DNA Polymorphism Patterns in the β-Globin Gene Cluster in the Japanese Population

Abstract

Restriction site polymorphisms in the 8-globin gene cluster on chromosome #11 were analyzed in healthy Japanese. The β^A chromosomes were mapped by scoring the presence (+) or the absence (-) of seven different restriction sites (Hinc II site 5′ to the ^E-globin gene; Hind III sites in the ^Gγ-and ^Aγ-globin genes; Hinc II sites in and 3′ to the øβ1-globin gene; Ava II site in the β-globin gene; Barn HI site 3′ to the β-globin gene). No chromosomes with [-+] for two Hind III sites in the ^Gγ and ^Aγ-globin genes, or those with [+-1 for two Hinc II sites in and 3′ to the øβ1-globin gene, were observed. It was observed that homozygosity for the presence of the Hinc II site 5′ to the ^E-globin gene (+/+) always accompanied the homozygosity for the absence of the Hinc II sites in and 3′ to the øβ1-globin gene (–/–).

Almost all ^Aγ^T chromosomes possessed a subhaplotype [-+ +-+] 5′ to the β-globinchromosomes gene. More than half of the β^A chromosomes observed in the Japanese showed haplotype VII, which may be characteristic for Asians.

It was deduced that frameworks 1, 2, and 3 of the β-globin gene in the Japanese comprised 16%, 18%, and 66%, respectively.