Susceptibility to Human Type-1 Diabetes At Iddm2 Is Determined by Tandem Repeat Variation At the Insulin Gene Minisatellite Locus

Bennett, ST, Lucassen, AM, Gough, Scl, Powell, EE, Undlien, DE, Pritchard, LE, Merriman, ME, Kawaguchi, Y, Dronsfield, MJ, Pociot, F, Nerup, J, Bouzekri, N, Cambonthomsen, A, Ronningen, KS, Barnett, AH, Bain, SC and Todd, JA (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


Author Bennett, ST
Lucassen, AM
Gough, Scl
Powell, EE
Undlien, DE
Pritchard, LE
Merriman, ME
Kawaguchi, Y
Dronsfield, MJ
Pociot, F
Nerup, J
Bouzekri, N
Cambonthomsen, A
Ronningen, KS
Barnett, AH
Bain, SC
Todd, JA
Title Susceptibility to Human Type-1 Diabetes At Iddm2 Is Determined by Tandem Repeat Variation At the Insulin Gene Minisatellite Locus
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 1995-03-01
Year available 1995
Sub-type Article (original research)
DOI 10.1038/ng0395-284
Open Access Status Not yet assessed
Volume 9
Issue 3
Start page 284
End page 292
Total pages 9
Place of publication NEW YORK
Publisher NATURE PUBLISHING CO
Language eng
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.
Keyword Linkage Disequilibrium
5'-Flanking Region
Hras1 Minisatellite
Negative Regulation
Polymorphic Region
Mellitus
Individuals
Expression
Sequences
Risk
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: ResearcherID Downloads - Archived
 
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