E. Seboun et al., UNUSUAL ORGANIZATION OF THE HUMAN T-CELL RECEPTOR BETA-CHAIN GENE-COMPLEX IS LINKED TO RECOMBINATION HOTSPOTS, Proceedings of the National Academy of Sciences of the United Statesof America, 90(11), 1993, pp. 5026-5029
Two rare Sfi I polymorphisms of 360 kb and 280 kb present within the h
uman T-cell antigen receptor beta-chain gene complex were revealed by
pulsed-field gel electrophoresis. They represent allelic variants of t
he polymorphic 330- and 300-kb Sfi I fragments previously described. T
he 360-kb polymorphism results from duplication of the 30-kb DNA fragm
ent responsible for the 330/300-kb insertion/ deletion-related polymor
phism. The 280-kb polymorphism results from a 20-kb deletion from the
300-kb Sfi I allele. The rare polymorphisms also map on either side of
a Sal I site located near a recombination hotspot, suggesting that ge
rm-line duplications and deletions arose from nonhomologous crossover
events.