title: Hardy-Weinberg testing for HLA class II (DRB1, DQA1, DQB1, and DPB1) loci in 26 human ethnic groups.
abstract: Testing the fit of population data to Hardy-Weinberg proportions is crucial in the validation of many current approaches in population genetic studies. In this paper, we tested fit to Hardy-Weinberg proportions using exact approaches for both the overall and individual heterozygote genotype data of four HLA Class II loci: DRB1, DQA1, DQB1, and DPB1, from 26 human populations. Eighty of 99 overall tests fit the Hardy-Weinberg expectation (73% for DRB1, 89% for DQA1, 81% for DQB1 and 81% for DPB1). Deviations from Hardy-Weinberg proportions were both locus and group specific. Although we could not rule out other mechanisms at work, the individual test results indicated that the departure was possibly partly due to recent admixture. Evidence for selection and other sources of deviation are also discussed.
authors.affiliation: School of Public Health, Saint Louis University, Missouri 63108, USA. chenjj@slu.edu
authors.forename: J J
authors.initials: JJ
authors.lastname: Chen
authors.forename: J A
authors.initials: JA
authors.lastname: Hollenbach
authors.forename: E A
authors.initials: EA
authors.lastname: Trachtenberg
authors.forename: J J
authors.initials: JJ
authors.lastname: Just
authors.forename: M
authors.initials: M
authors.lastname: Carrington
authors.forename: K S
authors.initials: KS
authors.lastname: Rønningen
authors.forename: A
authors.initials: A
authors.lastname: Begovich
authors.forename: M C
authors.initials: MC
authors.lastname: King
authors.forename: S
authors.initials: S
authors.lastname: McWeeney
authors.forename: S J
authors.initials: SJ
authors.lastname: Mack
authors.forename: H A
authors.initials: HA
authors.lastname: Erlich
authors.forename: G
authors.initials: G
authors.lastname: Thomson
mesh_terms: D000483:Alleles; D005828:Genetics, Population; D005838:Genotype; D006682:HLA-DP Antigens / Q000235:genetics* / Q000276:immunology; D059868:HLA-DP beta-Chains; D006683:HLA-DQ Antigens / Q000235:genetics* / Q000276:immunology; D059848:HLA-DQ alpha-Chains; D006684:HLA-DR Antigens / Q000235:genetics* / Q000276:immunology; D059811:HLA-DRB1 Chains; D006650:Histocompatibility Testing; D006801:Humans; D044469:Racial Groups
chemical_list: D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; C069050:HLA-DQA1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains