title: 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.
authors.affiliation: Department of Medical Microbiology, University of Oulu, Denmark.
authors.forename: H
authors.initials: H
authors.lastname: Reijonen
authors.forename: J
authors.initials: J
authors.lastname: Ilonen
authors.forename: M
authors.initials: M
authors.lastname: Knip
authors.forename: B
authors.initials: B
authors.lastname: Michelsen
authors.forename: H K
authors.initials: HK
authors.lastname: Akerblom
mesh_terms: D000293:Adolescent; D000483:Alleles; D001402:B-Lymphocytes / Q000276:immunology; D015415:Biomarkers / Q000032:analysis; D002648:Child; D015245:Deoxyribonuclease BamHI; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics / Q000276:immunology*; D005387:Finland; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D012016:Reference Values; D012307:Risk Factors
chemical_list: D015415:Biomarkers; D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C057615:HLA-DQbeta antigen; D006684:HLA-DR Antigens; D015245:Deoxyribonuclease BamHI