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通过检测抑癌基因PTEN在新疆哈族食管癌及正常食管粘膜组织中的突变频率,探讨PTEN基因突变与哈族食管癌的关系。运用聚合酶链反应-单链构象多态性分析(PCR-SSCP)方法以及DNA直接测序技术,扩增125例哈族食管癌石蜡包埋组织及70例新鲜哈族食管粘膜中PTEN基因的突变热点,即第5-8号外显子,根据构象改变检测其基因突变情况。125例哈族食管癌组织中PTEN基因第5及第8号外显子的突变率分别为0.8%(1/125),3.2%(4/125),6、7号外显子未发现突变(0/125)。70例新鲜哈族食管粘膜中均未检测到任何突变(0/70)。二者差异无统计学意义(P>0.05)。哈族食管癌中存在PTEN抑癌基因的突变,但突变率较低。PTEN基因突变在食管癌发生发展中的作用不大。
To investigate the relationship between PTEN gene mutation and Ha ethnic esophageal cancer by detecting the mutation frequency of tumor suppressor gene PTEN in Xinjiang esophageal cancer and normal esophageal mucosa. PCR-SSCP and DNA direct sequencing were used to amplify the mutations of PTEN gene in 125 cases of Ha ethnic esophageal paraffin-embedded tissues and 70 cases of fresh Ha ethnic esophageal mucosa The hot spot, exons 5-8, was examined for conformational changes based on conformational changes. The mutation rates of exon 5 and exon 8 of PTEN gene in 125 cases of Ha ethnic esophageal cancer were 0.8% (1/125) and 3.2% (4/125) respectively, and no mutation was found in exon 6,7 / 125). None of the 70 fresh Ha national esophageal mucosa detected any mutation (0/70). The difference was not statistically significant (P> 0.05). Ha ethnic esophageal cancer PTEN tumor suppressor gene mutations, but the mutation rate is low. PTEN gene mutation in the development of esophageal cancer has little effect.