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 |
| |
Authors: | Todesco Liliane Török Michael Krähenbühl Stephan Wenk Markus |
| |
Affiliation: | (1) Department of Internal Medicine, Division of Clinical Pharmacology and Toxicology, University Hospital, 4031 Basel, Switzerland |
| |
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. |
| |
Keywords: | CYP1A2 Inducibility Genotyping |
本文献已被 PubMed SpringerLink 等数据库收录! |
|