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目的:探讨原发性高血压患者线粒体DNA控制区基因变异,并评估其在高血压发病中的作用。方法:提取符合WHO高血压诊断标准的20例原发性高血压患者和20例正常血压者的DNA。用3对交叉重叠引物扩增全部线粒体控制区D环基因,进行直接基因测序和对比分析。结果:原发性高血压患者线粒体D环控制区的变异频率及密度犤13.95个/例,0.19/(100个碱基·例)犦均高于正常血压组犤10.7个/例,0.14/(100个碱基·例犦χ2=11.84,P<0.01)。线粒体转录因子结)(合位点1区域呈高变异状态,而且存在部分微卫星区的不稳定,np152C及np16189C的多态性变化可能为高血压的高风险位点。结论:原发性高血压患者D环区基因高变异率,线粒体DNA控制区变异可能与高血压的发病存在密切的关联。
Objective: To investigate the genetic variation of mitochondrial DNA control region in patients with essential hypertension and evaluate its role in the pathogenesis of hypertension. Methods: The DNA of 20 cases of essential hypertension and 20 cases of normal blood pressure were collected according to WHO diagnostic criteria of hypertension. Three pairs of overlapping primers were used to amplify all D-loop genes in the mitochondrial control region for direct gene sequencing and comparative analysis. Results: The frequency and density of mitochondrial D loop control region in patients with essential hypertension were 13.95 cases / case, 0.19 cases / 100 cases / case, and were higher than those in normotensive group (10.7 cases / case, 0.14 cases / 100 bases · Example 犦 × 2 = 11.84, P <0.01). Mitochondrial transcription factor (nodulation point 1 region showed high variation, and there are some microsatellite instability, np152C and np16189C polymorphism may be high-risk sites of hypertension.Conclusion: The high High blood pressure patients with D-zone gene mutation rate, mitochondrial DNA control region variation may be closely linked with the incidence of hypertension.