Document Detail


Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus.
MedLine Citation:
PMID:  7773291     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
S T Bennett; A M Lucassen; S C Gough; E E Powell; D E Undlien; L E Pritchard; M E Merriman; Y Kawaguchi; M J Dronsfield; F Pociot
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Nature genetics     Volume:  9     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-07-12     Completed Date:  1995-07-12     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  284-92     Citation Subset:  IM    
Affiliation:
Nuffield Department of Surgery, Wellcome Trust Centre for Human Genetics, University of Oxford, UK.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/J00265
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MeSH Terms
Descriptor/Qualifier:
Adult
Alleles
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 11
DNA / genetics
DNA Primers / genetics
DNA, Satellite / genetics
Diabetes Mellitus, Type 1 / genetics*
Female
Gene Expression
Genomic Imprinting
Haplotypes
Humans
Insulin / genetics*
Linkage Disequilibrium
Male
Minisatellite Repeats*
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Grant Support
ID/Acronym/Agency:
//Wellcome Trust
Chemical
Reg. No./Substance:
0/DNA Primers; 0/DNA, Satellite; 11061-68-0/Insulin; 9007-49-2/DNA
Comments/Corrections
Comment In:
Nat Genet. 1995 Aug;10(4):378-80   [PMID:  7670485 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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