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HLA-DQ beta-chain restriction fragment length polymorphism as a risk marker in type 1 (insulin-dependent) diabetes mellitus: a Finnish family study.

Abstract
Finnish Type 1 (insulin-dependent) diabetic families were analysed for HLA-DQ beta-chain polymorphism using a short intron-specific probe. A simple hybridization pattern was obtained in which all fragments were associated significantly with Type 1 diabetes. The simultaneous presence of two different risk markers, the allelic 12-kilobase and 4-kilobase fragments were strongly associated with Type 1 diabetes since 50% of the patients had this combination compared with only 2% of the control subjects. The cosegregated 7.5/3.0 kilobase fragments, which were associated with HLA-DR2 and DRw6 were not detected among the diabetic patients but were present in 48% of the control subjects. Our results provide further support for the location of susceptibility determining factors in the HLA-DQ gene area. The clear-cut, simple restriction fragment length polymorphism pattern obtained here, which bears a resemblance to a two allelic system, therefore makes this method applicable for estimating the risk of Type 1 diabetes at the population level.
AuthorsH Reijonen, J Ilonen, M Knip, B Michelsen, H K Akerblom
JournalDiabetologia (Diabetologia) Vol. 33 Issue 6 Pg. 357-62 (Jun 1990) ISSN: 0012-186X [Print] Germany
PMID1974216 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Biomarkers
  • HLA-DQ Antigens
  • HLA-DQ beta-Chains
  • HLA-DQbeta antigen
  • HLA-DR Antigens
  • Deoxyribonuclease BamHI
Topics
  • Adolescent
  • Alleles
  • B-Lymphocytes (immunology)
  • Biomarkers (analysis)
  • Child
  • Deoxyribonuclease BamHI
  • Diabetes Mellitus, Type 1 (genetics, immunology)
  • Finland
  • Genotype
  • HLA-DQ Antigens (genetics)
  • HLA-DQ beta-Chains
  • HLA-DR Antigens (genetics)
  • Haplotypes
  • Humans
  • Polymorphism, Restriction Fragment Length
  • Reference Values
  • Risk Factors

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