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T-Cell Receptor Vα and Cα Alleles Associated with Multiple Sclerosis and Myasthenia Gravis

Jorge R. Oksenberg, Martina Sherritt, Ann B. Begovich, Henry A. Erlich, Claude C. Bernard, Luigi L. Cavalli-Sforza and Lawrence Steinman
Proceedings of the National Academy of Sciences of the United States of America
Vol. 86, No. 3 (Feb. 1, 1989), pp. 988-992
Stable URL: http://www.jstor.org/stable/33326
Page Count: 5
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T-Cell Receptor Vα and Cα Alleles Associated with Multiple Sclerosis and Myasthenia Gravis
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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 Vα and Cα markers were identified between patients and healthy individuals.

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