Mar 17, 2007

Pharmacogenetic screening of the gene deletion and duplications of CYP2D6

Drug Metabolism Reviews
Irma MeijermanJan H M Schellens


Cytochrome P450 (CYP) 2D6 is one of the most important enzymes involved in the metabolism of drugs. Multiple, clinically relevant, genetic variants of this gene have been identified and, among them, a gene deletion as well as multiplications of the gene. These large structural mutations in CYP2D6 occur at a relatively high frequency in several populations. Genotyping of CYP2D6 could therefore be applied to individualize drug therapy to improve therapeutic efficacy and decrease adverse effects in patients. However, a prerequisite for the pharmacogenetic screening of CYP2D6 in a clinical setting is the development of fast, reliable and cost-effective techniques for the routine genotyping of patients. In the case of CYP2D6, besides the general problems that arise in the detection of large gene deletions and multiplications, the presence of two highly homologous pseudogenes, CYP2D7 and CYP2D8, forms an extra challenge. This review provides an overview of the techniques that have been described to detect the CYP2D6 gene deletion and multiplication: Southern-blotting RFLP, long-template PCR, and real-time PCR. Of these techniques, real-time PCR is the only technique giving quantitative information about the exact copy number of the g...Continue Reading

  • References49
  • Citations18

Mentioned in this Paper

Metabolic Process, Cellular
Real-Time Polymerase Chain Reaction
Enzymes, antithrombotic
High Throughput Screening
Cytochrome P450
Gene Deletion Abnormality
Gene Deletion
Adverse Effects
Cytochrome P-450 CYP2D6

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