CAJ | 학술논문

外周血游离DNA检测非小细胞肺癌人群表皮生长因子受体基因突变法因受到标本质量、采集运输分离条件、DNA提取方法、基因突变检测方法的多种限制,检测敏感性低,假阴性比例较高,但特异性较好.因此,外周血游离DNA的基因突变检测需针对特殊人群,优化采集运输分离步骤,并尝试使用较好的DNA提取(如改良酚-氯仿法、QIAmp Circulating Nucleic Acid Kit)及基因检测方法(如蝎形探针扩增阻滞突变系统、高效液相色谱法、高分辨溶解曲线分析技术、突变-富集PCR等).本文就外周血游离DNA表皮生长因子受体基因突变检测的现状及发展方向进行综述.
외주혈유리DNA검측비소세포폐암인군표피생장인자수체기인돌변법인수도표본질량、채집운수분리조건、DNA제취방법、기인돌변검측방법적다충한제,검측민감성저,가음성비례교고,단특이성교호.인차,외주혈유리DNA적기인돌변검측수침대특수인군,우화채집운수분리보취,병상시사용교호적DNA제취(여개량분-록방법、QIAmp Circulating Nucleic Acid Kit)급기인검측방법(여갈형탐침확증조체돌변계통、고효액상색보법、고분변용해곡선분석기술、돌변-부집PCR등).본문취외주혈유리DNA표피생장인자수체기인돌변검측적현상급발전방향진행종술.
It is limited by the quality of specimens,the condition of collecting,transporting and separating,the DNA extraction methods and the various gene mutation detection methods to use the peripheral blood cell-free DNA to detect epidermal growth factor receptor (EGFR) gene mutation from patients with non-small cell lung cancer.In total,the detection sensitivity is low,the proportion of falsenegative is higher,but the specificity is high.Therefore,the gene mutation is detected by peripheral blood cell-free DNA for special population,optimizing the process of collecting,transporting,and separating,trying to use the better DNA extraction methods (such as modified phenol-chloroform,QIAmp Circulating Nucleic Acid Kit) and genetic testing methods (such as scorpion probe amplification refractory mutation system,high performance liquid chromatography,high-resolution dissolution curve analysis and mutationenriched PCR).Now,this article reviews the status quo and future direction of detecting EGFR gene mutation with peripheral blood cell-free DNA.