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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.

Original publication

DOI

10.1038/ng0793-305

Type

Journal article

Journal

Nature genetics

Publication Date

07/1993

Volume

4

Pages

305 - 310

Addresses

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

Keywords

Humans, Diabetes Mellitus, Type 1, Insulin, DNA, HLA-DR4 Antigen, Chromosome Mapping, Base Sequence, Repetitive Sequences, Nucleic Acid, Haplotypes, Polymorphism, Genetic, Molecular Sequence Data