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Frequent recombination in the human T-cell receptor beta gene complex
C E Day1, K Schmitt, M A Robinson
1Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, Twinbrook II Facility, Rockville, MD 20852.
Immunogenetics
|January 1, 1994
Summary
Human T-cell receptor beta (TCRB) haplotypes show genetic recombination. Studies indicate a higher meiotic recombination rate in a specific 250 kb region of the TCRB gene complex in males.
Area of Science:
- Immunogenetics
- Human Genetics
- Molecular Biology
Background:
- Human T-cell receptor beta (TCRB) haplotypes display significant allelic marker combinations, suggesting a role for genetic recombination.
- Individual TCRB VBV gene segments show limited polymorphism, contrasting with the diversity observed in haplotypes.
Purpose of the Study:
- To investigate meiotic recombination rates within a 250 kilobase (kb) region at the 3' end of the human TCRB gene complex.
- To determine if genetic recombination contributes to the generation of diverse TCRB haplotypes.
Main Methods:
- Extended family studies analyzing segregation patterns of polymorphic TCRB markers.
- Analysis of single sperm from heterozygous donors to detect meiotic exchange events in the targeted 250 kb region.
Main Results:
- Four recombinants (approximately 2%) were detected among 178 informative paternal meioses, with no recombinants found in 199 maternal meioses.
- Analysis of 1101 individual sperm revealed a recombination rate of approximately 1.3% in the studied region.
- The observed recombination rate in males is estimated to be six times higher than the average human genome rate.
Conclusions:
- Meiotic recombination occurs in the 3' region of the TCRB gene complex, particularly in males.
- The recombination rate in this 250 kb TCRB region is significantly elevated compared to the general human genome average.
- Genetic recombination likely plays a substantial role in generating the observed diversity of human TCRB haplotypes.
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