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维吾尔族肺腺癌患者的EGFR基因突变分析
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维吾尔族肺腺癌患者的EGFR基因突变分析
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维吾尔族肺腺癌患者的EGFR基因突变分析
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Journal Article
维吾尔族肺腺癌患者的EGFR基因突变分析
2013
Overview
背景与目的表皮生长因子受体（epidermal growth factor receptor,EGFR）是一种跨细胞膜糖蛋白,属于受体型酪氨酸激酶家族。以吉非替尼为代表的EGFR酪氨酸激酶抑制剂对于EGFR突变的肺癌患者显示出良好的治疗效果,然而EGFR的突变率在不同民族和不同种族的人群中表现出较大差异。本研究旨在分析维吾尔族中肺腺癌患者肿瘤组织的EGFR基因突变情况,同时比较维吾尔族与汉族肺腺癌患者肿瘤组织EGFR基因突变率的差异性。方法收集临床肺腺癌患者石蜡包埋组织标本138例,包括68例维吾尔族和70例汉族肺腺癌的样本,采用ARMS（amplification refractory mutation system,ARMS）PCR扩增方法检测EGFR基因外显子18、19、20及21的突变,χ2分析对比维吾尔族和汉族肺腺癌EGFR基因突变差异。结果 138例肺腺癌患者中有43例EGFR基因突变,总突变率为31.2%,其中维吾尔族突变11例,突变率为16.2%,汉族突变32例,突变率为45.7%,维吾尔族肺腺癌EGFR突变率与汉族肺腺癌EGFR突变率比较有明显差异（P〈0.001）,突变以外显子19-del和L858R为主要突变点。结论维吾尔族中肺腺癌EGFR基因突变率为16.2%,汉族中EGFR基因突变率为45.7%,维吾尔族肺腺癌EGFR突变率明显低于我国汉族EGFR基因突变。
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