PHENYLALANINE-HYDROXYLASE GENE HAPLOTYPES IN POLYNESIANS - EVOLUTIONARY ORIGINS AND ABSENCE OF ALLELES ASSOCIATED WITH SEVERE PHENYLKETONURIA

  • 1 March 1989
    • journal article
    • research article
    • Vol. 44  (3) , 382-387
Abstract
A total of 630 haplotypes for the phenylalanine hydroxylase (PAH) gene locus was established in five groups of Polynesians comprising Samoans, Tongans, Cook Islanders, Maori, and Niueans. Considerably genetic continuity was demonstrated bewteen these widely dispersed populations, since three common haplotypes (4, 1, and 7) constituted over 95% of the alleles. A control group of individuals from Southeast Asia shared the same major haplotypes, 4, 1, and 7, with Polynesians. These data provide further support for the theories of genetic homogeneity and of Asian affinities of the Polynesian precursor populations. The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians.