TY - JOUR
T1 - Determination of -3858G → A and -164C → A genetic polymorphisms of CYP1A2 in blood and saliva by rapid allelic discrimination
T2 - Large difference in the prevalence of the -3858G → A mutation between Caucasians and Asians
AU - Todesco, Liliane
AU - Török, Michael
AU - Krähenbühl, Stephan
AU - Wenk, Markus
PY - 2003/8/1
Y1 - 2003/8/1
N2 - 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.
AB - 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.
KW - CYP1A2
KW - Genotyping
KW - Inducibility
UR - http://www.scopus.com/inward/record.url?scp=0041911323&partnerID=8YFLogxK
U2 - 10.1007/s00228-003-0623-1
DO - 10.1007/s00228-003-0623-1
M3 - Article
AN - SCOPUS:0041911323
SN - 0031-6970
VL - 59
SP - 343
EP - 346
JO - European Journal of Clinical Pharmacology
JF - European Journal of Clinical Pharmacology
IS - 4
ER -