TAILIEUCHUNG - Báo cáo y học: "Isolated populations and complex disease gene identification"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Isolated populations and complex disease gene identification. | Opinion Isolated populations and complex disease gene identification Kati Kristiansson Jussi Naukkarinen and Leena Peltonen 4 Addresses National Public Health Institute and FIMM Institute for Molecular Medicine Finland Helsinki 00300 Finland. Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton Cambridge CB10 1SA UK. Department of Medical Genetics University of Helsinki Helsinki 00014 Finland. Correspondence Leena Peltonen. Email Published 26 August 2008 Genome Biology 2008 9 109 doi gb-2008-9-8-109 The electronic version of this article is the complete one and can be found online at http 2008 9 8 109 2008 BioMed Central Ltd Abstract The utility of genetically isolated populations population isolates in the mapping and identification of genes is not only limited to the study of rare diseases isolated populations also provide a useful resource for studies aimed at improved understanding of the biology underlying common diseases and their component traits. Well characterized human populations provide excellent study samples for many different genetic investigations ranging from genome-wide association studies to the characterization of interactions between genes and the environment. Over the past few years understanding how genetic variation in individuals and in populations contributes to the biological pathways involved in determining human traits and mechanisms of disease has become a reachable goal for genetic research. Following on from the achievements in molecular studies of monogenic disorders recent studies have used strategies of hypothesis-free fine mapping of genes and loci to identify underlying factors in common complex diseases with major impacts on public health. These diseases which include cancers coronary heart disease schizophrenia autism and multiple sclerosis arise from complex interactions between environmental factors and variation in several different genes. Until recently

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