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

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

In: European Journal of Clinical Pharmacology, 2003, vol. 59, no. 4, p. 343-346

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    Summary
    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