CAJ | 학술논문

目的：通过检测肾癌基因组 D 环区体细胞突变及种系性变异情况,探讨其与肾癌发生的关系。方法选取肾癌患者20例,对其癌组织、癌旁组织及外周血细胞总 DNA进行 PCR扩增并测序,相关结果与线粒体文库中剑桥序列进行比对,综合分析基因突变类型。结果在20例肾癌患者各组织中,共有7例检出线粒体DNA(mitochondrial DNA,mtDNA)的D-环区(displancement loop,D-Loop)存在突变,突变发生率为35%,涉及突变位点17个,其中4个属微卫星不稳定序列；20例患者中共发现9个基因库未记载的新的多态性变化。结论肾癌患者mtDNA的D环区具有高度多态性和高度突变率,该区的基因突变在肾癌的形成中可能发挥重要作用。
목적：통과검측신암기인조 D 배구체세포돌변급충계성변이정황,탐토기여신암발생적관계。방법선취신암환자20례,대기암조직、암방조직급외주혈세포총 DNA진행 PCR확증병측서,상관결과여선립체문고중검교서렬진행비대,종합분석기인돌변류형。결과재20례신암환자각조직중,공유7례검출선립체DNA(mitochondrial DNA,mtDNA)적D-배구(displancement loop,D-Loop)존재돌변,돌변발생솔위35%,섭급돌변위점17개,기중4개속미위성불은정서렬；20례환자중공발현9개기인고미기재적신적다태성변화。결론신암환자mtDNA적D배구구유고도다태성화고도돌변솔,해구적기인돌변재신암적형성중가능발휘중요작용。
Objective To investigate the potential role of mitochondrial DNA mutations in tumorigenesis of re-nal cell carcinoma and analyze somaticmutations and polymorphisms of mitochondrial D-loop region in renal cell carcinoma.Methods The D-loop of mitochondrial DNA in tumor samples,paired normal tissues and peripheral blood samples were amplified by PCR and sequencing.The sequences were compared with the Cambridge sequence reported in Mitomap to analyze the mutation types.Results Seven variations were found in total 20 tumors.Muta-tion rate was 3 5%,1 7 point mutations,of which 4 are microsatellite instability.Nine of the new gene pool was not recorded in the polymorphism changes in total 20 tumors.Conclusion Mitochondrial DNA D-loop has high poly-morphisms and high somatic mutations.The variants of the region might play an important role in tumorgenesis of renal cell carcinoma.