使用全基因组方法对1型糖尿病进行遗传分析。
Genetic analysis of type 1 diabetes using whole genome approaches.
作者信息
Todd J A
机构信息
Wellcome Trust Centre for Human Genetics Nuffield Department of Surgery, University of Oxford, Headington, United Kingdom.
出版信息
Proc Natl Acad Sci U S A. 1995 Sep 12;92(19):8560-5. doi: 10.1073/pnas.92.19.8560.
Abstract
Whole genome linkage analysis of type 1 diabetes using affected sib pair families and semi-automated genotyping and data capture procedures has shown how type 1 diabetes is inherited. A major proportion of clustering of the disease in families can be accounted for by sharing of alleles at susceptibility loci in the major histocompatibility complex on chromosome 6 (IDDM1) and at a minimum of 11 other loci on nine chromosomes. Primary etiological components of IDDM1, the HLA-DQB1 and -DRB1 class II immune response genes, and of IDDM2, the minisatellite repeat sequence in the 5' regulatory region of the insulin gene on chromosome 11p15, have been identified. Identification of the other loci will involve linkage disequilibrium mapping and sequencing of candidate genes in regions of linkage.
摘要
利用患病同胞对家系以及半自动基因分型和数据采集程序对1型糖尿病进行全基因组连锁分析，已揭示了1型糖尿病的遗传方式。家族中该疾病的大部分聚集现象可归因于6号染色体上主要组织相容性复合体（IDDM1）的易感位点以及九条染色体上至少其他11个位点的等位基因共享。已确定IDDM1的主要病因成分，即HLA - DQB1和 - DRB1 II类免疫反应基因，以及IDDM2，即11号染色体p15区域胰岛素基因5'调控区的小卫星重复序列。确定其他位点将涉及连锁不平衡定位以及连锁区域候选基因的测序。
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本文引用的文献
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