线粒体DNA D-loop基因多态性与肾透明细胞癌关系的研究

Relationship between Polymorphisms of Mitochondrial DNA Displacement-loop and Renal Cell Carcinoma

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mtDNAD-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。

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＆lt;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.