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Haplotyping the human T-cell receptor. beta. -chain gene complex by use of restriction fragment length polymorphisms

Journal Article · · Proceedings of the National Academy of Sciences of the United States of America; (USA)
; ;  [1];  [2];  [3]
  1. Univ. of California Los Angeles School of Medicine (USA)
  2. Virginia Mason Research Center, Seattle, WA (USA)
  3. California Institute of Technology, Pasadena (USA)
The authors have studied the genetic segregation of human T-cell receptor {beta}-chain (TCR{beta}) genes on chromosome 7q in 40 CEPH (Centre d'Etude du Polymorphisme Humain) families by using restriction fragment length polymorphisms (RFLPs). They constructed haplotypes from eight RFLPs by using variable- and constant-region cDNA probes, which detect polymorphisms that span more than 600 kilobases of the TCR{beta} gene complex. Analysis of allele distributions between TCR{beta} genes revealed significant linkage disequilibrium between only 6 of the 28 different pairs of RFLPs. This linkage disequilibrium strongly influences the most efficient order to proceed for typing of these RFLPs in order to achieve maximum genetic informativeness, which in this study revealed a 97.3% level of heterozygosity within the TCR{beta} gene complex. The results should provide new insight into recent reports of disease associations with the TCR{beta} gene complex and should assist in designing future experiments to detect or confirm the existence of disease-susceptibility loci in this region of the human genome.
OSTI ID:
5988117
Journal Information:
Proceedings of the National Academy of Sciences of the United States of America; (USA), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (USA) Vol. 87:12; ISSN 0027-8424; ISSN PNASA
Country of Publication:
United States
Language:
English