SNP解析によって明らかにされたハプロタイプ構造に基づくヒト皮膚色候補遺伝子の自然選択検出の可能性

抄録

Detecting natural selection would provide valuable insight into the molecular mechanisms of pathogenesis and advanced knowledge about the history of human adaptations to local environments. This study tried to detect natural selection in pigmentation candidate genes from haplotype structure as revealed by SNP analyses. We estimated the frequencies of diplotypes (combinations of the haplotypes) expected from Hardy-Weinberg equilibrium to evaluate natural selection. We also tested for correlations between the haplotypes with a high frequency and melanin content. The results indicated the possible difference of the melanin contents among the haplotypes. We suggest the possibility of natural selection to a mutation linking to the SNPs in the haplotypes. This paper also discusses future approaches to detecting natural selection in pigmentation candidate genes from haplotype structure as revealed by SNP analyses.