tailieunhanh - Báo cáo y học: "Rare protection against type 1 diabete"

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: Rare protection against type 1 diabetes. | Minireview Rare protection against type I diabetes Robert M Plenge Address Division of Rheumatology Immunology and Allergy Brigham and Women s Hospital 77 Avenue Louis Pasteur Boston MA 02115 USA. Email rplenge@ Published I5 May 2009 Genome Biology 2009 10 219 doi gb-2009-10-5-219 The electronic version of this article is the complete one and can be found online at http 2009 10 5 219 2009 BioMed Central Ltd Abstract A large population study using ultra-high-throughput DNA sequencing to re-sequence a genetic locus associated with type 1 diabetes reveals rare protective alleles. Unlike inherited Mendelian diseases such as cystic fibrosis the common complex diseases such as diabetes and heart disease have no single predisposing genetic factor. But over the years alleles at various genetic loci that either decrease or increase the risk of developing such diseases in relation to their incidence in the general population have been uncovered. Geneticists have made the somewhat artificial distinction between common and rare when describing alleles at polymorphic genetic loci. Classically common variants are those occurring at a frequency of more than 1 in any one continental population for example Europeans Asians or Africans whereas rare variants are present at a frequency of less than 1 . This distinction is used to frame the genetic approach to discovering and testing DNA variants and linking them to disease. For common variants it is possible to screen a reference population to identify a catalog of variants discovery phase and then test these variants in collections of cases and matched controls case-control studies using high-throughput genotyping technologies testing phase . For rare variants both the discovery and testing phases can only be done in case-control collections themselves. In a recent paper in Science Nejentsev et al. 1 describe the use of next-generation DNA sequencing of a large case-control population to search .

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