广东人群CYP2C9等位基因及基因型分布频率

目的了解广东人群CYP2C9等位基因及基因型分布频率。方法应用聚合酶链反应一限制性片段长度多态性（PCR—RFLP）技术，对100例健康广东人个体进行CYP2C9基因分型。结果CYP2C9＊1及CYP2C9＊3等位基因频率分别为0．965及0．035，未检测到CYP2C9＊2等位基因；基因型CYP2C9＊1／CYP2C9＊1和CYP2C9＊1／CYP2C9＊3的频率分别为0．930、0．070，符合Hardy—Weinberg平衡分布。结论广东人群CYP2C9＊3等位基因频率与国内其他人群及亚洲其他各国人群相比，差异无显著性，而与欧美高加索人群显著不同。广东人群使用CYP2C9底物药时，应进行相应的CYP2C9基因型检测，以指导临床合理用药和个体化医疗。

Allele and genotype frequencies of CYP2C9 in Guangdong population

Objective To investigate the frequencies of the alleles and the genotypes of CYP2C9 in Guangdong population. Methods 100 healthy Guangdong volunteers were studied. The PCR-based amplification-created restriction site was performed and the PCR products were genotyped by restriction fragment length polymorphism assay. Results The allele frequencies were 0.965 for CYP2C9*1 and 0.035 for CYP2C9*3 respectively.CYP2C9*2 allele was not detected. The frequencies of CYP2C9*1/CYP2C9*1 and CYP2C9*1/CYP2C9*3 genotypes were 0.930 and 0.070 respectively,which met Hardy-Weinberg equilibrium. Conclusion No significant difference was observed in the frequencies of the CYP2C9*3 allele among Guangdong population and other populations in China and other Asian countries.CYP2C9*3 frequency in Chinese population was significantly different from those of European and American Caucasians. Genotyping of CYP2C9 will be helpful in guiding rational and individualized medication for individuals from Guangdong population which use drugs metabolized by CYP2C9.