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

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Abstract
Restriction site polymorphisms in the .beta.-globin gene cluster on chromosome #11 were analyzed in healthy Japanese. The .beta.A chromosomes were mapped by scoring the presence (+) or the absence (-) of seven different restriction sites (Hinc II site 5'' to the .epsilon.-globin gene; Hind III sites in the G.gamma.- and A.gamma.-globin genes; Hinc II sites in and 3'' to the .psi..beta.1-globin gene; Ava II site in the .beta.-globin gene; Bam HI site 3'' to the .beta.-globin gene). No chromosomes with [- +] for two Hind III sites in the G.gamma.- and A.gamma.-globin genes, or those with [+ -] for two Hinc II sites in and 3'' to the .psi..beta.1-globin gene, were observed. It was observed that homozygosity for the presence of the Hinc II site 5'' to the .epsilon.-globin gene (+/+) always accompanied the homozygosity for the absence of the Hinc II sites in and 3'' to the .psi..beta.1-globin gene (--/--). Almost all A.gamma.T chromosomes possessed a subhaplotype [-++-+] 5'' to the .beta.-globin gene. More than half of the .beta.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 .beta.-globin gene in the Japanese comprised 16%, 18%, and 66%, respectively.