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目的:检测口腔鳞状细胞癌患者线粒体DNA复制控制区(mtDNA D-loop)高变Ⅲ区(hypervariable regionⅢ,HVRⅢ)的突变情况,并探讨其意义。方法:以口腔鳞状细胞癌患者癌旁组织及正常组织作为对照,对7例口腔鳞状细胞癌组织样本的mtDNA D-loop HVRⅢ区进行PCR扩增和测序分析。结果:在7例患者的癌组织、癌旁组织、正常组织样本中共发现72个(56种)核苷酸改变,其中51个(26种)为核苷酸多态性改变;3个肿瘤组织样本中共发现21个突变,其中16个位于HVRⅢ区范围内;癌旁组织及正常组织未发现突变;口腔鳞状细胞癌的mtDNA D-loop HVRⅢ区突变率为42.9%(3/7)。结论:mtDNA D-loop HVRⅢ区的变异可能与口腔鳞状细胞癌的易感性有一定的联系;本研究为寻找新的肿瘤基因诊断和肿瘤遗传易感性的标志物提供了依据。
Objective: To detect the mutation of mitochondrial DNA replication-controlling region (mtDNA D-loop) hypervariable region Ⅲ (HVR Ⅲ) in oral squamous cell carcinoma and to explore its significance. Methods: The mtDNA D-loop HVRⅢ region of 7 cases of oral squamous cell carcinoma tissues was amplified by PCR and sequenced from the adjacent tissues and normal tissues of oral squamous cell carcinoma patients. RESULTS: A total of 72 (56) nucleotide changes were found in 7 cases of cancer tissue, paracancer tissue and normal tissue samples, of which 51 (26) were nucleotide polymorphisms. Three tumor tissues Twenty-one mutations were found in the sample, of which 16 were located in the HVRⅢ region. No mutation was found in adjacent tissues and normal tissues. The mutation rate of mtDNA D-loop HVRⅢ in oral squamous cell carcinoma was 42.9% (3/7). CONCLUSION: The variation of mtDNA D-loop HVRⅢ region may be related to the susceptibility of oral squamous cell carcinoma. This study provides a basis for finding novel markers for tumor gene diagnosis and tumor genetic susceptibility.