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Title: HLA polymorphism in the Havasupai: Evidence for balancing selection

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:5105330
; ; ;  [1];  [2]; ;
  1. Arizona State Univ., Tempe, AZ (United States)
  2. Maricopa Medical Center, Phoenix, AZ (United States)

The characterization and analysis of genetic variation at the HLA loci provides important insight for population geneticists trying to understand the evolutionary forces that have shaped human populations. This study describes the HLA-A and HLA-B loci serotyping and statistical analysis on an isolated Native American population, the Havasupai of Arizona. Four alleles at the HLA-A locus were identified, while eight alleles were found at the HLA-B locus. These variants were present as 20 of 32 potential two-locus haplotypes, with five of the six most common haplotypes exhibiting high positive linkage disequilibrium. Significant homozygote deficiency (heterozygosity excess) was detected both at HLA-A and at HLA-B. This deviation from Hardy-Weinberg proportions was not attributable to nonselective causes such as different alleles at both HLA-A and HLA-B was more even than expected from neutrality theory; that is, the observed Hardy-Weinberg homozygosity was only 62.4% of that expected under neutrality. These observations suggest that balancing selection is of major importance in maintaining genetic variation at HLA-A and HLA-B. 52 refs., 5 tabs.

OSTI ID:
5105330
Journal Information:
American Journal of Human Genetics; (United States), Vol. 53:4; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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