Validation of a new fluorogenic real-time PCR assay for detection of CYP2C9 allelic variants and CYP2C9 allelic distribution in a German population

Br J Clin Pharmacol. 2002 Nov;54(5):518-21. doi: 10.1046/j.1365-2125.2002.01693.x.

Abstract

Aims: The aim was to develop a fast detection method for the polymorphic alleles related to impaired CYP2C9-mediated metabolism.

Methods: CYP2C9 genotypes were identified in 118 DNA samples using real-time PCR (LightCycler) followed by melting curve analysis. All samples were re-tested by validated PCR-RFLP methodology.

Results: The concordance between the two methods was 100% for two variant alleles. The frequencies of CYP2C9*1 (wild type), CYP2C9*2 and CYP2C9*3 (with 95% confidence intervals) were 0.81(0.05), 0.14(0.04) and 0.05(0.03), respectively, and are similar to those observed in other Caucasian populations.

Conclusions: This assay is simple and rapid and may be used for CYP2C9-genotyping in a clinical setting.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Aryl Hydrocarbon Hydroxylases / genetics*
  • Base Pair Mismatch
  • Cytochrome P-450 CYP2C9
  • Fluorescence
  • Genetic Variation / genetics
  • Genotype
  • Germany / ethnology
  • Humans
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Genetic / genetics
  • Polymorphism, Restriction Fragment Length

Substances

  • CYP2C9 protein, human
  • Cytochrome P-450 CYP2C9
  • Aryl Hydrocarbon Hydroxylases