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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 polymorphism of vitamin K epoxide reductase subunit 1 (VKORC1) gene in Yunnan Han population and to compare with other groups at home and abroad. Methods: Peripheral blood samples from patients undergoing heart valve replacement in Yunnan Han ethnicity were collected and genomic DNA was obtained. The polymorphisms of VKORC1-1639G / A, 1173C / T and 3730A / G were analyzed by PCR-RFLP. Results: 222 (79.3%) AA homozygotes, 8 (2.8%) GG homozygotes and 50 (17.9%) AG heterozygotes were detected for VKORC1-1639G / A. For VKORC1 1173C / T, There were 30 (10.7%) AA genotypes detected in 224 (80.0%) homozygous TT and 56 (20.0%) heterozygous CT genotypes and no CC genotype detected in 205K (73.2 %) Of the GG genotypes and 45 (16.1%) of the AG genotypes. Compared with different groups, different sites vary. Conclusion: Compared with other populations, VKORC1-1639G / A, 1173C / T and 3730A / G loci in Yunnan Han population have their own genetic polymorphisms. The genetic polymorphisms in VKORC1-1639G / A, Treatment is of great importance.