[1]吴 薇,王丽岳,李 艳.DNA微阵列芯片法与直接测序法检测CYP2C19基因型的比较研究[J].现代检验医学杂志,2016,31(02):8-11.[doi:10.3969/j.issn.1671-7414.2016.02.003]
 WU Wei,WANG Li-yue,LI Yan.Comparison Analysis of CYP2C19 Polymorphisms Detection by DNA Microarray and DNA Microarray[J].Journal of Modern Laboratory Medicine,2016,31(02):8-11.[doi:10.3969/j.issn.1671-7414.2016.02.003]
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DNA微阵列芯片法与直接测序法检测CYP2C19基因型的比较研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第31卷
期数:
2016年02期
页码:
8-11
栏目:
论著
出版日期:
2016-06-01

文章信息/Info

Title:
Comparison Analysis of CYP2C19 Polymorphisms Detection by DNA Microarray and DNA Microarray
作者:
吴 薇1王丽岳2李 艳1
1.武汉大学人民医院检验科,武汉 430060; 2.武汉市普仁医院心血管内科,武汉 430081
Author(s):
WU Wei1WANG Li-yue2LI Yan1
1.Department of Clinical Laboratory,Renmin Hospital of Wuhan University,Wuhan 430060,China; 2.Department of Cardiovascular Medicine,Puren Hospital of Wuhan,Wuhan 430081,China
关键词:
氯吡格雷 CYP2C19 DNA微阵列芯片法
分类号:
Q503
DOI:
10.3969/j.issn.1671-7414.2016.02.003
文献标志码:
A
摘要:
目的 用DNA微阵列芯片法和直接测序法两种方法检测氯吡格雷相关基因CYP2C19的突变情况,并进行比较分析。同时将基因型检测结果与临床资料进行分析,初步探讨CYP2C19基因型检测在氯吡格雷用药治疗中的临床意义。方法收集180例诊断为急性冠脉综合症并首次接受经皮冠状动脉介入治疗术(PCI)的全血标本。其中90例患者术后服用氯吡格雷之前,采用DNA微阵列芯片法和DNA直接测序法检测CYP2C19突变位点,确定其基因型。另外90例对照组患者使用氯吡格雷药物但不检测CYP2C19基因型。分析两组患者随访过程中发生冠脉血栓事件的差异。结果 ①两种检测方法准确度比较:在试验组90例患者中,DNA微阵列芯片法和DNA测序法均检出4种基因型组合:*1/*1(636GG,681GG),*1/*2(636GG,681GA),*2/*2(636GG,681AA)和*1/*3(636GA,681GG),分布频率分别为44例(48.9%),36例(40%),5例(5.6%)和5例(5.6%),而*3/*3(636AA,681GG)和*2/*3(636GA,681GA)未检测到。两种方法的准确度完全一致。②将检测结果与临床资料进行相关性分析:经CYP2C19基因型指导氯吡格雷用药的患者发生支架冠脉血栓事件的比例(0%)明显低于对照组(3.33%,P<0.05)。结论①DNA微阵列芯片法灵敏度和准确度与DNA直接测序法(金标准方法)检测相符率为100%。②DNA微阵列芯片法是一种快速、准确发现CYP2C19突变位点,鉴别CYP2C19基因型的检测方法。③检测结果与临床相关性分析结果显示基因型指导氯吡格雷用药有助于患者用药剂量的调整,或选用其它抗凝血药物,从而可降低冠脉血栓事件的发生率。
Abstract:
Objective To compare and analyze the clinicalapplication value of detection of Cytochrome P450 2C19(CYP2C19)polymorphisms for clopidogrel application by DNA sequencing and DNA microarray.Methods 90 blood samples were randomly collected from patients,who werediagnosed as acute coronary syndrome and treated with percutaneous coronary intervention(PCI)for the first time.The genotyping of CYP2C19*2 and CYP2C19*3 alleles were performed in 90 samples through DNA sequencing and DNA microarray before using clopidogrel.The control group contains 90 patients with non-genotypeguided clopidogrel usage.The clinical significance of detection of these polymorphisms was evaluated by comparing the proportion of patients,who suffered with the stent thrombosis between control and genotype-guided groups using Chi square test.Results Both DNA sequencing and DNA microarrayresults showed that 4 kinds of gene type were detected:*1/*1(636GG,681GG),*1/*2(636GG,681GA),*2/*2(636GG,681AA)and *1/*3(636GA,681GG),respectively.Thedistribution of them were 48.9%,40%,5.6% and 5.6% respectively.However,*3/*3(636AA,681GG)and *2/*3(636GA,681GA)were not found.Besides,in the studied group,the rate of stent thrombosis(0.0%)was significantly lower than thatin the control group(3.3%).Conclusion ①As to the sensibility and accuracy of CYP2C19 polymorphism detection,DNA sequencing coincides with DNA microarray.②The detection of CYP2C19 polymorphism by DNA microarraywas validated to be rapid and reliable.③The genotyping of CYP2C19 with this method can effectively guide clopidogrel application,and thus reduce the occurrence of stent thrombosis.

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备注/Memo

备注/Memo:
基金项目:国家自然科学基金资助项目(81200389),教育部高等学校博士学科点专项科研基金(20120141120077),教育部中央高校基本科研业务专项基金(121069),湖北省自然基金资助项目(2010CDB8701)的资助。 作者简介:吴 薇(1980-),女,博士,副主任技师,主要研究方向:从事分子诊断与个体化医疗的研究,Tel:13659845142,E-mail:wuwei vivi2005@126.com。 通讯作者:李 艳,女,博士,主任技师,Tel:13886079252,E-m
更新日期/Last Update: 2016-02-20