title: [Molecular analysis of thalassemia].
abstract: Molecular analysis of gene structure using PCR related techniques has been described. These techniques were applied to analysis of the beta-globin gene from Japanese individuals with beta-thalassemia. We found one promoter mutation, two splicing mutations, two frameshift mutations, one nonsense mutation. We also detected three different mutations within the third exon. They produced highly unstable globin variants, leading a dominantly inherited beta-thalassemia phenotype. Six of nine different mutations seem to originate in Japanese. Characteristics of molecular defects of Japanese beta-thalassemia was discussed in terms of malaria hypothesis.
authors.affiliation: Research Laboratory for Genetic Information, Kyushu University.
authors.forename: Y
authors.initials: Y
authors.lastname: Fukumaki
mesh_terms: D001483:Base Sequence; D005796:Genes; D005914:Globins / Q000235:genetics; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins