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| Leigh综合征的线粒体DNA突变分析 | |
| 引用本文： | 王朝霞,杨艳玲,张月华,袁云,戚豫,陈清棠.Leigh综合征的线粒体DNA突变分析[J].中华神经科杂志,2003,36(1):28-31. |
| 作者姓名： | 王朝霞 杨艳玲 张月华 袁云 戚豫 陈清棠 |
| 作者单位： | 1. 100034,北京大学第一医院神经内科 2. 100034,北京大学第一医院儿科 3. 100034,北京大学第一医院中心实验室 |
| 摘 要： | 目的：了解中国人Leigh综合征的线粒体DNA（mtDNA）突变特点。方法：对12例LS患者用Southern杂交和PCR－限制性内切酶分析的方法检测有无mtDNA的缺失及T8993G、T8993C、T9176C、A8344G、A3243G等点突变。结果：在4例患者中发现mtDNA点突变，包括T8993G1例、T8993C1例、A8344G2例，定量分析表明突变型mtDNA的比例均较高，为87．2％－97．8％，未发现mtDNA的大片段缺失及T9176C、A3243G点突变。结论：LS在遗传方面有显著的异质性，根据不同的病因，临床表现略有差异。 |
| 关 键 词： | Leigh病 线粒体DNA 点突变 |
| 修稿时间： | 2002年3月18日 |
Mitochondrial DNA mutation analysis in Leigh syndrome |
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| WANG Zhao xia ,YANG Yan ling,ZHANG Yue hua,et al.Mitochondrial DNA mutation analysis in Leigh syndrome[J].Chinese Journal of Neurology,2003,36(1):28-31. | |
| Authors: | WANG Zhao xia YANG Yan ling ZHANG Yue hua |
| Institution: | WANG Zhao xia *,YANG Yan ling,ZHANG Yue hua,et al * Department of Neurology,the First Hospital of Peking University,Beijing 100034,China |
| Abstract: | Objective To investigate the characteristics of mitochondrial DNA mutations in Chinese patients with Leigh syndrome Methods Screening mtDNA T8993G,T8993C,T9176C,A8344G,A3243G point mutations and deletion in 12 patients with Leigh syndrome by PCR restriction analysis and Southern blotting Results Four patients were identified as harboring mtDNA point mutations:1 with T8993G,1 with T8993C,and 2 with A8344G The proportion of mutant mtDNA was high,ranging from 87 2% to 97 8% T9176C,A3243G point mutations or large scale deletions were not detected Conclusion There is extensive genetic heterogeneity in LS;There may be some subtle differences in clinical presentation of LS patients depending on their etiology |
| Keywords: | Leigh disease DNA Mitochondrial Point mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |