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

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...

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Veröffentlicht in:Diabetologia Jg. 33; H. 6; S. 357
Hauptverfasser: Reijonen, H, Ilonen, J, Knip, M, Michelsen, B, Akerblom, H K
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Germany 01.06.1990
Schlagworte:
Adolescent
Alleles
B-Lymphocytes - immunology
Biomarkers - analysis
Child
Deoxyribonuclease BamHI
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 1 - immunology
Finland
Genotype
Haplotypes
HLA-DQ Antigens - genetics
HLA-DQ beta-Chains
HLA-DR Antigens - genetics
Humans
Polymorphism, Restriction Fragment Length
Reference Values
Risk Factors
Finland
ISSN:0012-186X
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Zusammenfassung: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.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:0012-186X
DOI:10.1007/BF00404640