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目的 对 10例MELAS型线粒体脑肌病患者进行线粒体DNAA32 4 3G点突变的检测。方法;;用PCR限制性内切酶分析法(restrictionanalysis);;检测10例MELAS患者及其8名母系亲属的肌肉和/或外周血细胞中有无mtDNA的A3243G点突变;;并进行突变型mtDNA的定量。结果;;在10例患者的肌肉和/血细胞中;;均检测到A3243点突变。突变型mtDNA的比例在血细胞(7例)中为108%-478%;;在肌肉(5例)中为394%-677%。有2例患者同时进行了肌肉和血细胞标本的检测;;突变型mtDNA的比例肌肉组织均高于血细胞。在血细胞中;;年轻患者的突变型比例通常较高。在1个家系中可证实为母系遗传。但在3例先证者的母亲及2例先证者的同胞均未检测到此突变。结论;;10例MELAS综合征患者均携有mtDNAA3243G点突变。在6个家庭中;;只有1个家庭可证实为母系遗传;;另外5个家庭中此突变可能为散发性;;提示在中国人MELAS的发病机制中;;mtDNAA3243G点突变为新生突变的居多。
Objective To detect mitochondrial DNAA32 4 3G point mutations in 10 MELAS-type mitochondrial encephalomyopathy patients. Methods; PCR restriction endonuclease analysis (restrictionanalysis) ;; detection of 10 MELAS patients and their eight matrilineal muscle and / or peripheral blood cells with or without mtDNA A3243G point mutation; and mutant mtDNA Quantitative. Results; A3243 point mutation was detected in 10 patients with muscle and / or blood cells; The percentage of mutant mtDNA was 108% -478% in blood cells (7 cases); 394% -677% in muscle (5 cases). Two patients had simultaneous detection of muscle and blood cell samples; the proportion of mutant mtDNA in muscle tissue was higher than that of blood cells. In blood cells ;; young patients usually have a higher proportion of mutations. In a family can be confirmed as maternally inherited. However, no mutation was detected in the mothers of the three probands and their compatriots in the two probands. Conclusion; 10 cases of MELAS syndrome patients are carrying mtDNAA3243G point mutations. In 6 families ;; only 1 family can be confirmed as maternally inherited; this mutation may be sporadic in the other 5 families ;; suggesting that in the pathogenesis of Chinese MELAS ;; the majority of mtDNAA3243G point mutations are newborn mutations .