title: Genetic polymorphisms of gene conversion within the duplicated human alpha-globin loci.
abstract: Of the 645 Japanese subjects studied, we have identified 10 individuals heterozygous for a chromosome with the triplicated alpha-globin loci. The frequency of the triple alpha-loci was 0.008 in this population, while that of the single alpha-locus, i.e., alpha-thalassemia 2 gene, might be lower than 0.0008. Analysis of haplotypes using particular RsaI site polymorphism in the alpha-globin gene complex strongly suggests that the triple alpha loci may have had multiple origins in this population.
authors.affiliation: Department of Human Genetics, National Institute of Genetics, Mishima, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakashima
authors.forename: A
authors.initials: A
authors.lastname: Fujiyama
authors.forename: S
authors.initials: S
authors.lastname: Kagiyama
authors.forename: T
authors.initials: T
authors.lastname: Imamura
mesh_terms: D005785:Gene Conversion; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007564:Japan; D005810:Multigene Family; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid
chemical_list: D005914:Globins