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目的 分析mtDNAtRNAThr、tRNAPRO基因及非编码HVRⅠ区序列在肺癌患者及健康成人外周血中的突变情况并探讨其意义。方法 一步法制备外周血白细胞mtDNA ,结合PCR产物直接测序 ,对比分析mtDNAtRNAThr、tRNAPRO基因及非编码HVRⅠ区序列在 17例肺癌患者和 14例健康成人外周血白细胞中的突变情况。结果 肺癌组和健康成人组中 ,仅 1例健康成人mtDNA编码区tRNAThr基因中出现了 1个碱基变异 ,碱基平均变异率为 0 .0 2 37% ,而非编码HVRⅠ区共发现 136个变异 ,碱基平均变异率为 1.2 82 8%。肺癌组和健康成人组碱基平均变异率分别为 1.2 384 %和 1.336 7%。肺癌组中腺癌、鳞癌、小细胞癌的碱基平均变异率分别为 0 .994 2 %、1.2 0 2 1%和 1.75 4 4 %。结论 肺癌患者外周血白细胞mtDNA编码区序列趋于高度保守 ,主要碱基变异发生在非编码HVRⅠ区 ,与健康成人相应区域变异率总体上趋于一致 ,但肺癌组人均碱基变异随年龄增长有增高趋势 ,且小细胞肺癌外周血白细胞mtDNA非编码HVRⅠ区碱基平均变异率有增高趋势。
Objective To analyze the mutations of mtDNAtRNAThr, tRNAPRO gene and non-coding HVRⅠ region in peripheral blood of patients with lung cancer and healthy adults and to explore its significance. Methods The mtDNA of peripheral blood leukocytes was prepared by one - step method. The mutations of mtDNAtRNAThr, tRNAPRO and non - coding HVR Ⅰ regions in 17 cases of lung cancer and 14 cases of healthy adult peripheral white blood cells were analyzed. Results In lung cancer group and healthy adult group, only 1 case of mtDNA coding region of tRNAThr gene in healthy adults showed 1 base mutation, the average base mutation rate was 0.0273%, while 136 non-coding HVR Ⅰ region Variation, base average mutation rate of 1.2 82 8%. The average base mutation rates in lung cancer patients and healthy adults were 1.2 384% and 1.336 7%, respectively. In lung cancer group, the average base mutation rates of adenocarcinoma, squamous cell carcinoma and small cell carcinoma were 0.994 2%, 1.2 0 2 1% and 1.75 4 4% respectively. Conclusions The sequence of mtDNA coding region of peripheral leukocytes in lung cancer patients tends to be highly conserved. The major base variation occurs in the non-coding HVRⅠ region, which is consistent with that of healthy adults. However, the variation of per capita base mutation in lung cancer patients with age Increasing trend, and small cell lung cancer leukocytes mtDNA non-coding HVR Ⅰ area base mutation rate has increased.