特异荧光PCR对人ALDH2基因型的研究  

Research on ALDH2 genotypes by allele specific fluorescent polymerase chain reaction

作　　者：徐娟[1] 郑绯[2] 姜楠[1] 邸晓辉[1] 张梅[1] 

机构地区：[1]北京军区总医院药理科,北京100700 [2]中国人民解放军第302医院药学部,北京100024

出　　处：《中国卫生检验杂志》2014年第16期2391-2392,2395,共3页Chinese Journal of Health Laboratory Technology

摘　　要：目的评价人ALDH2基因多态性检测试剂盒(荧光PCR法)用于人ALDH2基因c.1510位点(G/A)核苷酸多态性检测的准确性和有效性。方法将入选人基因组DNA标本371例采用金标准和临床待考评试剂盒进行同步盲法检测,试验结束后揭盲,将试验试剂检测结果与金标准检测结果进行统计比较分析。结果人ALDH2基因多态性检测试剂盒(荧光PCR法)与DNA直接测序法(Sanger测序法)金标准检测结果相比,两者基因型总符合率为99.19%,临床诊断评价总符合率99.46%,有较高的一致性。结论人ALDH2基因多态性检测试剂盒(荧光PCR法),无放射性危害,具有高灵敏性、高特异性、试剂周期长等特点,可以在临床检验中推广使用。Objective To evaluate the accuracy and validity of allele specific fluorescent polymerase chain reaction （PCR） in ALDH2 genotyping. Methods Peripheral blood specimens were collected from 371 donors to detect ALDH2 genotypes by allele specific fluorescent PCR and gold standard DNA direct sequencing based on blind synchronization, then the detection results were compared for statistical analysis. Results The coincidence rate of genotyping results was 99.19% by the two methods. The coincidence rate of the two methods was 99.46% by clinical diagnosis evaluation, exhibiting high consistency. Conclu- sion ALDH2 genotype testing based on allele specific fluorescent PCR has the advantages of radiation free, high sensitivity, high sensitivity, high specificity and long validity, worthy of popularization in clinical examination.

关 键 词：线粒体乙醛脱氢酶2 基因型 等位基因特异荧光PCR DNA直接测序 

分 类 号：Q754[生物学—分子生物学]