title: Genetic polymorphism of CYP2D6 in the Japanese population.
abstract: The frequencies of CYP2D6 mutations in a Japanese population were investigated. Individuals were classified into three groups: control individuals, cancer patients and Parkinsonians. Genotyping for CYP2D6*3, CYP2D6*4 and CYP2D6*18 was carried out using the polymerase chain reaction, and that for CYP2D6*5 was also carried out using XbaI restriction fragment length polymorphism. The frequencies of the CYP2D6*3, CYP2D6*4, CYP2D6*5 and CYP2D6*18 mutant alleles were 0%, 0.77%, 4.10% and 0.53% in more than 256 Japanese control individuals, respectively. Based on these data, the population frequency of the CYP2D6 poor metabolizer phenotype was estimated to be 0.29%. The distribution of the four mutated alleles was not significantly different between control individuals and cancer patients or Parkinsonians.
authors.affiliation: Division of Pharmacobio-dynamics, Graduate School of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Chida
authors.forename: T
authors.initials: T
authors.lastname: Yokoi
authors.forename: Y
authors.initials: Y
authors.lastname: Kosaka
authors.forename: K
authors.initials: K
authors.lastname: Chiba
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: T
authors.initials: T
authors.lastname: Ishizaki
authors.forename: J
authors.initials: J
authors.lastname: Yokota
authors.forename: M
authors.initials: M
authors.lastname: Kinoshita
authors.forename: K
authors.initials: K
authors.lastname: Sato
authors.forename: M
authors.initials: M
authors.lastname: Inaba
authors.forename: Y
authors.initials: Y
authors.lastname: Aoki
authors.forename: F J
authors.initials: FJ
authors.lastname: Gonzalez
authors.forename: T
authors.initials: T
authors.lastname: Kamataki
mesh_terms: D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics* / Q000378:metabolism; D017931:DNA Primers / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D007564:Japan; D009154:Mutation; D009369:Neoplasms / Q000201:enzymology / Q000235:genetics; D010300:Parkinson Disease / Q000201:enzymology / Q000235:genetics; D010597:Pharmacogenetics; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D017931:DNA Primers; D019389:Cytochrome P-450 CYP2D6