Determination of -3858G → A and -164C → A genetic polymorphisms of CYP1A2 in blood and saliva by rapid allelic discrimination: Large difference in the prevalence of the -3858G → A mutation between Caucasians and Asians

Liliane Todesco, Michael Török, Stephan Krähenbühl, Markus Wenk*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

Abstract

Introduction: Two mutations in CYP1A2, -164C → A (allele CYP1A2*F) and -3858G → A (allele CYP1A2*C), affecting the inducibility of the enzyme, have been published. The aim of this study was to develop a high throughput allelic discrimination assay for these mutations in both saliva and blood and to determine their frequency in Caucasians. Methods: An allelic discrimination assay, based on the fluorogenic 5′-nuclease activity (TaqMan), was developed for the two mutations. Genomic DNA extracted from 17 saliva and 100 blood samples from Caucasians was analysed. Results and conclusions: For the -164C → A mutation, we found an allelic frequency of 68% in the Caucasian population, comparable with data published for Asians and Caucasians. For the -3858G → A mutation, the allele frequency was only 2% in Caucasians, a much lower value than the 25% reported in Asians (P < 0.001). The presented allelic discrimination allows fast and accurate detection of these two mutations. Genotype calls were 100% identical for DNA from saliva and blood. Saliva is easily accessible and represents an excellent alternative to the traditionally used venous blood for genotyping.

Original languageEnglish
Pages (from-to)343-346
Number of pages4
JournalEuropean Journal of Clinical Pharmacology
Volume59
Issue number4
DOIs
Publication statusPublished - 1 Aug 2003
Externally publishedYes

Keywords

  • CYP1A2
  • Genotyping
  • Inducibility

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