【摘要】 目的:探索高分辨率熔解曲线(high resolution melting,HRM)分析技术在检测肺癌组织表皮生长因子受体(epidermal grouthfactor receptor,EGFR)基因突变中的应用。方法:利用HRM技术,进行人肺癌组织EGFR基因外显子19和21突变筛查,并做测序验证。结果:外显子19的HRM分型结果显示,52例样品中有3种类型熔解曲线,45例样品为A型,5例为B型,2例为C型。外显子21的分析结果显示有2种熔解曲线,49例样品为N型,3例样品为M型。测序结果显示,外显子19 A型熔解曲线代表外显子19的野生型,B型熔解曲线代表杂合性缺失delE746-A750(c.2235-2249del),C型熔解曲线代表杂合性缺失delL747-S752(c.2240-2257del)。外显子21 N型熔解曲线代表野生型,M型熔解曲线代表杂合性L858R(c.2573T-G),HRM分析结果与测序结果完全一致。结论:本研究表明HRM分析技术能准确检测EGFR基因突变,是一种适合肺癌组织中EGFR基因突变筛查的方法。更多还原

【Abstract】 OBJECTIVE: To evaluate the feasibility and sensitivity of detecting the epidermal growth factor receptor(EGFR) mutation in non-small cell lung carcinoma(NSCLC) patients using high resolution melting(HRM) curve analysis.METHODS: HRM was applied to detect the mutations of EGFR exon 19 and 21 in NSCLC patients,the results were then confirmed by direct sequencing.RESULTS: Three melting curves were obtained by HRM anlysis for EGFR exon 19 and two melting curves for exon 21.Type A(45/52),B(5/52),C(2/52) melting curves represent wild type,heterozygous delE746-A750 and delL747-S752 of exon 19,respectively.Type N(49/52) and M(3/52) melting curves represent wild type and heterozygous L858R of exon 21.Results of HRM were consistent with those of direct sequenc.CONCLUSION: HRM is an accurate technique to detect EGFR mutations.It is also a low-cost test which is suitable for screening.更多还原