The DNA Polymorphisms of the β-Globin Gene Cluster and the Arrangements of the α- and the γ-Globin Genes in Koreans

Abstract

The DNA polymorphisms at the seven restriction sites in the β-globin gene cluster in healthy Koreans were examined using four restriction endonucleases, Hinc II, Hind III, Ava II, and Bam HI. Seven (f=0.326) and four individuals (f=0.246) were homozygous for [+—–+] and [+—-+-], respectively, among 66 individuals examined. As to the subhaplotypes 5′ to the α-globin gene, 25 (f=0.615) and three individuals (f = 0.213) were homozygous for [+—-] and [-+-++], respectively. The frequency of [-++-+], which carries the A_γ T-globin gene, may be low in this population. It was recognized again that [+/+] at the Hinc II site 5′ to the ϵ-globin gene always accompanied [–/–] at the Hinc II sites in and 3′ to theψβ1 -globin gene. The Korean, Japanese, and Chinese populations were not significantly different from each other in their haplotypes (subhaplotypes).

The frequencies of the abnormal α- and γ-globin gene arrangements in Koreans were low. α-Thalassemia may occurr at low frequency in Koreans.