Accurate determination of the CYP2D6 (∗1/∗4)xN genotype by quantitative PCR

Kirsten M. Pondman*, Ron H.N. Van Schaik, Jan Van Der Weide

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


CYP2D6 is responsible for the metabolism of approximately 25% of all drugs. The expression of cytochrome P450 2D6 (CYP2D6) is influenced by a combination of factors including polymorphisms in the CYP2D6 gene. Analysis of the CYP2D6 genotype is used to personalize the medication to a patient's metabolism. Although many genotypes can be determined using standard genotype analysis, in some cases, an incomplete analysis is performed. The CYP2D6 genotype ∗1/∗4 often occurs in combination with a multiplication of the CYP2D6 gene, and is reported as (∗1/∗4)xN. Accurate determination of the multiplied gene is essential to provide a phenotype prediction for these patients. Duplication of the ∗1 gene leads to an extensive metabolizer genotype whereas multiplication of the ∗4 gene would not lead to extra functional enzyme and therefore provides an intermediate metabolizer phenotype. Here, a technique is described in which the copy numbers of both the ∗4 and ∗1 genes are determined using quantitative PCR techniques. This technique provides a method to predict the patient's CYP2D6 phenotype, and is therefore an important step toward personalized medicine.

Original languageEnglish
Pages (from-to)33-39
Number of pages7
JournalDrug Metabolism and Personalized Therapy
Issue number1
Publication statusPublished - 1 Mar 2018
Externally publishedYes


  • copy number variations (CNV)
  • CYP2D6
  • pharmacogenetics
  • ultrarapid metabolizer


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