摘要
目的基于变性高效液相色谱技术,建立一种快速检测环氧化物水解酶(EPHX1)基因多态位点rs4653436(G>A)的基因分型方法。方法标准酚-氯仿法提取275例健康人外周血基因组DNA,应用聚合酶链反应/变性高效液相色谱(PCR/DHPLC)方法检测rs4653436(G>A)位点基因型。结果275例无关个体中,基因型GG、GA和AA分别有176例、93例和6例,各占64.0%、33.8%和2.2%,G和A等位基因的频率分别为80.9%和19.1%。结论变性高效液相色谱技术检测EPHX1rs4653436基因型简便、准确,为研究rs4653436多态性与华法林用量个体差异的相关性打下基础。
Objective To develop a genotyping assay for detection of EPHX1 rs4653436 polymorphism by using denaturing high performance liquid chromatography（DHPLC）. Methods Genome DNA samples of 275 normal subjects were extracted by phenolchloroform method from peripheral blood. A PCR/DHPLC genotyping assay was developed to detect the genotypes of EPHX1 rs4653436 in the subjects. Results Among the 275 individuals,the numbers of GG,GA and AA genotype were 176,93 and 6,with the frequencies of 64.0% ,33.8% and 2.2% ,respectively. The frequencies of G and A allele were 80.9% and 19.1% ,respectively. Conclusion The DHPLC assay for detection of EPHX1 rs4653436 polymorphism is simple and accurate,which is helpful for the further study of the association of the EPHX1 rs4653436 polymorphism with individual warfarin dose requirement.
出处
《重庆医学》
CAS
CSCD
北大核心
2010年第7期780-781,I0001,共3页
Chongqing medicine
基金
贵州省科技厅基金资助项目(黔科合J字[2008]2296号)
关键词
环氧化物水解酶
基因多态性
华法林
microsomal epoxide hydrolase
gene polymorphism
warfarin
