CAJ | 학술논문

目的通过对口腔鳞状细胞癌(oral squamous cell carcinoma,OSCC)线粒体DNA(mitochondrial DNA)的D环区基因的检测,筛选与OSCC相关的突变位点.方法收集30例OSCC患者新鲜癌组织、癌周组织及正常口腔黏膜组织标本,提取线粒体DNA,PCR扩增,检测线粒体DNAD环区的基因序列,应用Chromas软件及BLAST方法分析、筛选其基因突变位点.结果 30例OSCC中,检测出8例存在D环区突变位点,突变率为27％.突变位点共9个,其中点突变1个、碱基缺失2个、插入突变3个、杂合突变3个,以上突变中,碱基缺失和杂合突变没有相同的碱基及杂合突变形式,而插入突变的3个样本都为碱基C的插入.其中1例除碱基C插入外,还同时存在T/A杂合突变.结论 OSCC存在线粒体DNA D环区的突变.
목적 통과대구강린상세포암(oral squamous cell carcinoma,OSCC)선립체DNA(mitochondrial DNA)적D배구기인적검측,사선여OSCC상관적돌변위점.방법 수집30례OSCC환자신선암조직、암주조직급정상구강점막조직표본,제취선립체DNA,PCR확증,검측선립체DNAD배구적기인서렬,응용Chromas연건급BLAST방법분석、사선기기인돌변위점.결과 30례OSCC중,검측출8례존재D배구돌변위점,돌변솔위27％.돌변위점공9개,기중점돌변1개、감기결실2개、삽입돌변3개、잡합돌변3개,이상돌변중,감기결실화잡합돌변몰유상동적감기급잡합돌변형식,이삽입돌변적3개양본도위감기C적삽입.기중1례제감기C삽입외,환동시존재T/A잡합돌변.결론 OSCC존재선립체DNA D배구적돌변.
Objective To investigate the gene mutation in D-loop region of mitochondrial DNA (mtDNA) in oral squamous cell carcinoma (OSCC) tissue and to explore the role of the gene mutation in D-loop region in the OSCC tumorigenesis.Methods mtDNA was obtained from cancer,paracancerous and normal mucosa tissues of thirty patients with OSCC.The D-loop regions of mtDNA were amplified with PCR,sequencing and then analyzed by Chromas software and BLAST to identify the mutation site.Results Mutation in the D-loop region was found in eight cases,with the mutation rate of 27％.There were nine mutations totally,including one point mutation,two base deletions,three insertion mutations,three heterozygous mutations.In these mutations,base deletions were different from each other and heterozygous mutations had no same mutation form,while the three insertion mutations were same,the insertion of base C.One case had T/A heterozygous mutation and base C insertion at the same time.Conclusions There were mutations in mtDNA D-loop in OSCC,but the relationship between occurrence of OSCC and mutation of mtDNA needs further study.