江苏地区汉族人群中维生素K环氧化物还原酶亚单位1、细胞色素P4502C9的基因多态性

目的了解江苏地区汉族人群中维生素K环氧化物还原酶亚单位1（VKORC1）、细胞色素P4502C9（CYP2C9）基因多态性分布、特点及与国外其他不同民族之间的差异。方法利用聚合酶链反应（PCR）和限制性内切酶片段长度多态性（RFLP）技术对206例江苏地区汉族人群中CYP2C9及VKORC1基因多态性进行检测,计算其基因型及等位基因频率,并与国外多个民族VKORC1、CYP2C9基因多态性分布进行比较。结果检测到VKORC1有A和G两种等位基因,A和G等位基因频率分别为0.91和0.09。VKORC1-1639G〉A基因型检测有169人为突变纯合子AA型,基因型频率为0.82,35人为杂合子GA型,基因型频率为0.17,2人为纯合子GG型,基因型频率为0.01。共检测到CYP2C9＊1及CYP2C9＊3两种等位基因,未检测到CYP2C9＊2,CYP2C9＊1及CYP2C9＊3等位基因频率分别为0.95和0.05。CYP2C9基因型检测有186人为＊1/＊1型,基因型频率为0.90,20人为杂合子＊1/＊3型,基因型频率为0.1。结论江苏地区汉族人群中VKORC1、CYP2C9基因多态性分布有自己的特点,可为研究VKORC1、CYP2C9基因在中国汉族人群中华法林个体化用药提供理论依据。

Genetic Polymorphism of VKORC1 and CYP2C9 in People of Han in Jiangsu

Objective To investigate the distribution and characteristics of genetic polymorphism of VKORC1 and CYP2C9 in People of Han in Jiangsu as well as the difference in the distribution, and characteristics of genetic polymorphism between Han poputation and other poputations. Methods The polymorphism of VKORC 1 AND CYP2C9 in 206 people of Han in Jiangsu was detected by using PCRRELP method.The genotype and allelic frequencies were calculated and compared with those in other populations. Results VKRCl-1639A allele and VKORCl-1639G were detected in people of han,the frequency of A allele and G allele in Han population in Jiangsu was 0.91 and 0.09 separately. Three genotypes have been detected.AA was the most common genotype in Han population,with the frequency of 0.82,the frequency of AG was 0.17,the frequency of GG was 0.01. CYP2C9＊1 allele and CYP2C9＊3 were detected in 206 people of han,CYP2C9＊2 allele was not detected, the frequency of ＊1 allele and＊3 allele in Han population in Jiangsu was 0.95 and 0.05 separately. Two genotypes have been de- tected .CYP2C9＊I/＊I was the most common genotype in Han population-with the frequency of 0.90,the frenquency of CYP2C9 was 0.10. Conclusion VKORC1 and CYP2C9 genes distribution in Hans of the Jiangsu are different from those in other races. It gives some suggestions for the individualization use of warfarin in the Hans of Chinese.