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: B O Boehm, B J Manfras, C Rosak, P Kuehnl, K Schöffling, M Trucco
• Journal: Diabetes research (Edinburgh, Scotland) (Diabetes Res) Vol. 15 Issue 2 Pg. 63-7 (Oct 1990) ISSN: 0265-5985 [Print] Scotland
• PMID: 1983428 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Macromolecular Substances
• Oligodeoxyribonucleotides
• Receptors, Antigen, T-Cell
• Deoxyribonuclease HindIII

Topics

• Alleles
• Base Sequence
• Deoxyribonuclease HindIII
• Diabetes Mellitus, Type 1 (genetics, immunology)
• Female
• Genetic Linkage
• Humans
• Macromolecular Substances
• Major Histocompatibility Complex
• Male
• Molecular Sequence Data
• Oligodeoxyribonucleotides
• Pedigree
• Polymorphism, Restriction Fragment Length
• Receptors, Antigen, T-Cell (genetics)
• Reference Values
• White People