The Journal of Experimental Medicine
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Journal of Experimental Medicine, Vol 170, 1263-1270, Copyright © 1989 by Rockefeller University Press

ARTICLES

Insertion/deletion-related polymorphisms in the human T cell receptor beta gene complex

E Seboun, MA Robinson, TJ Kindt and SL Hauser
Neuroimmunology Unit, Massachusetts General Hospital, Boston 02114.

Insertion/deletion related polymorphisms (IDRP) involving stretches of 15-30 kb within the human TCR-beta gene complex were revealed by pulse- field gel electrophoresis. Two independent IDRP systems were detected by analysis of Sfi I- and Sal I-digested human DNA samples using probes for TCR C and V region gene segments. The allelic nature of these systems was verified in family studies, and mapping data allowed localization of one area of insertion/deletion among the V gene segments and the other near the C region genes. All but one of 50 individuals tested could be typed for the two allelic systems, and gene frequencies for the two allelic forms were 0.37/0.61 and 0.46/0.54, indicating that these polymorphisms are widespread.
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