关键词: CYP2C19, 基因型, 等位基因特异荧光PCR, DNA直接测序

Abstract: Objective To explore the distribution of CYP2C19 genotype in the population and evaluate the method of allele specific fluorescent polymerase chain reaction (PCR) for CYP2C19 genotyping. Methods Peripheral blood specimens were collected from 356 donors as samples. The techniques of allele specific fluorescent PCR and gold standard DNA direct sequencing were used for CYP2C19 genotyping with a blind synchro-method. Results PCR assay detected 46.6% (166/356) CYP2C19*1/*1 types, 33.2% (118/356) CYP2C19*1/*2 types, 10.7% (38/356) CYP2C19*2/*2 type, 2.0% (7/356) CYP2C19*2/*3 types, 0.8% (3/356) CYP2C19*3/*3 types, and 6.7% (24/356) CYP2C19*1/*3 types. DNA sequencing detected 46.3% (165/356) CYP2C19*1/*1 types, 33.4% (119/356) CYP2C19*1/*2 types, 11.0% (39/356) CYP2C19*2/*2 type, 2.0% (7/356) CYP2C19*2/*3 types, 0.8% (3/356) CYP2C19*3/*3 types, and 6.5% (23/356) CYP2C19*1/*3 types. It is consistent for the two methods detecting CYP2C19 genotype (χ2=3.000，P=0.392), and in good agreement (Kappa = 0.987); The coincidence rate was 99.2% for genotyping results by two methods. Conclusions CYP2C19 genotype testing should be carried out in the clinical laboratory for the medication safety; fluorescent PCR assay for CYP2C19 genotyping is simple and reliable.

Key words: CYP2C19, genotype, allele-specific fluorescent PCR, DNA direct sequencing