CAJ | 학술논문

目的：探讨线粒体DNA D-loop（mtDNA D-loop）基因多态性与肾透明细胞癌的关系。方法采用聚合酶链反应（PCR）对59例肾透明细胞癌患者（肾癌组）和68例健康对照（对照组）的mtDNA D-loop区进行扩增并测序。将测序结果与线粒体文库中的Revised Cambridge Reference Sequence（rCRS)比对分析。分析2组人群中mtDNA D-loop区多态位点出现频率的差异。结果在对照组和肾癌组中的mtDNA D-loop区共发现143个多态性位点。与对照组比较，肾癌组患者的mtDNA D-loop区的262T、16293G出现的频率明显增高，16298C、16319A出现的频率下降（P＜0.05）。结论 mtDNA D-loop区的多态性分析可作为肾透明细胞癌患者发生的预测因子，有助于早期发现肾透明细胞癌患者。
목적：탐토선립체DNA D-loop（mtDNA D-loop）기인다태성여신투명세포암적관계。방법채용취합매련반응（PCR）대59례신투명세포암환자（신암조）화68례건강대조（대조조）적mtDNA D-loop구진행확증병측서。장측서결과여선립체문고중적Revised Cambridge Reference Sequence（rCRS)비대분석。분석2조인군중mtDNA D-loop구다태위점출현빈솔적차이。결과재대조조화신암조중적mtDNA D-loop구공발현143개다태성위점。여대조조비교，신암조환자적mtDNA D-loop구적262T、16293G출현적빈솔명현증고，16298C、16319A출현적빈솔하강（P＜0.05）。결론 mtDNA D-loop구적다태성분석가작위신투명세포암환자발생적예측인자，유조우조기발현신투명세포암환자。
Objective To investigate the relationship between polymorphisms in mitochondrial displacement-loop (mtDNA D-loop) and renal cell carcinoma. Methods Fifty-nine patients with clear cell renal cell cancer (renal cancer group) and 68 healthy control (control group) were selected in this study. The mtDNA D-loop region was amplified and se-quenced using polymerase chain reaction (PCR). Data were compared and analysed with the Revised Cambridge Reference Sequence (rCRS) in library of mitochondria. The difference in frequency analyses of mtDNA D-loop region was compared be-tween two groups. Results A total of 143 single nucleotide polymorphisms (SNP) of mitochondria D-Loop region were de-tected in renal cancer group and control group. Compared with control group, there were significantly higher frequencies of 262T and 16293G alleles in mitochondria D-loop region, and significantly lower frequencies of 16298C and 16319A alleles, in renal cancer group (P<0.05). Conclusion The analysis of genetic polymorphisms in the D-loop can be used as predic-tors of renal cell carcinoma and contribute to the early detection in patients of renal cell carcinoma.