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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 1 2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、T91 76C、A8344G、A32 4 3G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T91 76C、A32 4 3G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
Objective To understand the characteristics of mitochondrial DNA (mtDNA) mutations in Chinese Leigh syndrome. Methods The deletion of mtDNA and the point mutations of T8993G, T8993C, T91 76C, A8344G and A32 4 3G were detected by Southern blot and PCR restriction endonuclease analysis in 12 patients with LS. Results Mutations of mtDNA were found in 4 patients, including 1 case of T8993G, 1 case of T8993C and 2 cases of A8344G. Quantitative analysis showed that the percentage of mutant mtDNA was high from 87 2% to 97 8%. No large deletion of mtDNA and no point mutations of T91 76C and A32 4 3G were found. Conclusion LS has significant genetic heterogeneity; clinical manifestations differ slightly depending on the etiology