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Related Experiment Videos

Polymorphism in human T cell receptor alpha chain variable region genes.

A H Grier1, M P Mitchell, M A Robinson

  • 1Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

Experimental and Clinical Immunogenetics
|January 1, 1990
PubMed
Summary

Human T cell receptor (TCR) alpha gene polymorphism is limited for individual segments but shows extensive heterogeneity in haplotypes. This suggests frequent recombination within the TCR alpha gene complex.

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Area of Science:

  • Immunogenetics
  • Molecular Biology
  • Human Genetics

Background:

  • The T cell receptor (TCR) alpha gene complex plays a crucial role in adaptive immunity.
  • Understanding the genetic polymorphism of TCR alpha genes is essential for studying immune system diversity and disease associations.

Purpose of the Study:

  • To investigate the polymorphism of human T cell receptor (TCR) alpha genes using restriction fragment length polymorphism (RFLP).
  • To characterize human V alpha genes and analyze the heterogeneity of TCR alpha gene haplotypes.

Main Methods:

  • Restriction Fragment Length Polymorphism (RFLP) analysis was employed to detect polymorphism in human TCR alpha genes.
  • Genomic Southern blotting using a rabbit TCR alpha cDNA probe (VJR5) and a human genomic probe (HUTAVR5) was performed.

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  • Haplotypes were defined using six RFLP markers in family studies.

    • Main Results:

    • Individual TCR alpha gene segments exhibited limited polymorphism, with few restriction enzymes revealing variations and only two or three allelic forms observed.
    • A rabbit TCR alpha cDNA probe (VJR5) detected polymorphism in human DNA, suggesting hybridization with at least two distinct human V alpha genes.
    • Extensive heterogeneity was observed in TCR alpha gene haplotypes, with 17 different combinations of six RFLP markers identified in 10 families.

    Conclusions:

    • Despite limited polymorphism in individual TCR alpha gene segments, TCR alpha haplotypes display significant heterogeneity.
    • The observed haplotype diversity suggests that recombination events may occur frequently within the human TCR alpha gene complex.
    • These findings contribute to understanding the genetic architecture of the TCR alpha locus and its implications for immune diversity.