Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus
Bennett, S. T., Lucassen, A. M., Gough, S. C .L., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman , M.E., Kawaguchi, Y., Dronsfield, M., Pociot, F, Nerup, J., Bouzekri, N., Cambon-Thomsen, A., Ronningen, K .S., Barnett, A. H., Bain, S. C. and Todd, J. A. (1995) Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genetics, 9, (3), 284-292. (doi:10.1038/ng0395-284). (PMID:7773291).
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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.
|Digital Object Identifier (DOI):||doi:10.1038/ng0395-284|
|Divisions :||University Structure - Pre August 2011 > School of Medicine > Cancer Sciences
|Accepted Date and Publication Date:||
|Date Deposited:||12 May 2011 10:02|
|Last Modified:||31 Mar 2016 13:36|
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