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线粒体脑肌病线粒体DNA突变的定量分析 被引量：4

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摘要 目的:定量检测线粒体脑肌病突变型线粒体DNA(mtDNA)所占的比例。方法:提取线粒体脑肌病患者血液和骨骼肌总DNA,以2对寡核苷酸为引物进行PCR扩增,应用ApaI和BglⅠ酶酶切和琼脂糖电泳检测突变;在PCR反应最后一个循环加入α-32P-dCTP,产物同样酶切后进行聚丙烯酰胺凝胶电泳,放射自显影,光度扫描仪扫描分析。结果:病例1和2存在A3243G点突变,病例1的血液和骨骼肌突变型mtDNA分别为35.2%和65.9%,病例2的为37.0%和63.6%;病例3存在A8344G点突变,其血液和骨骼肌突变型mtDNA分别为51.0%和78.0%。结论:A3243G及A8344G位点突变分别与线粒体脑肌病伴高乳酸血症及卒中样发作(MELAS)和肌阵挛性癫痫伴破碎红纤维(MERRF)的发病有关,不同组织突变型mtDNA所占比例不同。
作者 张炳峰 牛琦 潘世扬
机构地区 南京医科大学第一附属医院临床检验中心 南京医科大学第一附属医院神经内科
出处 《实用医学杂志》 CAS 2006年第5期582-584,共3页 The Journal of Practical Medicine
关键词 线粒体脑肌病 线粒体蛋白质 类放射自显影 定量分析
分类号 R746 [医药卫生—神经病学与精神病学]
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参考文献11

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二级参考文献10

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实用医学杂志
2006年 第5期

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