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基因芯片法检测CYP2C19基因多态性研究 被引量:7

Determination of CYP2C19 genotype with gene chip and its polymorphisms research
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摘要 目的:探讨基因芯片法检测CYP2C19基因型及其初步临床应用。方法:对96例经皮冠状动脉介入术后服用氯吡格雷的患者,通过CYP2C19基因芯片检测系统对CYP2C19﹡1、CYP2C19﹡2和CYP2C19﹡3突变位点进行检测,并根据CYP2C19基因型进行药物代谢分组,探讨其临床应用价值。结果:96例患者中,CYP2C19﹡1、CYP2C19﹡2和CYP2C19﹡3等位基因频率,分别为63.54%,30.73%和5.73%,其中弱代谢患者(基因型为CYP2C19﹡2/﹡2、CYP2C19﹡3/﹡3和CYP2C19﹡2/﹡3)的检出率为14.58%;随机24例样本抽样测序验证符合率为100%。结论:CYP2C19基因芯片检测系统具有快速、特异性强、准确率高等特点,适合于临床辅助诊断,是实现临床安全、合理用药的有效手段。 To investigate the usability and reliability of DNA microarray on CYP2CI9 genotype. METHODS96 percutaneous coronary intervention patients treated with clopidogrel were enrolled in this study. Their genomic DNA were extracted from peripheral blood, and detected with the CYP2CI9 gene chip which is able to perform mutation detection of CYP2C19~ 1, CYP2C19* 2 and CYP2C19* 3. The genotypes of CYP2CI9 were classified into the three groups, as rapid exten- sive metabolizer, intermediate metabolizer and poor metabolizer. RESULTS Of 96 percutaneous coronary intervention patients, the genotype frequencies of the CYP2CI9*, CYP2CI9* 2 and CYP2C19* 3 were 63.54% ,30. 73% and 5.73% respectively. The poor metabolize(genotype were CYP2CI9* 2 /* 2, CYP2C19* 3 /* 3 and CYP2C19* 2 /* 3 )rate in this cohort was 14. 58*. DNA sequence analysis showed 100% coincident with gene microarray results. CONCLUSION CYP2C19 microarray was proved to be have some advantages in clinical genetic diagnosis, such as rapid and high performance and accuracy, which makes it fitting to reasonable and safe medication.
出处 《中国医院药学杂志》 CAS CSCD 北大核心 2013年第20期1667-1670,共4页 Chinese Journal of Hospital Pharmacy
关键词 CYP2C19基因型 基因芯片 基因多态性 个体化用药 CYP2C19 genotype gene chip gene polymorphisms personalized medication
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