论华法林相关基因突变检测技术  

The overview of warfarin related gene mutation detection technologies

作　　者：孙雪[1,2] 况赟 阳喜定[1,2] 郭成贤[2] 阳国平[2] 

机构地区：[1]中南大学药学院,湖南长沙410013 [2]中南大学湘雅三医院临床药理中心,湖南长沙410013

出　　处：《分子诊断与治疗杂志》2015年第3期199-204,共6页Journal of Molecular Diagnostics and Therapy

基　　金：科技部国际科技合作与交流专项(2014DFA30900);国家自然科学基金(81373476)

摘　　要：华法林为一种常用的口服抗凝药,主要用于治疗血栓栓塞性疾病。但其治疗窗窄、个体差异大,容易引起血栓或出血的风险。代谢酶CYP2C9和作用靶点VKORC1基因多态性对华法林个体剂量差异有显著影响。因此CYP2C9和VKORC1基因突变的检测对于华法林的个体化治疗具有重要的参考价值。目前用于CYP2C9和VKORC1突变检测的方法有PCR-RFLP、TaqMan、pyrosequencing、HRM、POCT、熔解曲线分析技术、MS、DHPLC等。本文将对这些检测方法的特点进行比较分析,以发现适合临床应用推广的技术检测方法。Warfarin is a kind of commonly prescribed oral anticoagulant for preventing thromboem- bolic disease. However, it is prone to cause thromboembolism or bleeding due to its narrow therapeutic window. The predominant polymorphisms in CYP＇2C9 and VKORC1 genes, encoding for metabolizing enzyme cy- tochrome P450 2C9（CYP2C9） and target enzyme vitamin K epoxide reductase complex subunit ]（VKORC1）, have significant impact on individual differences in dose requirement. So the detection of CYP2C9 and VKO- RC1 mutation has important reference value to individualized therapy. At present, the usually detection methods of CYP2C9 and VKORC1 include PCR-RFLP, TaqMan, pyrosequencing, HRM, POCT, melting curve analysis, MS, DHPLC,and so on. The characteristics of these detection methods will be compared in this article to find out the most suitable technical detection methods for clinical application and promotion.

关 键 词：华法林 CYP2C9 VKORC1 基因突变检测 

分 类 号：R440[医药卫生—诊断学]