title: TcR-alpha and TcR-beta dialellic RFLPs in insulin-dependent (type I) Caucasian diabetic patients.
abstract: We studied the association of a T-cell receptor (TcR) beta restriction fragment length polymorphism (RFLP) and a new TcR-alpha RFLP with insulin-dependent (Type I) diabetes mellitus. This study is part of our effort to find new non-HLA disease genes involved in this chronic organ-specific autoimmune disease. Distribution of a 9.2 kb and a 10.0 kb diallelic TcR beta 2 RFLP was not different in diabetics and controls. A new TcR-alpha RFLP, which gave a 2.7 kb Hind III restriction fragment (A2 allele) was found with a frequency of 0.78 in a population of 78 IDDM patients, compared to 0.68 in 68 control subjects (X2 = 3.62, p = 0.057). In 11 multiplex families studied, a high prevalence of the A2 allele was also observed, but cosegregation with the disease was not seen. Our data suggest that a TcR beta 2 RFLP is not associated with the disease, whereas a particular T-cell receptor alpha germline RFLP (A2 allele) is increased in Type I diabetics although formal proof of linkage is lacking. HLA typing reconfirmed that the HLA-DR4 specificity and the DQ allele HLA-DQw8 are primary risk markers in insulin-dependent (Type I) diabetes mellitus.
authors.affiliation: University Hospital of Frankfurt Medical School, Department of General Medicine, Germany.
authors.forename: B O
authors.initials: BO
authors.lastname: Boehm
authors.forename: B J
authors.initials: BJ
authors.lastname: Manfras
authors.forename: C
authors.initials: C
authors.lastname: Rosak
authors.forename: P
authors.initials: P
authors.lastname: Kuehnl
authors.forename: K
authors.initials: K
authors.lastname: Schöffling
authors.forename: M
authors.initials: M
authors.lastname: Trucco
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015247:Deoxyribonuclease HindIII; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D046911:Macromolecular Substances; D008285:Major Histocompatibility Complex; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D012016:Reference Values; D044465:White People
chemical_list: D046911:Macromolecular Substances; D009838:Oligodeoxyribonucleotides; D011948:Receptors, Antigen, T-Cell; D015247:Deoxyribonuclease HindIII