title: The DNA polymorphisms of the beta-globin gene cluster and the arrangements of the alpha- and the gamma-globin genes in Koreans.
abstract: The DNA polymorphisms at the seven restriction sites in the beta-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 delta-globin gene, 25 (f = 0.615) and three individuals (f = 0.213) were homozygous for [+----] and [-+-++], respectively. The frequency of [-++-+], which carries the A gamma T-globin gene, may be low in this population. It was recognized again that [+/+] at the Hinc II site 5' to the epsilon-globin gene always accompanied [--+--] at the Hinc II sites in and 3' to the psi beta 1-globin gene. The Korean, Japanese, and Chinese populations were not significantly different from each other in their haplotypes (subhaplotypes). The frequencies of the abnormal alpha- and gamma-globin gene arrangements in Koreans were low. alpha-Thalassemia may occur at low frequency in Koreans.
authors.affiliation: Institute for Developmental Research, Aichi Prefectural Colony, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Shimizu
authors.forename: K S
authors.initials: KS
authors.lastname: Park
authors.forename: K
authors.initials: K
authors.lastname: Omoto
mesh_terms: D002681:China; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007564:Japan; D007723:Korea; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes