Novel Structure of the CYP2D6 Gene that Confuses Genotyping for the CYP2D645 Allele

Drug Metabolism And Pharmacokinetics

Volumn 20, Issue 5, 2005, Pages 345-350

  Fukuda, Tsuyoshi ^a   Maune, Hiromi ^a   Ikenaga, Yuka ^a   Naohara, Masakazu ^a   Fukuda, Kazuhiro ^a   Azuma, Junichi ^a  

^a OSAKA UNIVERSITY   (Japan)

Author keywords

CYP2D6; CYP2D6*5; genetic polymorphism; genotyping

Indexed keywords

CYTOCHROME P450 2D6; PRIMER DNA;

ALLELE; ARTICLE; DNA SEQUENCE; EVALUATION; GENE DELETION; GENE FREQUENCY; GENETICS; GENOTYPE; HUMAN; JAPAN; MALE; METHODOLOGY; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SOUTHERN BLOTTING;

ALLELES; BLOTTING, SOUTHERN; CYTOCHROME P-450 CYP2D6; DNA PRIMERS; GENE DELETION; GENE FREQUENCY; GENOTYPE; HUMANS; JAPAN; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA;

EID: 33644694277     PISSN: 13474367     EISSN: 18800920     Source Type: Journal    
DOI: 10.2133/dmpk.20.345     Document Type: Article

References (14)

1. Cholerton, S., Daly, A. K. and Idle, J. R.: The role of individual human cytochromes P450 in drug metabolism and clinical response. Trends Pharmacol. Sci., 13(12): 434-439 (1992).
2. Dahl, M. L., Yue, Q. Y., Roh, H. K., Johansson, I., Sawe, J., Sjoqvist, F. and et al.: Genetic analysis of the CYP2D locus in relation to debrisoquine hydroxylation capacity in Korean, Japanese and Chinese subjects. Pharmacogenetics, 5(3): 159-164 (1995).
3. Steen, V. M., Andreassen, O. A., Daly, A. K., Tefre, T., Borresen, A. L., Idle, J. R. and et al.: Detection of poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology. Pharmacogenetics, 5(4): 215-223 (1995).
4. Johansson, I., Lundqvist, E., Dahl, M. L. and Ingelman, S. M.: PCR-based genotyping for duplicated and deleted CYP2D6 genes. Pharmacogenetics, 6(4): 351-355 (1996).
5. Hersberger, M., Marti-Jaun, J., Rentsch, K. and Hanseler, E.: Rapid detection of the CYP2D6*3, CYP2D6*4, and CYP2D6*6 alleles by tetra-primer PCR and of the CYP2D6*5 allele by multiplex long PCR. Clin. Chem., 46(8 Pt 1): 1072-1077 (2000).
6. Nishida, Y., Fukuda, T., Yamamoto, I. and Azuma, J.: CYP2D6 genotypes in a Japanese population: low frequencies of CYP2D6 gene duplication but high frequency of CYP2D6*10. Pharmacogenetics, 10(6): 567-570 (2000).
7. Skoda, R. C., Gonzalez, F. J., Demierre, A. and Meyer, U. A.: Two mutant alleles of the human cytochrome P-450db1 gene (P450C2D1) associated with genetically deficient metabolism of debrisoquine and other drugs. Proc. Natl. Acad. Sci. U S A, 85(14): 5240-5243 (1988).
8. Johansson, I., Oscarson, M., Yue, Q. Y., Bertilsson, L., Sjoqvist, F. and Ingelman, S. M.: Genetic analysis of the Chinese cytochrome P4502D locus: characterization of variant CYP2D6 genes present in subjects with diminished capacity for debrisoquine hydroxylation. Mol. Pharmacol., 46(3): 452-459 (1994).
9. Heim, M. H. and Meyer, U. A.: Evolution of a highly polymorphic human cytochrome P450 gene cluster: CYP2D6. Genomics, 14(1): 49-58 (1992).
10. Panserat, S., Mura, C., Gerard, N., Vincent-Viry, M., Galteau, M. M., Jacoz-Aigrain, E. and et al.: An unequal cross-over event within the CYP2D gene cluster generates a chimeric CYP2D7/CYP2D6 gene which is associated with the poor metabolizer phenotype. Br. J. Clin. Pharmacol., 40(4): 361-367 (1995).
11. Maune, H., Fukuda, T., Naohara, M., Ikenaga, Y., Otani, M., Yamamoto, I. and Azuma, J.: Jpn. J. Clin. Pharmacol. Ther. 33(2) 379S-380S (2002). (in Japanese).
12. Ishiguro, A., Kubota, T., Sasaki, H. and Iga, T.: A long PCR assay to distinguish CYP2D6*5 and a novel CYP2D6 mutant allele associated with an 11-kb EcoRI haplotype. Clin. Chim. Acta.,: 347(1-2): 217-221 (2004).
13. Chida, M., Ariyoshi, N., Yokoi, T., Nemoto, N., Inaba, M., Kinoshita, M. and Kamataki, T.: New allelic arrangement CYP2D6*36á2 found in a Japanese poor metabolizer of debrisoquine. Pharmacogenetics, 12(8): 659-662 (2002).
14. Schaeffeler, E., Schwab, M., Eichelbaum, M. and Zanger, U. M.: CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-time PCR. Hum. Mutat., 22(6): 476-485 (2003)