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

Diabetologia. 1990 Jun;33(6):357-62. doi: 10.1007/BF00404640.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • B-Lymphocytes / immunology
  • Biomarkers / analysis
  • Child
  • Deoxyribonuclease BamHI
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 1 / 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

Substances

  • Biomarkers
  • HLA-DQ Antigens
  • HLA-DQ beta-Chains
  • HLA-DQbeta antigen
  • HLA-DR Antigens
  • Deoxyribonuclease BamHI