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目的了解肺癌患者口腔黏膜mtDNA获得性突变情况,探讨肺癌外细胞的线粒体基因突变与肺癌的关系和作为对肺癌预测的生物学指标的可能性。方法利用时相温度梯度凝胶电泳法对12例肺癌患者(吸烟者10例,非吸烟者2例)口腔黏膜细胞及匹配的血液细胞线粒体DNA进行突变筛选,然后进行测序分析。结果在大部分吸烟患者中(8/9),发现口腔黏膜具有两个以上的获得性突变,而在两个非吸烟的患者仅发现1个突变。在11例(11/12,92%)患者中共发现有26个获得性突变,15个突变发生在高变的D环区(58%),11个在mRNA区(42%)。除303～309位点具有长度不稳定外,未见其他微卫星不稳定和5kb的大范围缺失突变。结论吸烟的肺癌患者口腔黏膜细胞线粒体DNA具有高发生频率的获得性突变。
Objective To investigate the acquired mutations of mtDNA in oral mucosa of patients with lung cancer and to explore the relationship between mitochondrial DNA mutations in lung cancer cells and lung cancer and the possibility of predicting lung cancer. Methods The mitochondrial DNA of 12 patients with lung cancer (10 smokers and 2 non-smokers) oral mucosa cells and matched blood cells were screened by temperature gradient gel electrophoresis and sequenced. Results In most smokers (8/9), oral mucosa was found to have more than two acquired mutations, whereas only one was found in two nonsmoking patients. Twenty-six acquired mutations were found in 11 (11/12, 92%) patients. Fifteen mutations occurred in the hypervariable D-loop region (58%) and 11 in the mRNA region (42%). In addition to the length of 303 ~ 309 sites with instability, no other microsatellite instability and 5kb large-scale deletion mutation. Conclusion Mitochondrial DNA in oral mucosal cells of smokers with lung cancer has acquired high frequency of mutation.