title: Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
abstract: Acatalasemia was one of the earliest described genetic enzyme defects. In 1990, a causal point mutation (a splicing mutation) was first reported in a Japanese patient with acatalasemia. In the present study, the polymerase chain reaction and single-strand conformation polymorphism analysis were used to determine whether the same point mutation was present in unrelated Japanese patients. The subjects studied were the previously examined acatalasemic female, her brother, who is hypocatalasemic, and two other unrelated acatalasemic patients. A single G to A point mutation at the fifth position of intron 4, identical to that previously found, was present in all the studied patients. This finding strongly suggests that only a single mutated allele has spread in the Japanese population.
authors.affiliation: Oncogene Division, National Cancer Center Research Institute, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kishimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Murakami
authors.forename: K
authors.initials: K
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Takahara
authors.forename: T
authors.initials: T
authors.lastname: Sugimura
authors.forename: T
authors.initials: T
authors.lastname: Sekiya
mesh_terms: D020642:Acatalasia; D000483:Alleles; D001483:Base Sequence; D002374:Catalase / Q000235:genetics*; D002478:Cells, Cultured; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005796:Genes; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D012016:Reference Values; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D009838:Oligodeoxyribonucleotides; D004247:DNA; D002374:Catalase