乳腺癌患者血浆线粒体D环高变区基因突变研究

The research for mtDNA D-loop gene mutation in plasma of primary breast cancer patients

目的:研究检测血浆线粒体DNA基因突变对于乳腺癌诊断的参考价值。方法:选取乳腺癌患者35例,健康 对照者10人,提取血浆DNA,设计两对引物,采用聚合酶链反应(PCR)扩增血浆线粒体DNA的D环HVR1和HVR2,然后用 变性高效液相色谱法(DHPLC)对产物进行突变筛选。结果:乳腺癌患者的血浆DNA扩增率(46/140)和筛选的突变率(5/46) 与对照组比较,差异具有显著性(P<0.05)。结论:检测血浆线粒体DNA基因突变可能对于乳腺癌的诊断具有重要意义。

Objective:This study was designed to identify mtDNA D-loop HVR gene mutations in plasma of primary breast cancer patients to study the clinical significance of mtDNA D-loop gene mutations associated with breast cancer.Methods:The plasma DNA in 35 primary breast cancer patients and 10 normal healthy people were extracted and mtDNA D-loop HVR1 and HVR2 fragments were amplified with designed two pairs of primers by PCR.The mutations of products were screened by denaturing high performance liquid chromatography(DHPLC).Results:Comparing with that of healthy group,amplified DNA ratio(46/140)and mutation ratio(5/46) in plasma of breast cancer have statistic means(P<0.05).Conclusion:It indicates that mtDNA gene mutations in plasma may play an important role in primary breast cancer carcinogenesis.