STX4基因多态性对华法林应用剂量的影响

【作者】 梁欣； 张亚同； 胡欣；

【机构】 卫生部北京医院药学部； 北京通州潞河医院药剂科；

【摘要】 目的:本研究以中国北京地区使用华法林进行长期抗凝治疗的汉族人群作为研究对象,结合非遗传因素的影响,明确STX4基因位点的多态性与华法林用药剂量个体间差异的相关性。方法:本研究运用聚合酶链式反应(polymerase chain reaction,PCR)扩增-连接酶检测反应(ligase detection reaction,LDR)方法,对STX4单核苷酸多态性(single nucleotide polymorphism,SNP)位点进行基因分型检测。研究用INR作为临床治疗监测指标,最后运用SPSS17.0软件对数据进行分析。结果:207例样品中,STX4基因突变率为99.03%,其中杂合子分型为10.14%,且达到遗传平衡。不同基因分型组间的华法林剂量有显著差异,所对应的INR值无显著差异。结论:STX4基因多态性对华法林稳定剂量有显著影响,测定基因位点可以为个体化治疗提供指导。更多还原

【Abstract】 OBJECTIVE:The study of Han people in Beijing, China, a long-term usage of warfarin as anticoagulant therapy, in order to clear STX4 gene polymorphism. They affect warfarin dose between individuals. Combination of non-genetic factors, to guide individualized treatment. METHOD:Use PCR amplification-ligase detection reaction(LDR) method to conduct the single nucleotide polymorphism(SNP) loci genotyping of STX4 and INR as the clinical research monitoring indicators. At the last, use SPSS 17.0 software to analyze data based on clinical data and related genotyping results. RESULT:In 207 patients samples, STX4 gene mutation rate was 99.03%, in which heterozygous type was 10.14%, and accorded to Hardy-Weinberg equilibrium principle. Different genotype groups of warfarin doses were significantly different, corresponding to no significant difference between INR values. CONCLUSION:There is a significant effect of STX4 polymorphism to stable doses of warfrain, determination of gene locus can provide guidance for the individual treatment.更多还原