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[目的]研究食管鳞状细胞癌线粒体DNA微卫星不稳定性特征,探讨线粒体DNA微卫星不稳定性与食管鳞状细胞癌的关系。[方法]用长片段PCR扩增46例食管鳞状细胞癌组织及正常对照组织线粒体DNA,并以此为模板,PCR扩增其控制区D-loop区微卫星位点(C)n序列和(CA)n序列,运用PCR-SSCP方法检测PCR产物微卫星不稳定情况,分析线粒体微卫星不稳定与食管鳞状细胞癌的相互关系。[结果]46例食管鳞状细胞癌中,mtMSI检出率为32.6%(15/46),其中13例于D-loop区(C)n序列检出MSI,5例于D-loop区(CA)n序列检出MSI,于(C)n和(CA)n序列同时检出者3例,正常组织中未检出mtMSI,mtMSI与临床病理参数无关。[结论]线粒体DNAD-loop区(C)n序列微卫星不稳定性在食管鳞癌中是存在的,可能是食管癌发生过程中的早期事件,并可能在食管鳞状细胞癌发生中起重要作用。
[Objective] To investigate the characteristics of mitochondrial DNA microsatellite instability in esophageal squamous cell carcinoma and to explore the relationship between mitochondrial DNA microsatellite instability and esophageal squamous cell carcinoma. [Method] The mitochondrial DNA of 46 esophageal squamous cell carcinoma tissues and normal control tissues was amplified by PCR using the long segment PCR. Using this as template, the microsatellite loci (C) n sequences in D-loop region of control region and (CA) n sequence. PCR-SSCP was used to detect the microsatellite instability of PCR products. The relationship between mitochondrial instability and esophageal squamous cell carcinoma was analyzed. [Results] The detection rates of mtMSI in 46 cases of esophageal squamous cell carcinoma were 32.6% (15/46), of which 13 cases were detected MSI in D-loop region (C) n sequence and 5 cases were detected in D-loop region CA) n sequences detected MSI, (C) n and (CA) n sequences were detected simultaneously in 3 cases, normal tissues were not detected mtMSI, mtMSI and clinicopathological parameters. [Conclusion] Microsatellite instability of mitochondrial DNA D-loop region (C) n sequence exists in esophageal squamous cell carcinoma and may be an early event in the development of esophageal carcinoma and may play an important role in the carcinogenesis of esophageal squamous cell carcinoma effect.