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1型糖尿病易感基因(IDDM7)与2号染色体q31-q33区域的连锁不平衡定位。

Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33.

作者信息

Copeman J B, Cucca F, Hearne C M, Cornall R J, Reed P W, Rønningen K S, Undlien D E, Nisticò L, Buzzetti R, Tosi R

机构信息

Nuffield Department of Surgery, Wellcome Trust Centre for Human Genetics, University of Oxford, UK.

出版信息

Nat Genet. 1995 Jan;9(1):80-5. doi: 10.1038/ng0195-80.

Abstract

The role of human chromosome 2 in type 1 diabetes was evaluated by analysing linkage and linkage disequilibrium at 21 microsatellite marker loci, using 348 affected sibpair families and 107 simplex families. The microsatellite D2S152 was linked to, and associated with, disease in families from three different populations. Our evidence localizes a new diabetes susceptibility gene, IDDM7, to within two centiMorgans of D2S152. This places it in a region of chromosome 2q that shows conserved synteny with the region of mouse chromosome 1 containing the murine type 1 diabetes gene, Idd5. These results demonstrate the utility of polymorphic microsatellites for linkage disequilibrium mapping of genes for complex diseases.

摘要

通过对348个患病同胞对家庭和107个单发病例家庭中21个微卫星标记位点进行连锁和连锁不平衡分析,评估了人类2号染色体在1型糖尿病中的作用。微卫星D2S152与来自三个不同人群家庭中的疾病存在连锁关系并与之相关。我们的证据将一个新的糖尿病易感基因IDDM7定位到距D2S152两个厘摩的范围内。这使其位于2号染色体q区域,该区域与小鼠1号染色体上包含鼠类1型糖尿病基因Idd5的区域具有保守的同线性。这些结果证明了多态微卫星在复杂疾病基因连锁不平衡定位中的实用性。

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