胰岛素依赖型糖尿病的易感性定位到一段跨越胰岛素基因及相关可变数目串联重复序列的4.1 kb DNA片段。

Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR.

作者信息

Lucassen A M, Julier C, Beressi J P, Boitard C, Froguel P, Lathrop M, Bell J I

机构信息

Molecular Immunology group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

出版信息

Nat Genet. 1993 Jul;4(3):305-10. doi: 10.1038/ng0793-305.

DOI:10.1038/ng0793-305

PMID:8358440

Abstract

Recent studies have demonstrated that a locus at 11p15.5 confers susceptibility to insulin dependent diabetes mellitus (IDDM). This locus has been shown to lie within a 19 kb region. We present a detailed sequence comparison of the predominant haplotypes found in this region in a population of French Caucasian IDDM patients and controls. Identification of polymorphisms both associated and unassociated with IDDM has allowed us to define further the region of association to 4.1 kb. Ten polymorphisms within this region are in strong linkage disequilibrium with each other and extend across the insulin gene locus and the variable number tandem repeat (VNTR) situated immediately 5' to the insulin gene. These represent a set of candidate disease polymorphisms one or more of which may account for the susceptibility to IDDM.

摘要

最近的研究表明，11p15.5位点会使人易患胰岛素依赖型糖尿病（IDDM）。该位点已被证明位于一个19 kb的区域内。我们对法国白种人IDDM患者和对照组人群中该区域发现的主要单倍型进行了详细的序列比较。对与IDDM相关和不相关的多态性的鉴定使我们能够将关联区域进一步定义为4.1 kb。该区域内的10个多态性彼此之间存在很强的连锁不平衡，并延伸至胰岛素基因位点以及紧邻胰岛素基因5'端的可变数目串联重复序列（VNTR）。这些代表了一组候选疾病多态性，其中一个或多个可能是导致易患IDDM的原因。