摘要
目的 建立转线粒体细胞模型。方法 以聚乙二醇为促融剂 ,采用美国 NIH无线粒体 DNA的 ρ°2 0 6细胞与血小板进行融合实验 ,应用 PCR和电镜细胞化学方法鉴定融合细胞 ,观察了 3个 Rett综合征家系融合细胞的线粒体形态及功能。结果 成功构建了血小板介导的转线粒体细胞模型 ,细胞融合率为0 .5～ 1.6个克隆 / 10 4ρ°细胞。 2例 Rett综合征患儿融合细胞线粒体可见有空泡化改变。结论 转线粒体细胞模型可用于评价融合细胞线粒体外部形态及功能表现 ,可在线粒体基因组基因表达的各个水平上得到广泛应用。
Objective To establish a transmitochondrial cell model for further researches on molecular genetics of mitochondrial related disease. Methods The fusion process was conducted between mitochondrial DNA-lacking ρ° cell (a gift from NIH) and platelet using polyethylene glycol as fusion promoting reagent. The fusion cells were confirmed by PCR and electronic microscopic cytochemistry. The mitochondrial morphology and function of 3 families of Rett syndrome were investigated. Results The platelet-mediated transmitochondrial cell model was constructed successfully. The frequency of transformation ranged from 0. 5 to 1. 6 clones in 104 recipient cells. The mitochondrial vacuolation was occasionally observed in 2 cases of Rett syndrome. Conclusion Transmitochondrial cell model can be applied to assessment of the mitochondrial morphology and function of fusion cells and is found to be of great use in evaluating the gene expression of mitochondrial genome at different levels.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2001年第2期132-134,共3页
Chinese Journal of Medical Genetics
