摘要
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。
Aim To understand the mitochondrial DNA (mtDNA) mutation profiles in or al mucosa cells of smokers with lung cancer, so as to determine the association of these mutations with the development of lung cancer and assess the possibilit y of mtDNA mutations as the biological indicators for lung cancer prediction.Met hods The buccal mucosal cell and peripheral blood samples were obtained from 12 lung cancer patients including 10 smokers and 2 non-smokers for screening of ac quired mtDNA mutations by means of temporal temperature gradient gel electrophor esis (TTGE),followed by mtDNA sequence analysis. Results Altogether 26 somatic m utations were identified in 11 out of the 12 (92%) patients,and 15 (58%) of th ese mutations were located in the mtDNA D-loop hypervariable region and 11 (42. 31%) in the mitochondrial mRNA.Except for the length variation at the site of 3 03-309, no other microsatellite instability or common 5 kb deletion were detect ed in the samples examined.Conclusion There is a high incidence of mtDNA mutatio ns in oral mucosa cells in smokers with lung cancer.
出处
《中国临床康复》
CSCD
2003年第15期2129-2131,T001,共4页
Chinese Journal of Clinical Rehabilitation
