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

J Exp Med. 1989 Oct 1;170(4):1263-70. doi: 10.1084/jem.170.4.1263.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Deoxyribonucleases, Type II Site-Specific
  • Electrophoresis, Agar Gel
  • Gene Frequency
  • Humans
  • Polymorphism, Restriction Fragment Length
  • Receptors, Antigen, T-Cell / genetics*
  • Receptors, Antigen, T-Cell, alpha-beta
  • Restriction Mapping

Substances

  • Receptors, Antigen, T-Cell
  • Receptors, Antigen, T-Cell, alpha-beta
  • endodeoxyribonuclease SfiI
  • Deoxyribonucleases, Type II Site-Specific
  • GTCGAC-specific type II deoxyribonucleases