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基于连接酶反应快速检测华法林相关基因VKORC1、CYP2C9多态性
引用本文:张亚同,梁欣,胡欣,李可欣,杨莉萍. 基于连接酶反应快速检测华法林相关基因VKORC1、CYP2C9多态性[J]. 中国临床药理学与治疗学, 2010, 15(12): 1395-1401
作者姓名:张亚同  梁欣  胡欣  李可欣  杨莉萍
作者单位:[1]卫生部北京医院药学部,北京100730 [2]北京市通州区潞河医院,北京100016
基金项目:国家科技部"十一五"重大新药创制,卫生行业科研专项基金,国家食品药品监督管理局药品评价中心国家科技支撑计划课题
摘    要:目的:建立基于连接酶反应检测华法林相关基因分型分布的新方法。方法:设计多重PCR体系,构建多重PCR/连接酶检测方法检测华法林相关基因(VKORC1、CYP2C9)多态性,并用本方法检测207份北方汉族人血样DNA。结果:本研究检测结果未发现rs1799853(CYP2C9*2)突变。CYP2C9*3,VKORC1:1173C〉T,VKORC1:3730G〉A,VKORC1:-1639G〉A等4个SNP位点的发生率分别为4.35%、5.80%、5.31%、6.76%。位于CYP2C9第三个内含子的rs4086116发生率为10.14%。结论:本方法可靠、迅速,自动化程度高,检测结果与既往报道相符。

关 键 词:华法林  连接酶检测反应  VKORC1  CYP2C9  基因多态性

Ligase-based method to detect the polymorphism of warfarin related genes: VKORC1,CYP2C9
ZHANG Ya-tong,LIANG Xin,HU Xin,LI Ke-xin,YANG Li-ping. Ligase-based method to detect the polymorphism of warfarin related genes: VKORC1,CYP2C9[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2010, 15(12): 1395-1401
Authors:ZHANG Ya-tong  LIANG Xin  HU Xin  LI Ke-xin  YANG Li-ping
Affiliation:1Department of Pharmacy Beijing Hospital,Ministry of Health,Beijjing 100730,China;2Beijing Luhe Hospital,Tongzhou,Beijing 101149,China
Abstract:AIM:To establish one ligase-based method to detect the polymorphism of warfarin related genes. METHODS: The multiplex PCR/ ligase detection reaction(LDR) was established to detect warfarin related genes(VKORC1,CYP2C9) polymorphisms and 207 Han Chinese was detected using this method.RESULTS:No CYP2C9*2(rs1799853)was detected and the frequency of CYP2C9*3,VKORC1:1173CT,VKORC1:3730GA,VKORC1:-1639GA were 4.35%,5.8%,5.31%,6.76%,respectively.The mutation frequency of rs4086116 which located in the 3rd intron of CYP2C9 was 10.14%.CONCLUSION: This method is accurate,time-saving and labor-saving.And the detection results of the blood sample consistent with previous results.
Keywords:Warfarin  Ligase detection reaction  VKORC1  CYP2C9  Genetic polymorphism
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