Detection of CYP2D6 polymorphisms *9, *10, and *41 using ARMS-PCR and their allelic frequencies in 400 psychiatric patients [2]

Clinical Chemistry and Laboratory Medicine

Volumn 45, Issue 4, 2007, Pages 555-557

  Hinrichs, John W J ^a,b   Smallegoor, Windy D ^a   Van Baalen Benedek, Erica H ^a   Welker, Chris ^a   Van Der Weide, Jan ^a,b  

^a ST JANSDAL HOSPITAL   (Netherlands)

^b Psychiatric Hospital Meerkanten   (Netherlands)

Author keywords

Amplification refractory mutation system (ARMS) PCR; CYP2D6*41; Cytochrome P450 (CYP); Polymorphism

Indexed keywords

ANTIDEPRESSANT AGENT; CYTOCHROME P450 2D6;

ALLELE; DNA SEQUENCE; DRUG METABOLISM; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; LETTER; MENTAL PATIENT; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE;

ALLELES; BASE SEQUENCE; CYTOCHROME P-450 CYP2D6; DNA PRIMERS; GENE FREQUENCY; HUMANS; MENTAL DISORDERS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 34247338553     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2007.100     Document Type: Letter

References (17)

1. Raimundo S, Fischer J, Eichelbaum M, Griese EU, Schwab M, Zanger UM. Elucidation of the genetic basis of the common "intermediate metabolizer" phenotype for drug oxidation by CYP2D6. Pharmacogenetics 2000;10:577-81.
2. Raimundo S, Toscano C, Klein K, Fischer J, Griese EU, Eichelbaum M, et al. A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects. Clin Pharmacol Ther 2004;76:128-38.
3. Gaedigk A, Ryder DL, Bradford LD, Leeder JS. CYP2D6 poor metabolizer status can be ruled out by a single genotyping assay for the -1584G promotor polymorphism. Clin Chem 2003;49:1008-11.
4. Broly F, Meyer UA. Debrisoquine oxidation polymorphism: phenotypic consequences of a 3-basepair deletion in exon 5 of the CYP2D6 gene. Pharmacogenetics 1993;3:123-30.
5. Johansson I, Oscarson M, Yue QY, Bertilsson L, Sjoqvist F, Ingelman-Sundberg 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 1994;46:452-9.
6. Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer UA. Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am J Hum Genet 1991;48:943-50.
7. Tyndale R, Aoyama T, Broly F, Matsunaga T, Inaba T, Kalow W, et al. Identification of a new variant CYP2D6 allele lacking the codon encoding Lys-281: possible association with the poor metabolizer phenotype. Pharmacogenetics 1991;1:26-32.
8. Yokota H, Tamura S, Furuya H, Watanabe M, Kanazawa I, Kondo S, et al. Evidence for a new variant CYP2D6 allele CYP2D6J in a Japanese population associated with lower in vivo rates of sparteine metabolism. Pharmacogenetics 1993;3:256-63.
9. Kimura S, Umeno M, Skoda RC, Meyer UA, Gonzalez FJ. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am J Hum Genet 1989;45:889-904.
10. Kagimoto M, Heim M, Kagimoto K, Zeugin T, Meyer UA. Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. J Biol Chem 1990;265:17209-14.
11. Hersberger M, Marti-Jaun J, Rentsch K, 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 2000;46:1072-7.
12. Lundqvist E, Johansson I, Ingelman-Sundberg M. Genetic mechanisms for duplication and multiduplication of the human CYP2D6 gene and methods for detection of duplicated CYP2D6 genes. Gene 1999;226:327-38.
13. Griese EU, Zanger UM, Brudermanns U, Gaedigk A, Mikus G, Morike K, et al. Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population. Pharmacogenetics 1998;8:15-26.
14. Ingelman-Sundberg M. Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J 2005;5:6-13.
15. Menoyo A, del Rio E, Baiget M. Characterization of variant alleles of cytochrome CYP2D6 in a Spanish population. Cell Biochem Funct 2006;24:381-5.
16. Rasmussen JO, Christensen M, Svendsen JM, Skausig O, Hansen EL, Nielsen KA. CYP2D6 gene test in psychiatric patients and healthy volunteers. Scand J Clin Lab Invest 2006;66:79-86.
17. Roberts RL, Kennedy MA. Rapid detection of common cytochrome P450 2D6 alleles in Caucasians. Clin Chim Acta 2006;366:348-51.