Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2001
[Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation].
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Zhang Q, Guo X, Jia X, Xiao X, Guo L, Li S
Аннотация
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.
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.