| 神经肌肉疾病中线粒体DNA的部分缺失 |
| |
| 引用本文： | 李方园,黄鹰.神经肌肉疾病中线粒体DNA的部分缺失[J].中华医学遗传学杂志,1994,11(4):193-196,T013. |
| |
| 作者姓名： | 李方园 黄鹰 |
| |
| 作者单位： | 南京铁道医学院生物学教研室，南京市脑科医院病理科 |
| |
| 基金项目： | 国家自然科学基金,铁道部青年基金 |
| |
| 摘 要： | 用ＰＣＲ技术对２５例患有神经肌肉性疾病患者的共３０份标本进行了线粒体ＤＮＡ缺失的研究。结果发现在３例帕金森氏病患者共４份标本（包括骨骼肌组织以及外周血），３例肌营养不良（２例为Ｅｒｂ，１例为面肩肱型）患者的骨骼肌组织中，存在线粒体ＤＮＡ在５２６ｂｐ区域或附近的部分。并对线粒体ＤＮＡ的部分与神经肌肉性疾病发生间的关系进行了讨论。
|
| 关 键 词： | 线粒体DNA 肌营养障碍 震颤性麻痹 |
THE PARTIAL DELETION OF MITOCHONDRIAL DNA IN NEUROMUSCULAR DISEASES |
| |
| Li Fangyuan,Huang Ying,Zhang Lishan,et al..THE PARTIAL DELETION OF MITOCHONDRIAL DNA IN NEUROMUSCULAR DISEASES[J].Chinese Journal of Medical Genetics,1994,11(4):193-196,T013. |
| |
| Authors: | Li Fangyuan Huang Ying Zhang Lishan |
| |
| Abstract: | Thirty samples from twenty-five patients with neuromuscular diseases were studied using PCR method.The result showed the deletions of mitochondrial DNA in or around the stretch of 526 bp in 4 samples(including 3 skeletal muscle samples and 1 peripheral blood sample) from 3 patients with Parkinson's disease and in 3 skeletal muscle samples from musclar dystrophies(two Erb type and one facioscapulohumeral type).A discussion on the relationship between the partial deletion of mitochondrial DNA and the pathogenesis of neuromuscular diseases is presented. |
| |
| Keywords: | Mitochondrial DNA Partial deletion Parkinson's disease Muscular dystrophy |
| 本文献已被 CNKI 维普 等数据库收录！ |
