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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), pp. 284-292. (doi:10.1038/ng0395-284). (PMID:7773291).

Record type: Article

Abstract

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.

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Published date: March 1995

Identifiers

Local EPrints ID: 182461
URI: http://eprints.soton.ac.uk/id/eprint/182461
ISSN: 1061-4036
PURE UUID: 6427e12a-8f68-480b-a9c9-f3e79d2d1017

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Date deposited: 12 May 2011 10:02
Last modified: 18 Jul 2017 11:57

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Contributors

Author: S. T. Bennett
Author: A. M. Lucassen
Author: S. C .L. Gough
Author: E. E. Powell
Author: D. E. Undlien
Author: L. E. Pritchard
Author: M.E. Merriman
Author: Y. Kawaguchi
Author: M. Dronsfield
Author: F Pociot
Author: J. Nerup
Author: N. Bouzekri
Author: A. Cambon-Thomsen
Author: K .S. Ronningen
Author: A. H. Barnett
Author: S. C. Bain
Author: J. A. Todd

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