HLA polymorphism in the Havasupai

Evidence for balancing selection

Therese Markow, Philip W. Hedrick, Kevin Zuerlein, John Danilovs, John Martin, Theona Vyvial, Chris Armstrong

Research output: Contribution to journalArticle

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Abstract

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 allele frequencies in males and females or avoidance of consanguineous matings. In addition, the distribution of 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.

Original languageEnglish (US)
Pages (from-to)943-952
Number of pages10
JournalAmerican Journal of Human Genetics
Volume53
Issue number4
StatePublished - Oct 1993

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HLA-A Antigens
HLA-B Antigens
Alleles
Haplotypes
Population
Serotyping
North American Indians
Linkage Disequilibrium
Homozygote
Gene Frequency

ASJC Scopus subject areas

  • Genetics

Cite this

Markow, T., Hedrick, P. W., Zuerlein, K., Danilovs, J., Martin, J., Vyvial, T., & Armstrong, C. (1993). HLA polymorphism in the Havasupai: Evidence for balancing selection. American Journal of Human Genetics, 53(4), 943-952.

HLA polymorphism in the Havasupai : Evidence for balancing selection. / Markow, Therese; Hedrick, Philip W.; Zuerlein, Kevin; Danilovs, John; Martin, John; Vyvial, Theona; Armstrong, Chris.

In: American Journal of Human Genetics, Vol. 53, No. 4, 10.1993, p. 943-952.

Research output: Contribution to journalArticle

Markow, T, Hedrick, PW, Zuerlein, K, Danilovs, J, Martin, J, Vyvial, T & Armstrong, C 1993, 'HLA polymorphism in the Havasupai: Evidence for balancing selection', American Journal of Human Genetics, vol. 53, no. 4, pp. 943-952.
Markow T, Hedrick PW, Zuerlein K, Danilovs J, Martin J, Vyvial T et al. HLA polymorphism in the Havasupai: Evidence for balancing selection. American Journal of Human Genetics. 1993 Oct;53(4):943-952.
Markow, Therese ; Hedrick, Philip W. ; Zuerlein, Kevin ; Danilovs, John ; Martin, John ; Vyvial, Theona ; Armstrong, Chris. / HLA polymorphism in the Havasupai : Evidence for balancing selection. In: American Journal of Human Genetics. 1993 ; Vol. 53, No. 4. pp. 943-952.
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