Genetic Analysis of Systemic Lupus Erythematosus : Association with a T Cell Receptor Restriction Fragment Length Polymorphism in Japanese Patients

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Many studies have suggested the involvement of multiple genetic loci in the development of systemic lupus erythematosus (SLE). We have analyzed the correlation between various genetic markers and the susceptibility to SLE. In this study, the association of SLE and restriction fragment length polymorphism (RFLP) of T cell receptor gene was evaluated. The cDNA for constant regions of α, β and γ chain were used as probes and RFLPs were analyzed after digestion with Eco RI, Bam HI, Pst I, Pvu II, Hind III and Bgl II. Among them, polymorphisms were detected using Bgl II-and Hind III-digested DNA and C β as a probe. Association with SLE in Japanese patients was found only after digestion with Hind III. The absence of the 13 kb polymorphic band appeared to be correlated with the development of SLE (relative risk = 4.78).(Internal Medicine 31 : 998-1003, 1992)