期刊论文

Association of EGFR gene G719S and T790M mutations with cervical cancer

Xiang, Huahua

中文

中华医学遗传学杂志

1003-9406

2019

36

4

376-379

10.3760/cma.j.issn.1003-9406.2019.04.021

湖南省卫计委科研计划课题(C2016083) 湖南省自然科学基金(2018JJ2350).

本校为第一且通讯机构

目的 探讨高保真聚合酶介导的分子开关突变检测技术对于筛查宫颈癌患者表皮生长因子受体(epidermal growth factor receptor,EGFR)基因G719S、T790M突变的价值,并分析上述突变与宫颈癌的相关性,以指导小分子酪氨酸激酶抑制剂类药物(tyrosine kinase inhibitor,TKI)的合理使用.方法 设计两个位点的野生型与突变型序列的特异性引物,并硫化修饰引物的3'末端.以实验室构建的重组质粒为对照模板,进行高保真酶介导的PCR反应.将上述方法应用于临床样本的突变检测,并辅以测序验证.结果 在80例宫颈癌组织以及31例癌旁组织的DNA样本中均未检测出EGFR基因的G719S、T790M突变,与DNA测序的结果一致.病例组的基...

Objective: To establish a rapid and accurate "on/off" switch technique consisted of 3' phosphorothioate-modified allele-specific primers and exo+ polymerase to screen the G719S and T790M mutations of epidermal growth factor receptor (.EGFR) gene. The switch was used to identify cervical cancer patients who are sensitive to tyrosine kinase inhibitor (TKI). Methods: Allele-specific primers targeting recombinant wild-type and mutation-type templates were designed with 3 terminal phosphorothioate modification. Two-directional primer extension was c...