中国云南汉族群体VKORC1基因多态性研究（英文）

Genetic Polymorphisms of VKORC1 in Han Population of Yunnan China

目的:探讨云南汉族人群维生素K环氧化物还原酶亚单位1(VKORC1)基因多态性,并与国内外群体进行比较。方法:采集280云南汉族心瓣膜置换术病人外周血,获得基因组DNA,用PCR-RFLP方法分析VKORC1-1639G/A,1173C/T,3730A/G的基因多态性。结果:对于VKORC1-1639G/A,共检出222(79.3%)名AA纯合子,8(2.8%)名GG纯合子,50(17.9%)名AG杂合子;对于VKORC1 1173C/T,检出224(80.0%)名纯合子TT,56(20.0%)名杂合子CT,未检出CC基因型;对于VKORC1 3730 A/G,共检出30(10.7%)名AA基因型,205(73.2%)名GG基因型,45(16.1%)名AG基因型。与不同群体相比,各位点差别不一。结论:与其他群体相比,云南汉族人群VKORC1-1639G/A,1173C/T,3730A/G基因位点具有自己的遗传多态性,其基因多态性在临床药物应用(如华法林)治疗中具有非常重要的意义。

Objective： To investigate the polymorphisms of VKORC1 in Han population of Yunnan China and compare it with that of other populations home and abroad. Methods： Blood samples were collected from 280 Chinese Yunnan Han patients with cardiac valves replacement. VKORC1-1639G/A, 1173C/T, 3730A/G polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）. Results： For VKORC1-1639G/A, 222 subjects（79.3%） were homozygous of AA, 8（2.8%）were GG, and 50（17.9%） were heterozygous of AG. Two hundred and twenty-four subjects（80.0%） were carriers of TT, while 56（20.0%） were CT, CC genotype was not found in VKORC1 1173C/T. VKORC1 3730 A/G showed that 45（16.1%） were heterozygote of AG, 30（10.7%） and 205（73.2%） were homozygote of AA and GG. Both similarities and differences in VKORC1 polymorphisms were found between Yunnan Han and other populations. Conclusions： This study increased the evidence of intrapopulation genotypic variability and highlighted the significant genotypic heterogeneity when different populations are considered, it would be useful to understand clinical pharmacokinetics and drug dosage recommendations for Yunnan Han population.