Unusual organization of the human T-cell receptor beta-chain gene complex is linked to recombination hotspots.
basic_science · Level V
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- Record sourced from PubMed, PMID 8099448.
- Also identified by PMC identifier 46646.
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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.
Medical subject headings
- Chromosomes, Human, Pair 7
- Polymorphism, Genetic
- Receptors, Antigen, T-Cell, alpha-beta
- Recombination, Genetic