线粒体DNA11778突变所致Leber遗传性视神经病变外显率分析

目的 分析携带线粒体DNA（mitochondrialDNA,mtDNA)11778突变者视神经病变的外显率。方法 对经基因诊断确定为mtDNA11778突变的Leber遗传性视神经病变（Leber hereditary optic neuropathy,LHON)家系进行分析。确定mtDNA11778突变携带者及患者。结果 16个家系中mtDNA11778突变携带者130人，其中男65人，女65人，130人突变携带者中43人患病，外显率33.1%。男性患者34人，男性外显率52.3%，女性患者9人，女性外显率13.8%，男女患病比率3.8:1，患者中男性占79%。结论 携带纯合性mtDNA11778位点突变的中国人，LHON外显率近1/3。

Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation

OBJECTIVE: To analyze the penetrance of Leber hereditary optic neuropathy (LHON) in families with homoplasmic mitochondrial DNA (mtDNA) 11778 mutation. METHODS: Maternal relatives of 16 families were analyzed based on ocular phenotype and primary mtDNA mutation analysis. RESULTS: One hundred and thirty individuals from the 16 families harbored the 11778 mutation. Of the 130 individuals, 65 were male and 65 female. Forty-three individuals (34 male and 9 female) were affected with LHON. The penetrance of LHON in the 16 families ranged from 13.3% to 66.7%, with an average penetrance of 33.1%. Males, with an average penetrance of 52.3%, were more affected than females who had an average penetrance of 13.8%. About 79% of the affected individuals were male with a male to female ratio of 3.8: 1. The number of affected females found in the families analysis is greater than that in the probands analysis where only 3 of 41 probands with LHON and mtDNA11778 mutation were female(male to female ratio =12.7:1). CONCLUSION: The penetrance of LHON in Chinese individuals with homoplasmic mtDNA11778 mutation is about one third,which is within the range of that in Caucasion.