title: Characterization of abnormalities in the gamma-globin gene arrangements of Japanese newborns.
abstract: Cord blood samples from 889 healthy Japanese newborns from three districts of Honshu Island were studied with the purpose of characterizing the gamma-globin genes in the Japanese. The A gamma T gene frequency was 0.159 which is the same as that found elsewhere in Japan. The haplotype of the chromosome with the A gamma T gene was [-- ++ - + (+ or -) (+ or -)] at eight polymorphic sites. Data from analyses of DNA and the proportion of gamma chains in Hb F showed the existence of various kinds of gamma-globin gene arrangements; six genotypes were observed for individuals with high G gamma values and triple or quadruple gamma-globin gene arrangements, and seven genotypes for babies with low G gamma values and a single gamma-globin gene. The in vivo expression of the gamma-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 gamma-globin gene was [+ --(-)---- +], but that for the chromosomes with a single gamma-globin gene remains unclear. In addition, a new type of Bgl II polymorphism in the G gamma-globin gene was observed.
authors.affiliation: Division of Biochemistry, Kawasaki Medical School, Kurashiki, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Harano
authors.forename: K
authors.initials: K
authors.lastname: Harano
authors.forename: M
authors.initials: M
authors.lastname: Ukita
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
authors.forename: A
authors.initials: A
authors.lastname: Hayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Ohba
authors.forename: T
authors.initials: T
authors.lastname: Miyaji
authors.forename: F
authors.initials: F
authors.lastname: Kutlar
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D005312:Fetal Blood / Q000032:analysis; D015321:Gene Rearrangement; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn / Q000097:blood*; D007564:Japan; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D005914:Globins