Leigh综合征的线粒体DNA突变分析

来源 :中华神经科杂志 | 被引量 : 0次 | 上传用户：grchenpk

【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、A834

【作者】

：

王朝霞杨艳玲张月华袁云戚豫陈清棠

【机构】

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北京大学第一医院神经内科,北京大学第一医院儿科,北京大学第一医院中心实验室

【出处】

：

中华神经科杂志

【发表日期】

：

2004年期

【关键词】

：

Leigh病 DNA 线粒体点突变

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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T8993G 1例、T8993C 1例、A8344G 2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.

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Leigh综合征的线粒体DNA突变分析

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