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Publication : A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus.

First Author  Bell GI Year  1984
Journal  Diabetes Volume  33
Issue  2 Pages  176-83
PubMed ID  6363172 Mgi Jnum  J:15543
Mgi Id  MGI:63663 Doi  10.2337/diab.33.2.176
Citation  Bell GI, et al. (1984) A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes 33(2):176-83
abstractText  A polymorphic region flanking the human insulin gene on the short arm of chromosome 11, the insulin-gene-linked DNA polymorphism, can be described as a locus with at least three classes of alleles: a common small class 1 allele averaging 570 base pairs, a rare intermediate class 2 allele of about 1320 base pairs, and a large class 3 allele averaging 2470 base pairs in size. We have determined the genotype at this locus of 393 unrelated diabetic and nondiabetic individuals. Differences were observed in the genotypic and allelic frequencies between groups of different races. Asians [17 nondiabetic, 2 with insulin-dependent diabetes mellitus (IDDM), and 8 with non-insulin-dependent diabetes mellitus (NIDDM)] exhibited the least variation in the size of this locus and 98% of the alleles in this group were class 1. A group of American blacks (32 nondiabetic, 5 with IDDM, and 40 with NIDDM) exhibited considerable variation in the size of this locus, and about 22% of the individuals examined had a genotype that included a rare class 2 allele. In neither of these two racial groups were the genotypic or allelic frequencies different between the nondiabetic and diabetic segments of these groups. However, in a group of Caucasians (83 nondiabetic, 113 with IDDM, and 76 with NIDDM), there was a significantly higher frequency of class 1 alleles and genotypes containing two class 1 alleles in the diabetic patients compared with nondiabetic controls.(ABSTRACT TRUNCATED AT 250 WORDS)
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