guoping; Yu, Yongwei; Wu, Yudong; Wu, Ji; Xue, Yao; Zhou, Bo; Zhang, Yanling; Xu, Xingxing; Li, Jie; He, Weiyang; Benlloch, Sara; Ross-Adams, Helen; Chen, Li; Li, Jucong; Hong, Yingqia; Kote-Jarai, Zsofia; Cui, Xingang; Hou, Jianguo; Guo, Jianming; Xu, Lei; Yin, Changjun; Zhou, Yuanping; Neal, David E.; Oliver, Tim; Cao, Guangwen; Zhang, Zhengdong; Easton, Douglas F.; Chelala, Claude; Olama, Ali Amin Al; Eeles, Rosalind A.; Zhang, Hongwei; Lu, Yong-Jie

    2016-01-01

    Prostate cancer predisposition has been extensively investigated in European populations, but there have been few studies of other ethnic groups. To investigate prostate cancer susceptibility in the under-investigated Chinese population, we performed single-nucleotide polymorphism (SNP) array analysis on a cohort of Chinese cases and controls and then meta-analysis with data from the existing Chinese prostate cancer genome-wide association study (GWAS). Genotyping 211,155 SNPs in 495 cases and 640 controls of Chinese ancestry identified several new suggestive Chinese prostate cancer predisposition loci. However, none of them reached genome-wide significance level either by meta-analysis or replication study. The meta-analysis with the Chinese GWAS data revealed that four 8q24 loci are the main contributors to Chinese prostate cancer risk and the risk alleles from three of them exist at much higher frequencies in Chinese than European populations. We also found that several predisposition loci reported in Western populations have different effect on Chinese men. Therefore, this first extensive single-nucleotide polymorphism study of Chinese prostate cancer in comparison with European population indicates that four loci on 8q24 contribute to a great risk of prostate cancer in a considerable large proportion of Chinese men. Based on those four loci, the top 10% of the population have six- or two-fold prostate cancer risk compared with men of the bottom 10% or median risk respectively, which may facilitate the design of prostate cancer genetic risk screening and prevention in Chinese men. These findings also provide additional insights into the etiology and pathogenesis of prostate cancer. PMID:26881390

  20. An Exploratory Study of Employers' Attitudes Towards a Clinical Doctorate in Genetic Counseling.

    PubMed

    Valverde, Kathleen; Mueller, Rebecca; Paciotti, Breah; Conway, Laura

    2016-02-01

    Creation of an advanced degree in genetic counseling has been considered since the early 1980s. The Genetic Counseling Advanced Degree Task Force (GCADTF) was convened in 2012 to formally explore the potential suitability of a clinical doctorate (ClinD), though employer perspectives of advanced training were not part of the discussion. The conclusion of this group was that the field was not ready to move to an entry-level clinical doctorate at this time but that further education and research among other stakeholders was necessary (Nagy et al. 2014). In this study, we describe employers' perspectives on developing a clinical doctorate in genetic counseling based upon thirty audio-recorded semi-structured phone interviews that were transcribed verbatim and qualitatively analyzed. Overall, employers expressed concerns regarding the economic viability of ClinD training but envisioned expanded roles for genetic counselors (especially in areas of education and research) and enhanced credibility. While some employers reported that they would provide flexibility and tuition assistance for acquisition of a ClinD, for many employers, support was contingent on perceived value of the degree. Some employers were not clear about the difference between a ClinD and a PhD, suggesting that there is a need for educating employers about advanced degree options for the genetic counseling field. Future research could include investigating employer attitudes about market needs, envisioned roles, and compensation formulas for counselors with a ClinD or other forms of advanced training.

  1. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.

    PubMed

    Paneque, Milena; Sequeiros, Jorge; Skirton, Heather

    2015-11-01

    Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice.

  2. Genome-wide Association Study of Dermatomyositis Reveals Genetic Overlap with other Autoimmune Disorders

    PubMed Central

    Miller, Frederick W.; Cooper, Robert G.; Vencovsky, Jiri; Rider, Lisa G.; Danko, Katalin; Wedderburn, Lucy R.; Lundberg, Ingrid E.; Pachman, Lauren M.; Reed, Ann M.; Ytterberg, Steven R.; Padyukov, Leonid; Selva-O’Callaghan, Albert; Radstake, Timothy; Isenberg, David A.; Chinoy, Hector; Ollier, William E. R.; O’Hanlon, Terrance P.; Peng, Bo; Lee, Annette; Lamb, Janine A.; Chen, Wei; Amos, Christopher I.; Gregersen, Peter K.

    2014-01-01

    Objective To identify new genetic associations with juvenile and adult dermatomyositis (DM). Methods We performed a genome-wide association study (GWAS) of adult and juvenile DM patients of European ancestry (n = 1178) and controls (n = 4724). To assess genetic overlap with other autoimmune disorders, we examined whether 141 single nucleotide polymorphisms (SNPs) outside the major histocompatibility complex (MHC) locus, and previously associated with autoimmune diseases, predispose to DM. Results Compared to controls, patients with DM had a strong signal in the MHC region consisting of GWAS-level significance (P < 5x10−8) at 80 genotyped SNPs. An analysis of 141 non-MHC SNPs previously associated with autoimmune diseases showed that three SNPs linked with three genes were associated with DM, with a false discovery rate (FDR) < 0.05. These genes were phospholipase C like 1 (PLCL1, rs6738825, FDR=0.00089), B lymphoid tyrosine kinase (BLK, rs2736340, FDR=0.00031), and chemokine (C-C motif) ligand 21 (CCL21, rs951005, FDR=0.0076). None of these genes was previously reported to be associated with DM. Conclusion Our findings confirm the MHC as the major genetic region associated with DM and indicate that DM shares non-MHC genetic features with other autoimmune diseases, suggesting the presence of additional novel risk loci. This first identification of autoimmune disease genetic predispositions shared with DM may lead to enhanced understanding of pathogenesis and novel diagnostic and therapeutic approaches. PMID:23983088

  3. Understanding genetic disease in a socio-historical context: a case study of cystic fibrosis.

    PubMed

    Kerr, Anne

    2005-11-01

    In this article I present a socio-historical analysis of the definition and diagnosis of one particular genetic disease--cystic fibrosis (CF)--in an effort the better to understand its social context both before and after the advent of molecular genetics. I begin my analysis with some background on the history of CF, before moving on to consider the emergence of the notion of classic CF, the development of the sweat test, early approaches to mild or variant forms of CF, the concept of CF as a genetic disease, the concept of CF as a collection of related disorders, and developments in the understanding and diagnosis of CF which came about in the wake of molecular genetics. I highlight a range of technological, professional and patient developments and how these stimulated new research, typologies and clinical tools. I also consider how different notions of CF were mobilised, either to support or undermine a particular approach to diagnosis or treatment, and consider how the dynamic and contextual characteristics of CF were accounted for by scientists and clinicians with an interest in CF. I end by discussing the implications of my analysis for the contemporary sociology of genetics, and related studies in the sociology of medicine more generally.

  4. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

    PubMed

    Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen

    2013-02-15

    Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome.

  5. A scientific project locked in time. The Terman Genetic Studies of Genius, 1920s-1950s.

    PubMed

    Cravens, H

    1992-02-01

    Lewis M. Terman is well-known in the history of American psychology for the Stanford Revision of the Binet-Simon intelligence tests and the Genetic Studies of Genius project. The same assumptions informed the genius project and Terman's work in intelligence testing: the notion of the fixity of the IQ at birth and the maturation theory. According to the maturation theory, individuals developed only within the range of differences made possible by the genetic endowment of the "group"--natural, cultural, or both--to which they belonged. In this article the historicity and nonuniversality of Terman's work is discussed.

  6. [Genetics of obesity and metabolic complications in the Quebec Family Study].

    PubMed

    Pérusse, Louis; Bouchard, Claude

    2003-10-01

    Considerable progress has been accomplished over the past 10 years in the understanding of the genetic basis of obesity and its related metabolic complications. It is now well established that obesity aggregates within families and that genes are partly responsible for this familial aggregation. The number of genes potentially involved in obesity continues to grow. This review summarizes the evidence accumulated so for regarding the contribution of genetic factors in obesity and the number of gene and loci linked to obesity in the Quebec Family Study.

  7. Studies of Genetic Variation of Essential Oil and Alkaloid Content in Boldo (Peumus boldus).

    PubMed

    Vogel, H; Razmilic, I; Muñoz, M; Doll, U; Martin, J S

    1999-02-01

    Boldo is a tree or shrub with medicinal properties native to Chile. The leaves contain alkaloids and essential oils. Variation of total alkaloid concentration, of the alkaloid boldine, and essential oil components were studied in different populations from northern, central, and southern parts of its geographic range and in their progenies (half-sib families). Total alkaloid concentration showed genetic variation between progenies of the central population but not between populations. Boldine content found in concentrations of 0.007 to 0.009% did not differ significantly between populations. Principal components of the essential oil were determined genetically, with highest values for ascaridole in the population of the north and for P-cymene in the south. Between half-sib families genetic variation was found in the central and northern populations for these components. The high heritability coefficients found indicate considerable potential for successful selection of individuals for these characters. PMID:17260243

  8. The genetic and environmental basis of the relationship between schizotypy and personality: a twin study.

    PubMed

    Jang, Kerry L; Woodward, Todd S; Lang, Donna; Honer, William G; Livesley, W John

    2005-03-01

    The clinical phenotype commonly referred to as schizotypy is used in two different ways in psychiatric practice. One usage emphasizes psychosis-proneness where schizotypy is considered part of the schizophrenia spectrum. The other emphasizes personality aberrations and is classed as a personality disorder. The present study provides evidence that schizotypy is a unitary construct and that features like schizophrenia and personality share a common genetic basis. A sample of 102 monozygotic and 90 dizygotic general population twin pairs completed measures of psychosis-proneness and traits delineating personality disorder. Multivariate genetic analyses showed that the observed relationship between psychotic and personality features is caused almost entirely by common genetic factors. Environmental factors appear to be unique to each measure. On the basis of these findings, it is suggested that the environment mediates change in personality function to psychosis as proposed by Meehl's original concept of schizotaxia.

  9. Mouse Models of Cancer: Sleeping Beauty Transposons for Insertional Mutagenesis Screens and Reverse Genetic Studies

    PubMed Central

    Tschida, Barbara R.; Largaespada, David A.; Keng, Vincent W.

    2014-01-01

    The genetic complexity and heterogeneity of cancer has posed a problem in designing rationally targeted therapies effective in a large proportion of human cancer. Genomic characterization of many cancer types has provided a staggering amount of data that needs to be interpreted to further our understanding of this disease. Forward genetic screening in mice using Sleeping Beauty (SB) based insertional mutagenesis is an effective method for candidate cancer gene discovery that can aid in distinguishing driver from passenger mutations in human cancer. This system has been adapted for unbiased screens to identify drivers of multiple cancer types. These screens have already identified hundreds of candidate cancer-promoting mutations. These can be used to develop new mouse models for further study, which may prove useful for therapeutic testing. SB technology may also hold the key for rapid generation of reverse genetic mouse models of cancer, and has already been used to model glioblastoma and liver cancer. PMID:24468652

  10. A Fluorescence-Based Genetic Screen to Study Retinal Degeneration in Drosophila

    PubMed Central

    Wang, Tao

    2015-01-01

    The Drosophila visual system has been proved to be a powerful genetic model to study eye disease such as retinal degeneration. Here, we describe a genetic method termed “Rh1::GFP ey-flp/hid” that is based on the fluorescence of GFP-tagged major rhodopsin Rh1 in the eyes of living flies and can be used to monitor the integrity of photoreceptor cells. Through combination of this method and ERG recording, we examined a collection of 667 mutants and identified 18 genes that are required for photoreceptor cell maintenance, photoresponse, and rhodopsin synthesis. Our findings demonstrate that this “Rh1::GFP ey-flp/hid” method enables high-throughput F1 genetic screens to rapidly and precisely identify mutations of retinal degeneration. PMID:26659849

  11. Safety assessment of rice genetically modified with soybean glycinin by feeding studies on rats.

    PubMed

    Momma, K; Hashimoto, W; Yoon, H J; Ozawa, S; Fukuda, Y; Kawai, S; Takaiwa, F; Utsumi, S; Murata, K

    2000-09-01

    Feeding studies on rice genetically modified with soybean glycinin were performed on rats for four weeks. The rats were divided into three groups, each being fed on (I) only a commercial diet, (II) this diet plus control rice and (III) this diet plus rice genetically modified with glycinin. The rats were fed with 10 g/kg-weight of rice every day by oral administration. During the test period, the rats in every group grew well without marked differences in appearance, food intake, body weight, or cumulative body weight gain. There were also no significant differences in the blood count, blood composition or internal organ weights among the rats. Necropsy at the end of the experiment indicated neither pathological symptoms nor histopathological abnormalities in the liver and kidney. Judging from these results, the rice genetically modified with glycinin is considered to have been essentially the same in nutritional and biochemical characteristics as the control rice.

  12. Systematic review of genetic association studies involving histologically confirmed non-alcoholic fatty liver disease

    PubMed Central

    Wood, Kayleigh L; Miller, Michael H; Dillon, John F

    2015-01-01

    Non-alcoholic fatty liver disease has an increasing prevalence in Western countries, affecting up to 20% of the population. Objective The aim of this project was to systematically review and summarise the genetic association studies that investigate possible genetic influences that confer susceptibility to non-alcoholic fatty liver disease and non-alcoholic steatohepatitis. Design The MEDLINE and SCOPUS databases were searched to identify candidate gene studies on histologically diagnosed non-alcoholic fatty liver disease. Results A total of 85 articles have been summarised and categorised on the basis of the general pathway each candidate gene is involved in, including lipid metabolism, lipoprotein processing, cholesterol synthesis, glucose homoeostasis, inflammatory response, protection against oxidative stress and whole body metabolism. Conclusions The main findings demonstrate a small but consistent association of PNPLA3 with non-alcoholic fatty liver disease and non-alcoholic steatohepatitis. Genetic association studies have investigated general disease susceptibility, histological characteristics, severity and progression. However, further study is required to better elucidate the genetic factors influencing fatty liver disease. PMID:26462272

  13. Aggressive Behavior between Siblings and the Development of Externalizing Problems: Evidence from a Genetically Sensitive Study

    ERIC Educational Resources Information Center

    Natsuaki, Misaki N.; Ge, Xiaojia; Reiss, David; Neiderhiser, Jenae M.

    2009-01-01

    This study investigated the prospective links between sibling aggression and the development of externalizing problems using a multilevel modeling approach with a genetically sensitive design. The sample consisted of 780 adolescents (390 sibling pairs) who participated in 2 waves of the Nonshared Environment in Adolescent Development project.…

  14. Thirty years of tick molecular population genetic studies: a comprehensive review

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Population genetic studies provide insights into the basic biology of arthropod disease vectors by estimating dispersal patterns and their potential to spread pathogens. In wingless vectors, such as ticks, gene flow will be defined in large part by the mobility of their hosts. However, tick behavior...

  15. The potential of large studies for building genetic risk prediction models

    Cancer.gov

    NCI scientists have developed a new paradigm to assess hereditary risk prediction in common diseases, such as prostate cancer. This genetic risk prediction concept is based on polygenic analysis—the study of a group of common DNA sequences, known as singl

  16. Integrating Genetic, Psychopharmacological and Neuroimaging Studies: A Converging Methods Approach to Understanding the Neurobiology of ADHD

    ERIC Educational Resources Information Center

    Durston, Sarah; Konrad, Kerstin

    2007-01-01

    This paper aims to illustrate how combining multiple approaches can inform us about the neurobiology of ADHD. Converging evidence from genetic, psychopharmacological and functional neuroimaging studies has implicated dopaminergic fronto-striatal circuitry in ADHD. However, while the observation of converging evidence from multiple vantage points…

  17. Genetic and Environmental Effects on Stuttering: A Twin Study from Finland

    ERIC Educational Resources Information Center

    Rautakoski, Pirkko; Hannus, Therese; Simberg, Susanna; Sandnabba, N. Kenneth; Santtila, Pekka

    2012-01-01

    The present study explored the prevalence of self-reported stuttering in a Finnish twin population and examined the extent to which the variance in liability to stuttering was attributable to genetic and environmental effects. We analyzed data of 1728 Finnish twins, born between 1961 and 1989. The participants were asked to complete a…

  18. Information Recall in Genetic Counselling: A Pilot Study of Its Assessment.

    ERIC Educational Resources Information Center

    Michie, Susan; French, David; Allanson, Abi; Bobrow, Martin; Marteau, Theresa M.

    1997-01-01

    Validity of using genetic counselors' reports of information given in consultations as a measure of patient recall was studied. Counselors' reports were compared with tape recordings and patient follow-up calls. Measures include patient expectations, patient anxiety, demographics, patient recall, patient-defined important information, and…

  19. Mitochondrial genomes of Bremia lactucae and development of haplotype markers for population and genetic studies

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Bremia lactucae, the causative agent of lettuce downy mildew, is the most important pathogen of lettuce in the US and worldwide. In order to identify cytoplasmic markers for use in population and genetic studies the reference mitochondrial genome of B. lactucae isolate SF5 was assembled from Illumi...

  20. Evidence for Shared Genetic Risk between ADHD Symptoms and Reduced Mathematics Ability: A Twin Study

    ERIC Educational Resources Information Center

    Greven, Corina U.; Kovas, Yulia; Willcutt, Erik G.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Background: Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Methods: Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents…

  1. Unraveling the genetic etiology of adult antisocial behavior: a genome-wide association study.

    PubMed

    Tielbeek, Jorim J; Medland, Sarah E; Benyamin, Beben; Byrne, Enda M; Heath, Andrew C; Madden, Pamela A F; Martin, Nicholas G; Wray, Naomi R; Verweij, Karin J H

    2012-01-01

    Crime poses a major burden for society. The heterogeneous nature of criminal behavior makes it difficult to unravel its causes. Relatively little research has been conducted on the genetic influences of criminal behavior. The few twin and adoption studies that have been undertaken suggest that about half of the variance in antisocial behavior can be explained by genetic factors. In order to identify the specific common genetic variants underlying this behavior, we conduct the first genome-wide association study (GWAS) on adult antisocial behavior. Our sample comprised a community sample of 4816 individuals who had completed a self-report questionnaire. No genetic polymorphisms reached genome-wide significance for association with adult antisocial behavior. In addition, none of the traditional candidate genes can be confirmed in our study. While not genome-wide significant, the gene with the strongest association (p-value = 8.7×10(-5)) was DYRK1A, a gene previously related to abnormal brain development and mental retardation. Future studies should use larger, more homogeneous samples to disentangle the etiology of antisocial behavior. Biosocial criminological research allows a more empirically grounded understanding of criminal behavior, which could ultimately inform and improve current treatment strategies. PMID:23077488

  2. Unraveling the Genetic Etiology of Adult Antisocial Behavior: A Genome-Wide Association Study

    PubMed Central

    Tielbeek, Jorim J.; Medland, Sarah E.; Benyamin, Beben; Byrne, Enda M.; Heath, Andrew C.; Madden, Pamela A. F.; Martin, Nicholas G.; Wray, Naomi R.; Verweij, Karin J. H.

    2012-01-01

    Crime poses a major burden for society. The heterogeneous nature of criminal behavior makes it difficult to unravel its causes. Relatively little research has been conducted on the genetic influences of criminal behavior. The few twin and adoption studies that have been undertaken suggest that about half of the variance in antisocial behavior can be explained by genetic factors. In order to identify the specific common genetic variants underlying this behavior, we conduct the first genome-wide association study (GWAS) on adult antisocial behavior. Our sample comprised a community sample of 4816 individuals who had completed a self-report questionnaire. No genetic polymorphisms reached genome-wide significance for association with adult antisocial behavior. In addition, none of the traditional candidate genes can be confirmed in our study. While not genome-wide significant, the gene with the strongest association (p-value = 8.7×10−5) was DYRK1A, a gene previously related to abnormal brain development and mental retardation. Future studies should use larger, more homogeneous samples to disentangle the etiology of antisocial behavior. Biosocial criminological research allows a more empirically grounded understanding of criminal behavior, which could ultimately inform and improve current treatment strategies. PMID:23077488

  3. The Genetic and Environmental Etiology of Decision-Making: A Longitudinal Twin Study

    ERIC Educational Resources Information Center

    Tuvblad, Catherine; Gao, Yu; Wang, Pan; Raine, Adrian; Botwick, Theodore; Baker, Laura A.

    2013-01-01

    The present study examined the genetic and environmental etiology of decision-making (Iowa Gambling Task; Bechara, Damasio, Damasio, & Anderson, 1994), in a sample of twins at ages 11-13, 14-15, and 16-18 years. The variance across five 20-trial blocks could be explained by a latent "decision-making" factor within each of the three times of IGT…

  4. Strong Genetic Contribution to Peer Relationship Difficulties at School Entry: Findings from a Longitudinal Twin Study

    ERIC Educational Resources Information Center

    Boivin, Michel; Brendgen, Mara; Vitaro, Frank; Dionne, Ginette; Girard, Alain; Perusse, Daniel; Tremblay, Richard E.

    2013-01-01

    This study assessed the genetic and environmental contributions to peer difficulties in the early school years. Twins' peer difficulties were assessed longitudinally in kindergarten (796 twins, "M"[subscript age] = 6.1 years), Grade 1 (948 twins, "M"[subscript age] = 7.1 years), and Grade 4 (868 twins, "M"[subscript age] = 10 years) through…

  5. A curious genetic coincidence found in a study of palmoplantar keratoderma.

    PubMed

    Gamborg Nielsen, P

    1983-01-01

    In a study of hereditary palmoplantar keratoderma of the Unna Thost variety in the northernmost county of Sweden (Norrbotten) a genetic coincident between this inherited disorder and the autosomal dominant form of ichthyosis vulgaris was found. In the same family a patient with ichthyosis vulgaris combined with palmoplantar hyperkeratosis and hyperkeratotic plaques on the knees and the elbows appeared.

  6. Longitudinal Genetic Study of Verbal and Nonverbal IQ from Early Childhood to Young Adulthood

    ERIC Educational Resources Information Center

    Hoekstra, Rosa A.; Bartels, Meike; Boomsma, Dorret I.

    2007-01-01

    In a longitudinal genetic study we explored which factors underlie stability in verbal and nonverbal abilities, and the extent to which the association between these abilities becomes stronger as children grow older. Measures of verbal and nonverbal IQ were collected in Dutch twin pairs at age 5, 7, 10, 12 and 18 years. The stability of both…

  7. A Study to Evaluate Genetic Predictors of Aromatase Inhibitor Musculoskeletal Symptoms (AIMSS) | Division of Cancer Prevention

    Cancer.gov

    E1Z11 is a study to determine whether certain genetic information can predict which breast cancer patients will discontinue treatment with AIs due to the development of musculoskeletal symptoms (MSS). Women with stage 1-111 breast cancer who are prescribed the aromatase inhibitor anastrozole as treatment may join. |

  8. A twin-study of genetic contributions to morningness–eveningness and depression

    PubMed Central

    Toomey, Rosemary; Panizzon, Matthew S.; Kremen, William S.; Franz, Carol E.; Lyons, Michael J.

    2016-01-01

    Circadian rhythms are associated with the preference for sleep–wake timing, also known as morningness–eveningness (ME). Both circadian rhythms and ME are influenced by genetic factors. Studies show an association between eveningness and depression. This study investigates the heritability of ME and whether ME and depression share common genetic influences. Study participants (n = 1237) were from the Vietnam Era Twin Study of Aging, a longitudinal study of aging with a baseline in midlife. Participants received the Morningness–Eveningness Questionnaire (MEQ) and the Center for Epidemiologic Studies Depression (CES-D) Scale as part of an extensive neurocognitive and psychosocial assessment. MEQ correlations between members of twin pairs were 0.41 (95% CI 0.31–0.49) for monozygotic (MZ) twins and 0.28 for dizygotic (DZ) twins (95% CI 0.19–0.41). CES-D correlations were 0.38 (95% CI 0.28–0.46) for MZ twins and 0.24 (95% CI 0.14–0.36) for DZ twins. Greater eveningness (i.e. lower MEQ scores) was significantly related to more depression symptoms (phenotypic correlation = −0.15 (95% CI −0.21 to −0.09). In the best fitting model, the heritability estimates are 0.42 for the MEQ and 0.37 for the CES-D. A significant genetic correlation of −0.21 indicated that ME and depression share a significant amount of their underlying genetic variance. The genetic covariance between ME and depression accounted for 59.1% of the phenotypic correlation. Of the CES-D sub-scales, Depressed Mood and Interpersonal Difficulties were significantly heritable, while only Well-Being had a significant genetic correlation with ME. ME and depression are both heritable (ME 0.42, depression 0.37) and share common genetic factors, suggesting an overlap in etiology and the relevance of circadian rhythms to depression. Further study of this relationship may help elucidate etiological factors in depression and targets for treatment. PMID:25347156

  9. Type I error rates for testing genetic drift with phenotypic covariance matrices: a simulation study.

    PubMed

    Prôa, Miguel; O'Higgins, Paul; Monteiro, Leandro R

    2013-01-01

    Studies of evolutionary divergence using quantitative genetic methods are centered on the additive genetic variance-covariance matrix (G) of correlated traits. However, estimating G properly requires large samples and complicated experimental designs. Multivariate tests for neutral evolution commonly replace average G by the pooled phenotypic within-group variance-covariance matrix (W) for evolutionary inferences, but this approach has been criticized due to the lack of exact proportionality between genetic and phenotypic matrices. In this study, we examined the consequence, in terms of type I error rates, of replacing average G by W in a test of neutral evolution that measures the regression slope between among-population variances and within-population eigenvalues (the Ackermann and Cheverud [AC] test) using a simulation approach to generate random observations under genetic drift. Our results indicate that the type I error rates for the genetic drift test are acceptable when using W instead of average G when the matrix correlation between the ancestral G and P is higher than 0.6, the average character heritability is above 0.7, and the matrices share principal components. For less-similar G and P matrices, the type I error rates would still be acceptable if the ratio between the number of generations since divergence and the effective population size (t/N(e)) is smaller than 0.01 (large populations that diverged recently). When G is not known in real data, a simulation approach to estimate expected slopes for the AC test under genetic drift is discussed.

  10. Microsatellite based genetic diversity study in indigenous chicken ecotypes of Karnataka

    PubMed Central

    Rudresh, B. H.; Murthy, H. N. N.; Jayashankar, M. R.; Nagaraj, C. S.; Kotresh, A. M.; Byregowda, S. M.

    2015-01-01

    Aim: The current study was the first of its kind taken upon indigenous ecotypes of the Karnataka in order to unravel the diversity details at 20 chicken microsatellite regions. Materials and Methods: 210 indigenous chicken belonging to six districts of Bangalore and Mysore division formed the target sample for the present study. The genomic deoxyribonucleic acid was isolated by phenol chloroform isoamyl alcohol method. A panel of 20 microsatellite regions, including 14 recommended by FAO and six identified from published scientific literature became the targeted chicken genomic region. 27-33 samples were successfully genotyped in each of the six ecotypes through simplex or multiplex polymerase chain reactions, polyacrylamide gel electrophoresis and silver staining for the selected microsatellite panel. Results: The chickens of Ramanagara and Chamrajnagara were most distant with a Nei’s genetic distance value of 0.22. The chickens of Bangalore rural and Mysore were least distant with a value of 0.056. The Ramanagara and Chamrajnagara pair had Nei’s genetic identity value of 0.802, which is least among all pairs of ecotypes. There were five main nodes from which the six ecotypes evolved on the basis 20 microsatellite markers used in this study. This study indicates that the four ecotypes Ramnagara, Bangalore Rural, Chickaballapura and Mysore are genetically identical due to their common ancestral evolution while, Mandya and Chamrajnagara ecotypes formed a relatively different cluster due to a separate common ancestral chicken population and less number of generations since drifting from bifurcation node. Conclusion: Twenty microsatellite markers based genetic diversity study on six indigenous ecotypes indicated lower genetic distances as well as lower FST values compared to the distinguished breeds reported. There were two main clusters, which differentiated into six ecotypes. They may differentiate into more distinct varieties if bred in isolation for a longer

  11. A Novel Lung Disease Phenotype Adjusted for Mortality Attrition for Cystic Fibrosis Genetic Modifier Studies

    PubMed Central

    Taylor, Chelsea; Commander, Clayton W.; Collaco, Joseph M.; Strug, Lisa J.; Li, Weili; Wright, Fred A.; Webel, Aaron D.; Pace, Rhonda G.; Stonebraker, Jaclyn R.; Naughton, Kathleen; Dorfman, Ruslan; Sandford, Andrew; Blackman, Scott M.; Berthiaume, Yves; Paré, Peter; Drumm, Mitchell L.; Zielenski, Julian; Durie, Peter; Cutting, Garry R.; Knowles, Michael R.; Corey, Mary

    2011-01-01

    SUMMARY Genetic studies of lung disease in Cystic Fibrosis are hampered by the lack of a severity measure that accounts for chronic disease progression and mortality attrition. Further, combining analyses across studies requires common phenotypes that are robust to study design and patient ascertainment. Using data from the North American Cystic Fibrosis Modifier Consortium (Canadian Consortium for CF Genetic Studies, Johns Hopkins University CF Twin and Sibling Study, and University of North Carolina/Case Western Reserve University Gene Modifier Study), the authors calculated age-specific CF percentile values of FEV1 which were adjusted for CF age-specific mortality data. The phenotype was computed for 2061 patients representing the Canadian CF population, 1137 extreme phenotype patients in the UNC/Case Western study, and 1323 patients from multiple CF sib families in the CF Twin and Sibling Study. Despite differences in ascertainment and median age, our phenotype score was distributed in all three samples in a manner consistent with ascertainment differences, reflecting the lung disease severity of each individual in the underlying population. The new phenotype score was highly correlated with the previously recommended complex phenotype, but the new phenotype is more robust for shorter follow-up and for extreme ages. A disease progression and mortality adjusted phenotype reduces the need for stratification or additional covariates, increasing statistical power and avoiding possible distortions. This approach will facilitate large scale genetic and environmental epidemiological studies which will provide targeted therapeutic pathways for the clinical benefit of patients with CF. PMID:21462361

  12. Genetic epidemiology utilizing the adoption method: studies of obesity and of premature death in adults.

    PubMed

    Sørensen, T I

    1991-03-01

    Genetic epidemiology gives no priority to genes or environment in the search of disease causation. However, a major problem in this field is the disentangling of the effects of environment and genes. The study of subjects separated very early in life from their biologic parents and adopted by unrelated parents provide a strong tool for estimation of genetic and familial environmental influences. The degree to which the trait or disease frequency of the adoptees is similar to that seen among the biologic relatives is an indication of the strength of the genetic influence. Similarity to the adoptive relatives suggests influences of the family environment shared between them. Adoption studies of adult obesity show that it is genes, and not the family environment, that is responsible for the familial aggregation of obesity. A study of the mortality of adult adoptees and their biologic and adoptive parents indicates a genetic influence on the risk of premature death from all causes, from natural causes, infections, and cardio- and cerebrovascular conditions, and suggests familial environmental influences on death from the vascular causes and from cancer.

  13. Columbia River Stock Identification Study; Validation of Genetic Method, 1980-1981 Final Report.

    SciTech Connect

    Milner, George B.; Teel, David J.; Utter, Fred M.

    1981-06-01

    The reliability of a method for obtaining maximum likelihood estimate of component stocks in mixed populations of salmonids through the frequency of genetic variants in a mixed population and in potentially contributing stocks was tested in 1980. A data base of 10 polymorphic loci from 14 hatchery stocks of spring chinook salmon of the Columbia River was used to estimate proportions of these stocks in four different blind'' mixtures whose true composition was only revealed subsequent to obtaining estimates. The accuracy and precision of these blind tests have validated the genetic method as a valuable means for identifying components of stock mixtures. Properties of the genetic method were further examined by simulation studies using the pooled data of the four blind tests as a mixed fishery. Replicated tests with samples sizes between 100 and 1,000 indicated that actual standard deviations on estimated contributions were consistently lower than calculated standard deviations; this difference diminished as sample size increased. It is recommended that future applications of the method be preceded by simulation studies that will identify appropriate levels of sampling required for acceptable levels of accuracy and precision. Variables in such studies include the stocks involved, the loci used, and the genetic differentiation among stocks. 8 refs., 6 figs., 4 tabs.

  14. Mitochondrial genomes of parasitic arthropods: implications for studies of population genetics and evolution.

    PubMed

    Shao, R; Barker, S C

    2007-02-01

    Over 39000 species of arthropods parasitize humans, domestic animals and wildlife. Despite their medical, veterinary and economic importance, most aspects of the population genetics and evolution of the vast majority of parasitic arthropods are poorly understood. Mitochondrial genomes are a rich source of markers for studies of population genetics and evolution. These markers include (1) nucleotide sequences of each of the 37 mitochondrial genes and non-coding regions; (2) concatenated nucleotide sequences of 2 or more genes; and (3) genomic features, such as gene duplications, gene rearrangements, and changes in gene content and secondary structures of RNAs. To date, the mitochondrial genomes of over 700 species of multi-cellular animals have been sequenced entirely, however, only 24 of these species are parasitic arthropods. Of the mitochondrial genome markers, only the nucleotide sequences of 4 mitochondrial genes, cox1, cob, rrnS and rrnL, have been well explored in population genetic and evolutionary studies of parasitic arthropods whereas the sequences of the other 33 genes, and various genomic features have not. We review current knowledge of the mitochondrial genomes of parasitic arthropods, summarize applications of mitochondrial genes and genomic features in population genetic and evolutionary studies, and highlight prospects for future research.

  15. Parents' responses to predictive genetic testing in their children: report of a single case study.

    PubMed

    Michie, S; McDonald, V; Bobrow, M; McKeown, C; Marteau, T

    1996-04-01

    There is a widely held view among health professionals that predictive genetic testing of children for late onset diseases is not desirable clinical practice. Yet, little is known about the views of parents, or their responses, to predictive genetic testing in their children. Since such testing is being carried out in some genetic centres, the opportunity was taken to conduct a single case study of the parents of 2 and 4 year old sisters who were tested for the gene for familial adenomatous polyposis. Interviews before testing, after, and 15 months later showed a stable attitude, that parental responsibility included making decisions about such testing, and that the role of health professionals should be one of information giving rather than decision making. These parents had no regrets about having their children tested and reported no changes in their behaviour towards either the child who tested positively or the child who tested negatively. Using standardised scales, mood was found to be within the normal range both before and after testing in the mother and father. This case study is a first step towards systematic empirical studies determining the consequences of acquiescing to parents' requests for genetic testing in their children.

  16. Comparison of participant information and informed consent forms of five European studies in genetic isolated populations.

    PubMed

    Mascalzoni, Deborah; Janssens, A Cecile J W; Stewart, Alison; Pramstaller, Peter; Gyllensten, Ulf; Rudan, Igor; van Duijn, Cornelia M; Wilson, James F; Campbell, Harry; Quillan, Ruth M C

    2010-03-01

    Family-based research in genetically isolated populations is an effective approach for identifying loci influencing variation in disease traits. In common with all studies in humans, those in genetically isolated populations need ethical approval; however, existing ethical frameworks may be inadequate to protect participant privacy and confidentiality and to address participants' information needs in such populations. Using the ethical-legal guidelines of the Council for International Organizations of Medical Sciences (CIOMS) as a template, we compared the participant information leaflets and consent forms of studies in five European genetically isolated populations to identify additional information that should be incorporated into information leaflets and consent forms to guarantee satisfactorily informed consent. We highlight the additional information that participants require on the research purpose and the reasons why their population was chosen; on the potential risks and benefits of participation; on the opportunities for benefit sharing; on privacy; on the withdrawal of consent and on the disclosure of genetic data. This research raises some important issues that should be addressed properly and identifies relevant types of information that should be incorporated into information leaflets for this type of study.

  17. False Appearance of Gene-Environment Interactions in Genetic Association Studies.

    PubMed

    Su, Yi-Shan; Lee, Wen-Chung

    2016-03-01

    Under the assumption of gene-environment independence, unknown/unmeasured environmental factors, irrespective of what they may be, cannot confound the genetic effects. This may lead many people to believe that genetic heterogeneity across different levels of the studied environmental exposure should only mean gene-environment interaction--even though other environmental factors are not adjusted for. However, this is not true if the odds ratio is the effect measure used for quantifying genetic effects. This is because the odds ratio is a "noncollapsible" measure--a marginal odds ratio is not a weighted average of the conditional odds ratios, but instead has a tendency toward the null. In this study, the authors derive formulae for gene-environment interaction bias due to noncollapsibility. They use computer simulation and real data example to show that the bias can be substantial for common diseases. For genetic association study of nonrare diseases, researchers are advised to use collapsible measures, such as risk ratio or peril ratio.

  18. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof-of-concept and roadmap for future studies

    PubMed Central

    Anttila, Verneri; Hibar, Derrek P; van Hulzen, Kimm J E; Arias-Vasquez, Alejandro; Smoller, Jordan W; Nichols, Thomas E; Neale, Michael C; McIntosh, Andrew M; Lee, Phil; McMahon, Francis J; Meyer-Lindenberg, Andreas; Mattheisen, Manuel; Andreassen, Ole A; Gruber, Oliver; Sachdev, Perminder S; Roiz-Santiañez, Roberto; Saykin, Andrew J; Ehrlich, Stefan; Mather, Karen A; Turner, Jessica A; Schwarz, Emanuel; Thalamuthu, Anbupalam; Shugart, Yin Yao; Ho, Yvonne YW; Martin, Nicholas G; Wright, Margaret J

    2016-01-01

    Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between schizophrenia cases and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. The current study provides proof-of-concept (albeit based on a limited set of structural brain measures), and defines a roadmap for future studies investigating the genetic covariance between structural/functional brain phenotypes and risk for psychiatric disorders. PMID:26854805

  19. MEASURES OF EXPOSURE IMPACT GENETIC ASSOCIATION STUDIES: AN EXAMPLE IN VITAMIN K LEVELS AND VKORC1

    PubMed Central

    CRAWFORD, DANA C.; BROWN-GENTRY, KRISTIN; RIEDER, MARK J.

    2014-01-01

    Studies assessing the impact of gene-environment interactions on common human diseases and traits have been relatively few for many reasons. One often acknowledged reason is that it is difficult to accurately measure the environment or exposure. Indeed, most large-scale epidemiologic studies use questionnaires to assess and measure past and current exposure levels. While questionnaires may be cost-effective, the data may or may not accurately represent the exposure compared with more direct measurements (e.g., self-reported current smoking status versus direct measurement for cotinine levels). Much like phenotyping, the choice in how an exposure is measured may impact downstream tests of genetic association and gene-environment interaction studies. As a case study, we performed tests of association between five common VKORC1 SNPs and two different measurements of vitamin K levels, dietary (n=5,725) and serum (n=348), in the Third National Health and Nutrition Examination Studies (NHANES III). We did not replicate previously reported associations between VKORC1 and vitamin K levels using either measure. Furthermore, the suggestive associations and estimated genetic effect sizes identified in this study differed depending on the vitamin K measurement. This case study of VKORC1 and vitamin K levels serves as a cautionary example of the downstream consequences that the type of exposure measurement choices will have on genetic association and possibly gene-environment studies. PMID:25592578

  20. Measures of exposure impact genetic association studies: an example in vitamin K levels and VKORC1.

    PubMed

    Crawford, Dana C; Brown-Gentry, Kristin; Rieder, Mark J

    2015-01-01

    Studies assessing the impact of gene-environment interactions on common human diseases and traits have been relatively few for many reasons. One often acknowledged reason is that it is difficult to accurately measure the environment or exposure. Indeed, most large-scale epidemiologic studies use questionnaires to assess and measure past and current exposure levels. While questionnaires may be cost-effective, the data may or may not accurately represent the exposure compared with more direct measurements (e.g., self-reported current smoking status versus direct measurement for cotinine levels). Much like phenotyping, the choice in how an exposure is measured may impact downstream tests of genetic association and gene-environment interaction studies. As a case study, we performed tests of association between five common VKORC1 SNPs and two different measurements of vitamin K levels, dietary (n=5,725) and serum (n=348), in the Third National Health and Nutrition Examination Studies (NHANES III). We did not replicate previously reported associations between VKORC1 and vitamin K levels using either measure. Furthermore, the suggestive associations and estimated genetic effect sizes identified in this study differed depending on the vitamin K measurement. This case study of VKORC1 and vitamin K levels serves as a cautionary example of the downstream consequences that the type of exposure measurement choices will have on genetic association and possibly gene-environment studies.