Characterization of Abnormalities in the γ-Globin Gene Arrangements of Japanese Newborns

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Abstract
Cord blood samples from 889 healthy Japanese newborns from three districts of Honshu Island were studied with the purpose of characterizing the γ-globin genes in the Japanese. The AγT gene frequency was 0.159 which is the same as that found elsewhere in Japan. The haplotype of the chromosome with the found elsewhere AγT gene was [-+ + - + (+ or -) (+ or -)] at eight polymorphic sites. Data from analyses of DNA and the proportion of γ chains in Hb F showed the existence of various kinds of γ-globin gene arrangements; six genotypes were observed for individuals with high Gγ values and triple or quadruple γ-globin gene arrangements, and seven genotypes for babies with low Gγ values and a single γ-globin gene. The in vivo expression of the γ-globin gene located at the third or fourth position in the multiple gene arrangement was found to be about 5% and 2.5% of the total, respectively. The haplotype for the chromosomes with a triple γ-globin gene was [+ — (-) — +], but that for the chromosomes with a single γ-globin gene remains unclear. In addition, a new type of Bgl II polymorphism in the Gγ-globin gene was observed.