EGFR基因突变直接测序检测方法的建立  

Establishment of a sequencing method for direct detecting EGFR gene mutations

作　　者：容毓[1] 周明[1] 

机构地区：[1]广州医科大学附属肿瘤医院广州医科大学肿瘤研究所,510095

出　　处：《国际医药卫生导报》2014年第13期1844-1847,共4页International Medicine and Health Guidance News

基　　金：吴阶平基金立项（320.6750.12616）

摘　　要：目的 建立一种适用于临床表皮生长因子受体（EGFR）基因直接测序突变检测方法.方法 以EGFR基因突变热点19、21外显子为突变检测靶位点设计特异性扩增、测序引物,以已知19、21外显子野生型、突变型样品分别做为阴、阳性对照品,建立EGFR基因突变直接测序检测方法,进行方法学评估.结果 成功建立了EGFR基因突变直接测序检测方法,该方法检测灵敏度为4.7 ng/μl,重复性良好.检测30例结非小细胞肺癌样品,突变率为26.7％.结论 本研究建立了可用于临床样品检测的EGFR基因突变直接测序检测方法.Objective To establish a sequencing method for detecting epidermal growth factor receptor （EGFR） gene mutations.Methods A sequencing method for EGFR gene mutations detection was established with specific primers targeting the hotspot mutation region （exon19 and exon21） and the Wild-type and mutation samples were selected as negative samples and positive samples respectively.Then the performance of this method was assessed.Results This sequencing method of EGFR gene mutations detection was established successfully it has high sensitivity （4.7 ng/μl）and good repeatability.The mutation rate was 26.7％ in 30 non-small cell lung cancer samples.Conclusion This study has established a sequencing method used in clinical samples to detect EGFR gene mutations.

关 键 词：EGFR 基因测序 非小细胞肺癌 

分 类 号：R730.4[医药卫生—肿瘤]