Li Lian, Xing Rui, Cui Jiantao, Li Wenmei, Lu Youyong
Department of Microbiology, Basic Medical College of Inner Mongolia Medical University, Hohhot, Inner Mongolia, China.
Laboratory of Molecular Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing, China.
Mitochondrial DNA B Resour. 2018 Aug 29;3(2):1002-1008. doi: 10.1080/23802359.2018.1501287.
The present study investigated the single nucleotide variants (SNVs) in mitochondrial DNA (mtDNA) of 13 paired gastric cancer tissue samples and seven gastric cancer cell lines using direct sequencing analysis of the region. Results showed that nuclear mitochondrial pseudogenes (NUMTs) and mitochondrial copy number affected the detection of the SNV frequency in gastric cancer tissue and cell line samples using high-throughput sequencing technique. The heteroplasmic point mutation C12474T and G12835A happened in AGS and BGC823 cell lines, respectively. A total of seven SNVs were found in three paired gastric cancer tissue samples, including five heteroplasmic point mutations (A12406G, C12705T, T12882C, G12501A, and A12584G) and two homoplasmic point mutations (G12561A and C13590T). Gastric cancer tissue sample 16 exhibited the highest SNVs frequency with four SNVs (np 12406, np 12705, np 12882, and np 12501), whereas no SNVs or SNPs were detected in the tissue sample 4. SNP 12705 turned out to be an SNV in gastric cancer tissue sample 16. SNV 12338 detected by exome sequencing approach appeared to be an SNP in this study.
本研究采用对该区域的直接测序分析，调查了13对胃癌组织样本和7种胃癌细胞系线粒体DNA（mtDNA）中的单核苷酸变异（SNV）。结果表明，核线粒体假基因（NUMT）和线粒体拷贝数影响了使用高通量测序技术检测胃癌组织和细胞系样本中SNV频率。异质性点突变C12474T和G12835A分别发生在AGS和BGC823细胞系中。在3对胃癌组织样本中共发现7个SNV，包括5个异质性点突变（A12406G、C12705T、T12882C、G12501A和A12584G）和2个同质性点突变（G12561A和C13590T）。胃癌组织样本16的SNV频率最高，有4个SNV（np 12406、np 12705、np 12882和np 12501），而在组织样本4中未检测到SNV或单核苷酸多态性（SNP）。SNP 12705在胃癌组织样本16中被证明是一个SNV。在本研究中，通过外显子组测序方法检测到的SNV 12338似乎是一个SNP。
