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 in Chinese individuals with mitochondrial DNA 11778 mutation

目的 分析携带线粒体 DNA(mitochondrial DNA,mt DNA) 11778突变者视神经病变的外显率。方法 对经基因诊断确定为 mt DNA11778突变的 L eber遗传性视神经病变 (L eber hereditary opticneuropathy,L HON )家系进行分析 ,确定 mt DNA11778突变携带者及患者。结果 16个家系中mt DNA11778突变携带者 130人 ,其中男 6 5人 ,女 6 5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 5 2 .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 mt DNA11778位点突变的中国人 ,L HON外显率近 1/ 3。

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.