【摘要】 目的 研究福州地区汉族人群CYP2C19基因多态性分布及其与氯吡格雷代谢相关性，并比较不同方法在CYP2C19基因检测方面的差异。方法 2021年3-7月于福建省立医院采集324例福州地区汉族人群的静脉抗凝血，提取基因组DNA,采用实时荧光定量PCR法与荧光PCR毛细管电泳法分别进行CYP2C19基因多态性检测，比较同一标本两种方法检测的等位基因及基因型结果。选取100例研究对象的CYP2C19基因分型检测结果对两种方法的一致性进行验证，两种方法间结果的一致性采用Kappa检验。计算福州地区汉族人群CYP2C19基因的等位基因频率与基因型频率。结果 采用实时荧光定量PCR法与荧光PCR毛细管电泳法分别检测100例福州地区汉族人群的CYP2C19基因多态性，两种方法一致性为100%(Kappa=1.000,P<0.05)。在324例福州地区汉族人群中共检出CYP2C19*1、CYP2C19*2、CYP2C19*3、CYP2C19*17 4种等位基因，等位基因频率分别为58.18%、37.65%、3.24%和0.93%;共检出CYP2C19*1/*1、CYP2C19*1/*2、CYP2C19*1/*3、CYP2C19*1/*17、CYP2C19*2/*2、CYP2C19*2/*3、CYP2C19*2/*17、CYP2C19*3/*17 8种基因型，基因型频率分别为34.26%、43.52%、3.09%、1.23%、14.20%、3.09%、0.31%、0.31%,未发现CYP2C19*3/*3和*17/*17纯合子基因型。根据CYP2C19基因型分布将福州地区汉族人群氯吡格雷代谢类型分为强代谢型、中间代谢型和弱代谢型，其比例分别为34.26%、47.84%和17.90%。结论 实时荧光定量PCR法与荧光PCR毛细管电泳法在CYP2C19基因多态性检测中具有良好一致性，可应用于人群CYP2C19基因多态性检测；福州地区汉族人群中CYP2C19*1等位基因频率最高，CYP2C19*17等位基因频率最低，含有CYP2C19*2等位基因的基因型是构成福州地区汉族人群氯吡格雷弱代谢型的主要类型，福州地区汉族人群中氯吡格雷中间代谢型比例最高，对临床使用抗凝药物氯吡格雷进行抗血栓治疗具有指导意义。更多还原

【Abstract】 Objective To study the correlation between CYP2 C19 gene distribution polymorphism and clopidogrel metabolism in Fuzhou Han population, and to discuss the consistency of CYP2 C19 genotypes detected by using two PCR-based approaches.Methods From March to July 2021,324 cases of intravenous anticoagulant blood samples from Fuzhou Han population were collected in Fujian Provincial Hospital, and genomic DNA was extracted.The polymorphism of CYP2 C19 gene was detected by real-time fluorescence quantitative PCR and fluorescence PCR capillary electrophoresis respectively, the alleles and genotypes of the same sample detected by the two methods were compared.CYP2 C19 genotyping results of 100 subjects were selected to verify the consistency of the two methods, and Kappa test was used to verify the consistency of results between the two methods. Allele frequency and genotype frequency of CYP2 C19 gene in Fuzhou Han population were calculated.Results Real-time fluorescence quantitative PCR and fluorescence PCR capillary electrophoresis were used to detect CYP2 C19 gene polymorphism in 100 cases of Han population in Fuzhou area.The consistency of the two methods was 100%(Kappa=1.000,P<0.05).Four alleles including CYP2 C19*1,CYP2 C19*2,CYP2 C19*3 and CYP2 C19*17 were detected in 324 cases of Han population in Fuzhou, with allele frequencies of 58.18%,37.65%,3.24% and 0.93% respectively.A total of 8 genotypes were detected including CYP2 C19*1/*1,CYP2 C19*1/*2,CYP2 C19*1/*3,CYP2 C19*1/*17,CYP2 C19*2/*2,CYP2 C19*2/*3,CYP2 C19*2/*17 and CYP2 C19*3/*17,genotype frequencies were 34.26%,43.52%,3.09%,1.23%,14.20%,3.09%,0.31%,0.31% respectively.CYP2 C19*3/*3 and *17/*17 were not detected.According to CYP2 C19 genotype distribution, clopidogrel metabolism in Fuzhou Han population was divided into strong metabolic type, intermediate metabolic type and weak metabolic type, with the proportion of 34.26%,47.84% and 17.90% respectively.Conclusion Fluorescence quantitative PCR and fluorescence PCR capillary electrophoresis CYP2 C19 gene detection have good consistency and could be effectively applied in laboratory examination.The frequency of CYP2 C19*1 allele was the highest in fuzhou Han population, and the frequency of CYP2 C19*17 allele was the lowest.The genotype containing CYP2 C19*2 allele was the main type of clopidogrel weak metabolic type in Fuzhou Han population, and the proportion of clopidogrel intermediate metabolic type was the highest in Fuzhou Han population.It has guiding significance for clinical antithrombotic therapy with clopidogrel.更多还原