山西地区线粒体DNA11778突变所致Leber遗传性视神经病变外显率分析

Penetrance of Leber hereditary optic neuropathy individuals with mitochondrial DNA 11778 mutation in the Shanxi area

目的 分析山西地区线粒体 DNA11778位点突变者外显率。方法 应用等位基因特异性PCR检测视神经病变者线粒体DNA11778位点 ,对突变者及其母系成员进行分析。结果 在 30个家系中 17个家系仅先证者患病 ,另 13个家系除先证者外母系亲属有 72人携带该位点突变 ,其中 4 0人出现临床症状。结论 山西地区线粒体 DNA11778位点突变者外显率达 5 5 .6 %。

Objective To analyze the penetrance of Leber hereditary optic neuropathy (LHON) individuals with mitochondrial DNA 11778 mutation in Shanxi. Methods Allele-specific PCR was used to detect mtDNA 11778 mutation in LHON patients and their families. Results In 17 families of the 30 families that harbored mtDNA 11778 mutation, only the probands were LHON patients. In the other 13 families, besides the probands, 72 maternal relatives carried mtDNA 11778 mutation. Conclusion The penetrance of LHON individuals with mtDNA 11778 mutation in the Shanxi area is 55.6%.