变性高效液相色谱技术检测非小细胞肺癌患者表皮生长因子受体基因突变的研究  

Detection of EGFR gene mutations in patients with non-small cell lung cancer by denaturing high performance liquid chromatography technology

作　　者：蔡丹[1] 叶韵斌[2] 陈强[3] 郑雄伟[4] 苏颖[5] 柳硕岩[6] 贾静[5] 力超[4] 何小玲[7] 钟玲[7] 

机构地区：[1]福建医科大学教学医院福建省肿瘤医院心肺功能室,福州340014 [2]福建医科大学教学医院福建省肿瘤医院内科研究室,福州340014 [3]福建医科大学教学医院福建省肿瘤医院内科,福州340014 [4]福建医科大学教学医院福建省肿瘤医院病理科,福州340014 [5]福建医科大学教学医院福建省肿瘤医院放射治疗研究室,福州340014 [6]福建医科大学教学医院福建省肿瘤医院胸外科,福州340014 [7]福建医科大学教学医院福建省肿瘤医院手术室,福州340014

出　　处：《肿瘤研究与临床》2010年第9期595-597,600,共4页Cancer Research and Clinic

基　　金：基金项目：福建省自然科学基金（X0750024）

摘　　要：目的探讨采用变性高效液相色谱（DHPLC）技术检测表皮生长因子受体（EGFR）基因突变的优势。方法应用DHPLC技术检测49例非小细胞肺癌（NSCLC）患者EGFR基因第19与21外显子突变情况，并应用DNA直接测序法验证DHPLC检测基因突变的准确性。结果49例NSCLC患者中，应用DHPLC检测出13例EGFR基因突变；其中第19外显子缺失突变10例（76．92％）；第21外显子替代突变3例（23．08％）。DNA直接测序法突变检测结果与DHPLC一致，DHPLC检测EGFR基因突变灵敏度为100％。结论DHPLC技术可以快速、准确、大规模筛选EGFR基因突变。Objective To investigate the advantages of detection for EGFR gene mutations by denaturing high performance liquid chromatography （DHPLC） technology. Methods DHPLC was used to detect EGFR gene mutations at exon 19 and 21 in 49 cases of non-small cell lung cancer （NSCLC） patients, and the direct DNA sequencing was used to verify the accuracy of DHPLC detection. Results EGFR gene mutation was identified from 13 of 49 cases by DHPLC,including deletion mutation at exon 19 in 10 cases （76.92 %） and alternative mutations at exon 21 in 3 cases （23.08 %）. Mutation results of DHPLC was consistent with DNA direct sequencing. The results of the direct DNA sequencing were the same as those of DHPLC. The sensitivity of mutation test by DHPLC was 100 %. Conclusion DHPLC technology can be used for large scale screening of EGFR gene mutation with rapid and accuracy.

关 键 词：癌 非小细胞肺 基因erbB-1 突变 色谱法 液相 

分 类 号：R734.2[医药卫生—肿瘤]