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  • Title: Genetic polymorphism of CYP2D6 in the Japanese population.
    Author: Chida M, Yokoi T, Kosaka Y, Chiba K, Nakamura H, Ishizaki T, Yokota J, Kinoshita M, Sato K, Inaba M, Aoki Y, Gonzalez FJ, Kamataki T.
    Journal: Pharmacogenetics; 1999 Oct; 9(5):601-5. PubMed ID: 10591540.
    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.
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