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Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus

Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus
Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus
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.
1061-4036
284-292
Bennett, S. T.
392ed835-7fd8-406d-8616-14c177937b8f
Lucassen, A. M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Gough, S. C .L.
02d2153b-e241-4ec1-8340-8b33950b0f27
Powell, E. E.
db1dff41-3776-4c41-918f-e712828c2cea
Undlien, D. E.
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Pritchard, L. E.
a6fb18ce-698b-46af-b4fe-fb07d2ca4487
Merriman, M.E.
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Kawaguchi, Y.
d76c770d-9a7c-4c5d-8d66-c38c60934f9a
Dronsfield, M.
d7c13f24-3f0f-4eca-b61a-8fc2c4395028
Pociot, F
cfcb3a20-21df-4ab0-9cc5-54e698bbd24e
Nerup, J.
3c1a3222-a790-49aa-a195-0d215dfbf4e4
Bouzekri, N.
c72345e9-805f-4241-9042-f4f5b2ec50c1
Cambon-Thomsen, A.
d0cca570-10d8-42a8-ba25-f6e57230989d
Ronningen, K .S.
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Barnett, A. H.
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Bain, S. C.
8dc59248-f9bf-49c4-adb9-acd5ed3d581d
Todd, J. A.
e812d39c-e8de-478e-a430-bf4aaebca5f8
Bennett, S. T.
392ed835-7fd8-406d-8616-14c177937b8f
Lucassen, A. M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Gough, S. C .L.
02d2153b-e241-4ec1-8340-8b33950b0f27
Powell, E. E.
db1dff41-3776-4c41-918f-e712828c2cea
Undlien, D. E.
5f6f8453-3256-4c7f-9975-9660cd66fa68
Pritchard, L. E.
a6fb18ce-698b-46af-b4fe-fb07d2ca4487
Merriman, M.E.
6911647c-64f2-44dc-9010-60c1e508c8cd
Kawaguchi, Y.
d76c770d-9a7c-4c5d-8d66-c38c60934f9a
Dronsfield, M.
d7c13f24-3f0f-4eca-b61a-8fc2c4395028
Pociot, F
cfcb3a20-21df-4ab0-9cc5-54e698bbd24e
Nerup, J.
3c1a3222-a790-49aa-a195-0d215dfbf4e4
Bouzekri, N.
c72345e9-805f-4241-9042-f4f5b2ec50c1
Cambon-Thomsen, A.
d0cca570-10d8-42a8-ba25-f6e57230989d
Ronningen, K .S.
b631c89a-56a7-4ecb-a18b-51a4f43df849
Barnett, A. H.
88f0298d-bb5e-452d-93c2-1517dcf312a6
Bain, S. C.
8dc59248-f9bf-49c4-adb9-acd5ed3d581d
Todd, J. A.
e812d39c-e8de-478e-a430-bf4aaebca5f8

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)

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: https://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: 30 Nov 2017 17:32

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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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