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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。
Objective To investigate the distribution and characteristics of the polymorphisms of vitamin K epoxide reductase subunit 1 (VKORC1) and cytochrome P4502C9 (CYP2C9) in Jiangsu Han population and their differences with other ethnic groups in other countries. Methods The genotypes and alleles of CYP2C9 and VKORC1 were detected in 206 Han population of Jiangsu province by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) Frequency, and compared with the distribution of VKORC1 and CYP2C9 polymorphisms in several ethnic groups abroad. Results The two alleles A and G of VKORC1 were detected. The frequencies of A and G alleles were 0.91 and 0.09, respectively. In the VKORC1-1639G> A genotype, there were 169 human homozygous AA genotypes, genotype frequencies of 0.82 and 35 human heterozygous GA genotypes, genotype frequencies of 0.17 and 2 human homozygote GG genotypes with a genotype frequency of 0.01. A total of CYP2C9 * 1 and CYP2C9 * 3 alleles were detected. The CYP2C9 * 2, CYP2C9 * 1 and CYP2C9 * 3 alleles were undetected at 0.95 and 0.05, respectively. There were 186 human * 1 / * 1 genotypes for CYP2C9 genotype, 0.90 for genotype frequency, 1 heterozygote * 1 / * 3 genotype and 0.1 genotype frequency. Conclusions The distribution of VKORC1 and CYP2C9 polymorphisms in Han population of Jiangsu Province has its own characteristics, which may provide a theoretical basis for studying the individualized use of VKORC1 and CYP2C9 genes in warfarin in Chinese Han population.