线粒体DNA D-loop基因多态性与肾透明细胞癌发病的相关性分析

摘要

目的 探讨线粒体DNA(mtDNA) D-loop基因多态性与肾透明细胞癌的关系.方法 选取2014年3月～2017年2月在我院治疗的肾透明细胞癌患者63例为观察组,同时选取健康志愿者70例为对照,对mtDNA D-loop区进行扩增并测序,比较两组mtDNA-loop区多态性差异.结果 观察组和对照组mtDNA D-loop区共发现135个多态性位点,其中9个位点分布频率＞5％,最终发现两组262位点基因型频率分布符合Hardy-Wenberg定律;观察组TT基因型及等位基因T频率分布为19.05％和38.89％,明显高于对照组(P＜0.05);不同性别、年龄、病理分级和临床分期肾透明细胞癌患者mtDNA D-loop区262位点基因多态性分布差异无统计学意义(P＞0.05);CC基因型和CT基因型患者中住生存时间分别为40.40个月和40.20个月,明显高于TT基因型患者的34.81个月,比较差异有统计学意义(P＜0.05).结论 肾透明细胞癌患者mtDNA D-loop区262位点携带等位基因T的频率明显升高,但其与临床病理特征无明显关系,而与患者的预后有关,需进一步研究.%Objective To investigate the relationship between mitochondrial DNA (mtDNA) D-loop gene polymorphism and renal clear cell carcinoma.Methods 63 patients with renal clear cell carcinoma treated in our hospital from March 2014 to February 2017 were selected as the observation group.70 healthy volunteers were selected as control group.The mtDNA D-loop region was amplified and sequenced,and the difference of mtDNA-loop polymorphism between the two groups was compared.Results 135 polymorphic loci were found in the mtDNA D-loop regions in the observation group and the control group,of which the frequency of the 9 loci was＞5 ％.The genotype frequency distribution of the two groups of 262 loci was consistent with Hardy-Wenberg's law.The frequency of TT genotype and allele T in the observation group was 19.05 ％ and 38.89 ％,which was significantly higher than that in the control group (P＜ 0.05).There were no statistically significant differences in the polymorphism of mtDNA D-loop 262 loci between patients with different gender,age,pathological grade and clinical stage (P＞0.05).The median survival time of patients with CC genotype and CT genotype was 40.40 months and 40.20 months,which was significantly higher than that of TT genotype patients 34.81 months,and the difference was statistically significant (P＜0.05).Conclusion In patients with clear cell renal cell carcinoma,the frequency of allele T in mtDNA D-loop region 262 loci is obviously higher,but it has nothing to do with clinical pathological features.Whether it is relate to patient prognosis,it needs further study.