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The IDDM2 locus encoding susceptibility to type 1 diabetes was mapped previously to a 4.1-kb region spanning the insulin gene and a minisatellite or variable number of tandem repeats (VNTR) locus on human chromosome 11p15.5. By 'cross-match' haplotype analysis and linkage disequilibrium mapping, we have mapped the mutation IDDM2 to within the VNTR itself. Other polymorphisms were systematically excluded as primary disease determinants. Transmission of IDDM2 may be influenced by parent-of-origin phenomena. Although we show that the insulin gene is expressed biallelically in the adult pancreas, we present preliminary evidence that the level of transcription in vivo is correlated with allelic variation within the VNTR. Allelic variation at VNTRs may play an important general role in human disease.

Original publication

DOI

10.1038/ng0395-284

Type

Journal article

Journal

Nat Genet

Publication Date

03/1995

Volume

9

Pages

284 - 292

Keywords

Adult, Alleles, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 11, DNA, DNA Primers, DNA, Satellite, Diabetes Mellitus, Type 1, Female, Gene Expression, Genomic Imprinting, Haplotypes, Humans, Insulin, Linkage Disequilibrium, Male, Minisatellite Repeats, Molecular Sequence Data, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length