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. 1993 Jun 1;90(11):5026-9.
doi: 10.1073/pnas.90.11.5026.

Unusual organization of the human T-cell receptor beta-chain gene complex is linked to recombination hotspots

E Seboun  1 , L Houghton, C J Hatem Jr, R Lincoln, S L Hauser
Affiliations

Unusual organization of the human T-cell receptor beta-chain gene complex is linked to recombination hotspots

E Seboun et al. Proc Natl Acad Sci U S A. .

Abstract

Two rare Sfi I polymorphisms of 360 kb and 280 kb present within the human T-cell antigen receptor beta-chain gene complex were revealed by pulsed-field gel electrophoresis. They represent allelic variants of the polymorphic 330- and 300-kb Sfi I fragments previously described. The 360-kb polymorphism results from duplication of the 30-kb DNA fragment responsible for the 330/300-kb insertion/deletion-related polymorphism. The 280-kb polymorphism results from a 20-kb deletion from the 300-kb SfiI allele. The rare polymorphisms also map on either side of a Sal I site located near a recombination hotspot, suggesting that germline duplications and deletions arose from nonhomologous crossover events.

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