Characterization and PCR-based detection of two different hybrid CYP2D7P/CYP2D6 alleles associated with the poor metabolizer phenotype

Pharmacogenetics

Volumn 6, Issue 4, 1996, Pages 319-328

  Daly, Ann K ^a   Fairbrother, Karen S ^a   Andreassen, Ole A ^b   London, Stephanie J ^c,d   Idle, Jeffrey R ^a,e   Steen, Vidar M ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

^e NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

Author keywords

CYP2D6; Cytochrome P450; Debrisoquine; Polymorphism

Indexed keywords

CYTOCHROME P450 ISOENZYME; DEBRISOQUINE; DNA;

ALLELE; ARTICLE; CAUCASIAN; EUROPE; EXON; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HYBRID GENE; METABOLISM; NORMAL HUMAN; NORTH AMERICA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING; TECHNIQUE;

EID: 0029736710     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-199608000-00005     Document Type: Article

References (24)

1. Alvan G, Bechtel P, Iselius L, Gundert-Remy U. Hydroxylation polymorphisms of debrisoquine and mephenytoin in European populations. Eur J Clin Pharmacol 1990: 39, 533-537.
2. Broly F, Gaedigk A, Heim M, Eichelbaum M, Morike K, Meyer UA. Debrisoquine/sparleine hydroxylation genotype and phenotype: analysis of common mutations and alleles of CYP2D6 in a European population. DNA Cell Biol 1991: 10, 545-558.
3. Broly F, Marez D, Sabbagh N, Legrand M, Boone P, Meyer UA. An efficient strategy for detection of known and new mutations of the CYP2D6 gene using single strand conformation polymorphism analysis. Pharmacogenetics 1995: 5, 373-384.
4. Cholerton S, Daly AK, Idle JR. The role of individual human cytochromes P450 in drug metabolism and clinical response. Trends Pharmacol Sci 1992: 13, 434-438.
5. Daly AK, Armstrong M, Monkman SC, Idle ME, Idle JR. The genetic and metabolic criteria for the assignment of debrisoquine hydroxylation (cytochrome P450IID6) phenotypes. Pharmacogenetics 1991: 1, 33-41.
6. Daly AK, Leathart JBS, London SJ, Idle JK. An inactive cytochrome P450 CYP2D6 allele containing a deletion and a base substitution. Human Genetics 1995: 95, 337-341.
7. Daly AK, Brockmoller J, Broly F, Eichelbaum M, Evans WE, Gonzalez FJ, Huange J-D, Idle JR. Ingelman-Sundberg M, Ishizaki T, Jacqz-Aigrain E, Meyer UA, Nebert DW, Steen VM, Wolf CR, Zanger UM. Nomenclature for human CYP2D6 alleles. Pharmacogenetics 1996: 3, 195-201.
8. Eichelbaum M, Spannbrucker N, Steincke B, Dengler HJ. Defective N-oxidation of sparteine in man: a new pharmacogenetic defect. Eur J Clin Pharmacol 1979: 17, 153-155.
9. Evans DAP, Mahgoub A, Sloan TP, Idle JR, Smith RL. A family and population study of the genetic polymorphism of debrisoquine oxidation in a white British population. J Med Genet 1980: 17, 102-105.
10. Evans DAP, Harmer D, Downham DY, Whibley EJ, Idle JR, Ritchie J, Smith RL. The genetic control of sparteine and debrisoquine metabolism in man with new methods of analysing bimodal distributions. J Med Genet 1983: 20, 321-329.
11. 1795 in exon 3 generates a premature stop codon. Pharmacogenetics 1994a: 4, 271-274.
12. Evert B, Griese E-U, Eichelbaum M. A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine to proline exchange-is associated with the poor metabolizer phenotype of sparteine. Naunyn-Schmiedeberg's Arch Pharmacol 1994b: 350, 454-459.
13. Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer UA. Deletion of the entire cytochrome P450 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/ sparteine polymorphism. Am J Hum Genet 1991: 48, 943-950.
14. 1934 to A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3′ splice recognition site. Am J Hum Genet 1990: 47, 994-1001.
15. Heim MH, Meyer UA. Evolution of a highly polymorphic human cytochrome P450 gene cluster: CYP2D6. Genomics 1992: 14, 49-58.
16. Kimura S, Umeno M, Skoda RC, Meyer UA, Gonzalez FJ. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of a polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am J Hum Genet 1989: 45, 889-905.
17. London SJ, Daly AK, Cooper J, Navidi WC, Carpenter CL, Idle JR. Polymorphism of glutathione S-transferasc M1 (GSTM 1) and risk of lung cancer among African-Americans and Caucasians in Los Angeles county. J Natl Cancer Inst 1995: 87, 1246-1253.
18. Mahgoub A, Idle JR, Dring LG, Lancaster R, Smith RL. Polymorphic hydroxylalion of debrisoquine in man. Lancet 1977: ii, 584-586.
19. Marez D, Sabbagh N, Legrand M, Lo-Guidice JM, Boone P, Broly F. A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype. Pharmacogenetics 1995: 5, 305-311.
20. Panserat S, Mura C, Gerard N, Vincent-Viry M, Galteau MM, Jacqz-Aigrain E, Krishnamoorthy R. 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 1995: 40, 361-367.
21. Skoda RC, Gonzalez FJ, Demierre A, Meyer UA. Two mutant alleles of the human cytochrome P450db1 gene (P450C2D1) associated with genetically deficient metabolism of debrisoquine and other drugs, Proc Natl Acad Sci USA 1988: 85, 5240-5243.
22. Steen VM, Andreassen OA, Daly AK, Tefre T, Borresen A-L, Idle JR, Gulbrandsen A-K. Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology. Pharmacogenetics 1995a: 5, 215-225.
23. Steen VM, Molven A, Aarskog NK, Gulbrandsen A-K, Homologous unequal cross-over involving a 2.8kb direct repeat as a mechanism for the generation of allelic variants of the human cytochrome P450 CYP2D6 gene. Hum Mol Genet 1995b: 4, 2251-2257.
24. Tefre T, Daly AK, Armstrong M, Leathart JBS, Idle JR, Brogger A, Borresen A-L. Genotyping of the CYP2D6 gene in Norwegian lung cancer patients and controls. Pharmacogenetics 1994: 4, 47-57.