Journal ArticleDOI
Detection of the poor metabolizer-associated CYP2D6(D) gene deletion allele by long-PCR technology
Vidar M. Steen,Ole A. Andreassen,Ann K. Daly,Toril Tefre,Anne Lise Børresen,Jeffrey R. Idle,Anne Karin Gulbrandsen +6 more
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TLDR
A rapid assay which, for the first time, detects the 13kb Xba I gene deletion allele by the use of long-PCR technology and will improve the scientific and clinical use of CYP2D6 genotyping.Abstract:
The cytochrome P450 enzyme debrisoquine 4-hydroxylase metabolizes many different classes of commonly used drugs, such as antidepressants and neuroleptics. Deficient hydroxylation of debrisoquine, known as the poor metabolizer (PM) phenotype, affects 5- 10% of Caucasians and may lead to adverse reactread more
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Journal Article
Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences.
TL;DR: A solid basis is provided for prediction of CYP2D6 capacity, as required in drug research and routine drug treatment, and significant differences in enzymatic activity measured by the dextromethorphan metabolic ratio (MR) are shown.
Journal ArticleDOI
Polymorphism of human cytochrome P450 2D6 and its clinical significance: part II.
TL;DR: There is a considerable variability in the CYP2D6 allele distribution among different ethnic groups, resulting in variable percentages of PMs, IMs, EMs and UMs in a given population and the number of alleles is still growing.
Journal ArticleDOI
Polymorphism of human cytochrome P450 enzymes and its clinical impact
TL;DR: Current pharmacogenetic knowledge on important human drug-metabolizing cytochrome P450s (CYPs) is highlighted to understand the large interindividual variability in drug clearance and responses in clinical practice and to improve the efficacy and safety of both prospective and currently available drugs.
Journal ArticleDOI
The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype.
TL;DR: The utility of an “activity score” (AS) system to simplify genotype interpretation and improve phenotype prediction was evaluated and was most accurate if ethnicity was considered; among subjects with genotypes containing a CYP2D6*2 allele, CYP1D6 activity was significantly slower in African Americans compared to Caucasians.
Journal ArticleDOI
Molecular mechanisms of genetic polymorphisms of drug metabolism.
Urs A. Meyer,Ulrich M. Zanger +1 more
TL;DR: Analysis of allele frequencies in different populations revealed major differences, thereby tracing the molecular history and evolution of these polymorphisms.
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Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification.
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