Wang Lei, Cheng He-Xiang, Zhou Yan-Hui, Ma Min
Department of Otorhinolaryngology, Head and Neck Surgery, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic of China.
Department of Otolaryngology, The Luoyang First People's Hospital, Luoyang, 471000, People's Republic of China.
Onco Targets Ther. 2021 May 26;14:3461-3466. doi: 10.2147/OTT.S304836. eCollection 2021.
The aim of the present study was to investigate the D-loop gene mutation and microsatellite instability in the mitochondrial DNA (mtDNA) and the correlation with the clinical and pathological parameters in laryngeal cancer.
The tumor tissues and paratumor tissues in 60 cases of laryngeal cancer were selected, and DNA was extracted from these tissues. The D-loop region in mtDNA was amplified by PCR with the gene sequence of the amplified product being detected. The gene sequence of the detected region was compared with the revised Cambridge Reference Sequence (rCRS) and the related database by using the Mitomaster software. The correlation between the D-loop gene mutation and the clinical and pathological parameters was investigated.
A total of 174 mutations across 38 sites were detected in 51 (85%) of samples. Most of the mutations were concentrated in the high various (HV) I region, and the main types of mutations were the substitution of a single base or insertion and deletion of a single base. There was also microsatellite instability in the D310 region. The statistical results showed that there was no correlation between the age, gender, tumor diameter, and TNM stage, and the number of the D-loop mutations in mtDNA (P > 0.05).
There existed high-frequency mutation of the D-loop gene in mtDNA in laryngeal cancer, which might play an important role in the pathogenesis of laryngeal cancer.
本研究旨在探讨喉癌中线粒体DNA（mtDNA）的D环基因突变及微卫星不稳定性及其与临床病理参数的相关性。
选取60例喉癌患者的肿瘤组织和癌旁组织，提取组织中的DNA。采用聚合酶链反应（PCR）扩增mtDNA的D环区域，并对扩增产物的基因序列进行检测。利用Mitomaster软件将检测区域的基因序列与修订的剑桥参考序列（rCRS）及相关数据库进行比对。研究D环基因突变与临床病理参数之间的相关性。
在51份（85%）样本中，共检测到38个位点的174处突变。大部分突变集中在高变区（HV）I，主要突变类型为单碱基替换或单碱基插入和缺失。D310区域也存在微卫星不稳定性。统计结果显示，年龄、性别、肿瘤直径和TNM分期与mtDNA中D环突变数量之间无相关性（P>0.05）。
喉癌中mtDNA的D环基因存在高频突变，可能在喉癌发病机制中起重要作用。
