T-cell receptor V(α) and C(α) alleles associated with multiple sclerosis and myasthenia gravis

J. R. Oksenberg, M. Sherritt, A. B. Begovich, H. A. Erlich, C. C. Bernard, L. L. Cavalli-Sforza, L. Steinman

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Abstract

Polymorphic markers in genes encoding the α chain of the human T-cell receptor (TcR) have been detected by Southern blot analysis in Pss I digests. Polymorphic bands were observed at 6.3 and 2.0 kilobases (kb) with frequencies of 0.30 and 0.44, respectively, in the general population. Using the polymerase chain reaction (PCR) method, we amplified selected sequences derived from the full-length TcR α cDNA probe. These PCR products were used as specific probes to demonstrate that the 6.3-kb polymorphic fragment hybridizes to the variable (V)-region probe and the 2.0-kb fragment hybridizes to the constant (C)-region probe. Segregation of the polymorphic bands was analyzed in family studies. To look for associations between these markers and autoimmune diseases, we have studied the restriction fragment length polymorphism distribution of the Pss I markers in patients with multiple sclerosis, myasthenia gravis, and Graves disease. Significant differences in the frequency of the polymorphic V(α) and C(α) markers were identified between patients and healthy individuals.

Original languageEnglish
Pages (from-to)988-992
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume86
Issue number3
DOIs
Publication statusPublished - 1989
Externally publishedYes

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