摘要
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（如改良酚一氯仿法、QIAmpCirculatingNucleicAcidKit）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、突变一富集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。
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 false- negative 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 mutation- enriched PCR）. Now, this article reviews the status quo and future direction of detecting EGFR gene mutation with peripheral blood cell-free DNA.
出处
《国际呼吸杂志》
2014年第6期436-440,共5页
International Journal of Respiration
基金
安徽省卫生厅课题（13ZC001）
关键词
非小细胞肺癌
外周血游离DNA
表皮生长因子受体
蝎形探针扩增阻滞突变系统
Non-small cell lung eancer
Peripheral blood cell-free DNA
Epidermal growth factor receptor
Seorpion probe amplification refractory mutation system
