摘要
目的探讨高分辨熔解曲线（HRM）法检测肺癌患者血浆循环DNA中表皮生长因子受体（EGFR）基因突变的可行性。方法采用HRM法对含不同比例EGFR基因突变型质粒的系列混合样本进行检测，以评价其灵敏度。应用HRM法检测2009年9月至2010年5月收治的96例肺癌患者血浆循环DNA中EGFR基因19、21外显子突变状况，并与基因测序法的结果比较分析。结果HRM法可检出系列混合样本中突变型质粒比例为5％的突变，其检测灵敏度达5％。经HRM法，在96例肺癌患者中检测出17例发生了EGFR突变，突变率为17．7％，其中外显子19和21突变分别占88．2％（15／17）和11．8％（2／17）；经基因测序法验证，结果完全一致。结论HRM法检测EGFR简单易行，快速，敏感性较高，可作为临床EGFR突变筛查的优选方法。
Objective To discuss the practicability of detecting epidermal growth factor receptor （EGFR） mutations in plasma circulating DNA of lung cancer patients by high-resolution melting （HRM）. Methods The sensitivity of HRM was analyzed by the detection of samples containing different proportions of EGFR-mutated plasmids. The mutations in exons 19 and 21 of EGFR were detected by HRM in 96 lung cancer patients from September 2009 to May 2010. And the results of HRM were compared with those of sequencing. Results The HRM detection could identify the EGFR mutations in a proportion of 5% of mutated plasmid DNA. And the EGFR mutations were detected in 17 （ 17. 7% , 17/96） cases. Among which, the number of exons 19 and 21 mutations was 15 （88.2%, 15/17） and 2 （11.8%, 2/17） respectively. The results of sequencing were consistent. Conclusion The HRM analysis may be an optimal method for clinical screening of EGFR mutation due to its simplicity and promptness with a high sensitivity.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2011年第10期674-678,共5页
National Medical Journal of China
基金
苏州市科技计划项目资助（510302）
关键词
肺肿瘤
受体
表皮生长因子
突变
循环DNA
高分辨率熔解曲线分析
Lung neoplasms
Receptor, epidermal growth factor
Mutations
Circulating DNA
High-resolution melting analysis
