Document Detail

HLA-DQ beta sequence polymorphism and genetic susceptibility to IDDM.
MedLine Citation:
PMID:  2210066     Owner:  NLM     Status:  MEDLINE    
The analysis of HLA-DQ beta nucleotide sequence polymorphism in insulin-dependent diabetes mellitus (IDDM) patients and control subjects suggests a role for the DQ beta-chain in genetic susceptibility. Sequence determination and oligonucleotide hybridization was carried out on enzymatically amplified DNA from various HLA-DR-typed individuals, including the rare class of DR2+ patients. In the analysis of DQ beta variation in DR4, DRw6, and DR2 haplotypes, a correlation was observed between the presence of the negatively charged residue Asp at position 57 and low susceptibility and the presence of an Ala (DR4), Val (DRw6), or Ser (DR2) and higher susceptibility. However, important exceptions to this pattern have been identified in the analysis of heterozygous DR1/4 IDDM patients. In these individuals, susceptibility appears to correlate with specific DR beta l alleles (Dw4) on the DR4 haplotype, rather than with the DQ beta allele (DQB3.2) that contains Ala at position 57. The DQ beta alleles found in some Chinese IDDM patients also proved discordant with the position-57 correlations. Thus, although there is a general correlation between the residue at position 57 of the DQ beta-chain and IDDM susceptibility, these data do not support the notion that Asp 57 confers complete resistance or protection to IDDM. In general, these results suggest that IDDM susceptibility is conferred by specific combinations of DQ beta and DR beta sequences.
H A Erlich; T L Bugawan; S Scharf; G T Nepom; B Tait; R L Griffith
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Diabetes     Volume:  39     ISSN:  0012-1797     ISO Abbreviation:  Diabetes     Publication Date:  1990 Jan 
Date Detail:
Created Date:  1990-11-21     Completed Date:  1990-11-21     Revised Date:  2005-05-14    
Medline Journal Info:
Nlm Unique ID:  0372763     Medline TA:  Diabetes     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  96-103     Citation Subset:  AIM; IM    
Cetus Corporation, Department of Human Genetics Emeryville, California 94608.
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MeSH Terms
Amino Acid Sequence
Base Sequence
Chromosome Mapping
DNA / genetics*
Diabetes Mellitus, Type 1 / genetics*
Electrophoresis, Polyacrylamide Gel
Genetic Predisposition to Disease
HLA-DQ Antigens / genetics*
HLA-DR4 Antigen / genetics
Haplotypes / genetics
Molecular Sequence Data
Polymorphism, Genetic / genetics*
Precipitin Tests
Reg. No./Substance:
0/HLA-DQ Antigens; 0/HLA-DQ3; 0/HLA-DQbeta antigen; 0/HLA-DR4 Antigen; 9007-49-2/DNA

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

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