广东地区人群CYP2C9基因启动子区-1189C/T位点的多态性

Polymorphism of-1189C/T in the Promoter Region of CYP2C9 Gene in Chinese Guangdong Population

目的:检测中国广东地区人群CYP2C9基因启动子区-1189C/T位点的多态性并调查其等位基因及基因型频率。方法:提取152例广东药学院新生外周血基因组DNA,PCR扩增含CYP2C9基因-1189C/T位点的DNA片段,用MboⅡ酶切PCR产物,通过聚丙烯酰胺凝胶电泳-银染判断基因型。结果:在检测的152例样本中,CYP2C9基因-1189C/T位点基因型:C/C 21例、C/T 82例、T/T 49例,其相应的频率分别为0.14、0.54、0.32,符合Hardy-Weinberg平衡;等位基因-1189C和-1189T的频率分别为0.41和0.59,与日本人群和西班牙人群相比,差异没有统计学意义。结论:本研究建立了一种基于PCR-RFLP的简单、快速、灵敏的检测CYP2C9基因-1189C/T位点多态性的方法;CYP2C9基因-1189C/T位点多态性在中国广东地区人群中极为常见,是一个较好的遗传标志。

Objective： To detect the polymorphism of -1189C/T in the promoter region of CYP2C9 gene and investigate the frequencies of alleles and genotypes at this locus in Chinese Guangdong population . Methods： Genomic DNAs were isolated from the peripheral blood cells of 152 freshmen in Guangdong College of Pharmacy. The DNA fragment spanning-1189C/T locus of CYP2C9 was amplified by polymerase chain reaction. The PCR product was subjected to Mbo Ⅱ digestion,then the genotypes were determined by polyacrylamide gel electrophoresis （PAGE） and silver-staining. Results： In 152 individuals studied, the genotypes C/C, C/T and T/T of CYP2C9 -1189C/T locus were detected in 21, 82 and 49 cases, the corresponding frequencies were 0.14,0.54 and 0.32, respectively, which met Hardy-Weinberg equilibrium; The allele frequencies were 0.41 for CYP2C9 -1189C, 0. 59 for CYP2C9-1189T respectively, with no significant difference between allele frequencies of Chinese population and those of Japanese and Spanish population at this locus. Conclusion： PCR-RFLP is a simple, rapid and efficient method to identify the - 1189C/T polymorphism in the promoter region of CYP2C9 gene. -1189C/T polymorphism of CYP2C9 gene is common in the Chinese population, and it can work as a good genetic marker.