Document Detail

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21.
MedLine Citation:
PMID:  7987397     Owner:  NLM     Status:  MEDLINE    
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many other autoimmune diseases, APECED does not show association to specific HLA haplotypes. Unravelling the APECED locus will identify a novel gene outside the HLA loci influencing the outcome of autoimmune diseases. We have assigned the disease locus to chromosome 21q22.3 by linkage analyses in 14 Finnish families. Linkage disequilibrium studies have significantly increased the informativeness of the analyses and helped to locate the critical DNA region for the APECED locus to just 500 kilobases, a much more precise definition than linkage analyses alone could achieve.
J Aaltonen; P Björses; L Sandkuijl; J Perheentupa; L Peltonen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Nature genetics     Volume:  8     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1994 Sep 
Date Detail:
Created Date:  1995-01-06     Completed Date:  1995-01-06     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  83-7     Citation Subset:  IM    
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 21*
Genetic Markers
Lod Score
Polyendocrinopathies, Autoimmune / genetics*
Reg. No./Substance:
0/Genetic Markers

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