Human Heredity · 1972 · 21 citations · 0 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsPopulation GeneticsGenetic DisordersGenotype-phenotype Association AnalysisMolecular Population GeneticsMolecular TypingPhenotypic CharacterizationCarbonic Anhydrase FunctionHeterozygosity DeficitHeterozygosity EstimationHeterozygote PhenotypeNegative SelectionObserved HeterozygosityPopulation Variant Frequency Analysis
534 West Malaysian aborigines examined had the common CA Ia carbonic anhydrase pattern. Gene fre quency estimates based on PGM1 phenotypes of 920 West Malaysian aborigines were 0.68 for PGM11, 0.31 for PGM21, and 0.01 for another allele tentatively classified as PGM71. We found an increase in frequency of PGM11, from a low of 0.51 in east central part of West Malaysia to 0.78 in the northwestern part of West Malaysia. The number of heterozygotes observed was less than the Hardy-Weinberg expectations in each of the five groups included in the study. 40 of 59 other groups reviewed in the literature were also deficient in number of heterozygotes. Population structure could be responsible for the heterozygote deficit observed in this study, but failure to detect rare alleles and negative heterozygote selection cannot be ruled out.