SUSCEPTIBILITY TO INSULIN-DEPENDENT DIABETES-MELLITUS MAPS TO A 4.1 KB SEGMENT OF DNA SPANNING THE INSULIN GENE AND ASSOCIATED VNTR

被引:237
作者
LUCASSEN, AM
JULIER, C
BERESSI, JP
BOITARD, C
FROGUEL, P
LATHROP, M
BELL, JI
机构
[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,MOLEC IMMUNOL GRP,OXFORD OX3 9DU,ENGLAND
[2] CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE
基金
英国惠康基金;
关键词
D O I
10.1038/ng0793-305
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页码:305 / 310
页数:6
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