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目的:探讨线粒体DNA体细胞性突变和种系性变异在食管癌的发生情况及其可能的作用. 方法:利用时相温度梯度电泳方法分析了食管癌的线粒体基因体细胞性突变.采用32对重叠引物扩增了来自20例食管癌患者的肿瘤组织和配对正常组织的线粒体全长基因,在肿瘤和正常组织中不同的电泳条带类型的DNA片段被测序以辩明其突变类型. 结果:在20例肿瘤中11例(55%)至少发现一个体细胞性突变,总共发现14个体细胞性突变,其中1个位于rRNA (7.1%),4个位于mRNA(28.5%),另外9个位于高变D环区(64.3%).4个新的体细胞性突变中2个为错义突变.在测序片段中共发现187个种系性变异,其中14个为新发现的变异,173个为已被报道并记录在线粒体基因数据库中. 结论:食管癌患者线粒体DNA存在高发生频率的体细胞性突变提示线粒体DNA的变异可能与食管癌的发生发展有关.
Objective: To investigate the occurrence and possible role of mitochondrial somatic mutation and germ-line mutation in esophageal cancer.Methods: The mitochondrial gene somatic mutation in esophageal cancer was analyzed by using phase-temperature gradient electrophoresis Overlapping primers amplified full-length mitochondrial DNA from tumor tissues and paired normal tissues of 20 patients with esophageal cancer, and sequenced DNA fragments of different electrophoresis band types in tumors and normal tissues to identify the types of mutations.Results: A total of 14 somatic mutations were found in 11 (55%) of the 20 tumors, of which 14 were found in rRNA (7.1%), 4 in mRNA (28.5%) and 9 in high D loop (64.3%). Two of the four novel somatic mutations were missense mutations. A total of 187 germline mutations were found in the sequencing fragments, of which 14 were newly discovered and 173 were positive Were reported and recorded in the mitochondrial DNA database.Conclusion: Somatic mutations in mitochondrial DNA of esophageal cancer patients suggest that the variation of mitochondrial DNA may be related to the occurrence and development of esophageal cancer.