Re-evaluation of the .BETA.-globin gene cluster haplotypes in Japanese, Koreans, and three Colombian Amerinds (Wayuu, Kamsa, and Inga tribes)

Abstract

The EH program for maximum-likelihood (ML) frequencies based on an expectation-maximization (EM) algorithm was employed for re-estimation of the b-globin gene cluster haplotype frequency distributions in Japanese, Koreans, and three Colombian Amerinds (Wayuu, Kamsa, and Inga tribes). The distributions estimated by the EH program (estimation 3) were compared with those of our previous studies obtained from individuals who were homozygous at all polymorphic restriction sites or heterozygous at only one site (estimation 1), or ascertained by family linkage studies in Japanese and Koreans (estimation 2). Average haplotype diversities and Nei's genetic distances based on estimation 3 were also compared with those based on estimations 1 and 2. Haplotypes of all chromosomes examined, which were based on RFLPs (restriction fragment length polymorphisms) at five or seven sites in the b-globin gene cluster, were determined by the EH program as in the case of a family linkage study. The average haplotype diversities based on estimation 3 were much higher than those based on estimations 1 and 2. The present study based on estimation 3 confirmed the close genetic relationships between Japanese and Koreans, and also between Wayuu and Kamsa. Colombian Amerinds showed some African or European characteristics as well as those of Asians.