A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency

Human Genetics

Volumn 96, Issue 5, 1995, Pages 601-603

  Broly, F ^a   Marez, D ^a   Lo Guidice, J M ^a   Sabbagh, N ^a   Legrand, M ^a   Boone, P ^a   Meyer, U A ^b  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY OF BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450;

ARTICLE; CASE REPORT; CAUCASIAN; ENZYME DEFICIENCY; EXON; GENE AMPLIFICATION; GENE SEQUENCE; HUMAN; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

BASE SEQUENCE; CAUCASOID RACE; CYTOCHROME P-450 CYP2D6; CYTOCHROME P-450 ENZYME SYSTEM; CYTOCHROME-C OXIDASE DEFICIENCY; HUMAN; MIXED FUNCTION OXYGENASES; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SUPPORT, NON-U.S. GOV'T;

EID: 0028806579     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00197419     Document Type: Article

References (21)

1. Genetic basis for differences in debrisoquin polymorphism between a Spanish and other white populations
2. Mutant debrisoquine hydroxylation genes in Parkinson's disease
3. Debrisoquine oxidation polymorphism: phenotypic consequences of a 3-base-pair deletion in exon 5 of the CYP2D6 gene
4. Poor metaboliser of nicotine and CYP2D6 polymorphism
5. A tobacco smoke-derived nitrosamine, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, is activated by multiple human cytochrome P450s including the polymorphic human cytochrome P4502D6
6. Metabolic polymorphisms
7. Polymorphic oxidation of sparteine and debrisoquine: related pharmacogenetic entities
8. A missense mutation in exon 6 o the CYP2D6 gene leading to histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine
9. Deletion of the entire cytochrome P 450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism
10. Pharmacogenetic phenotyping and genotyping. Present status and future potential
11. Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification
12. New opportunities in cancer risk evaluation using PCR-based DNA analysis for CYP2D6
13. 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
14. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene and a pseudogene
15. Relationship between personality and debrisoquine hydroxylation capacity. Suggestion of an endogenous neuroactive substrate or product of the cytochrome P4502D6
16. Genetic polymorphism of cytochrome P450 CYP2D6 in Zimbabwean population
17. The molecular basis of genetic polymorphisms of drug metabolism
18. Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype
19. Two mutant alleles of the human cytochrome P450db1 gene (P450C2D1) associated with geneticall deficient metabolism of debrisoquine and other drugs
20. Clinical implications of genetic polymorphism in drug metabolism
21. Progression of cervical intraepithelial neoplasia to cervical cancer: interactions of cytochrome P450 CYP2D6 EM and glutathione S-transferase GSTM1 null genotypes and cigarette smoking