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2005•Journal of Zhengzhou UniversityRequires access

Penetrance and mutations of mitochodrial DNA 11778 in Chinese Leber's hereditary optic neuropathy patients of Han nationality

Pei-jie Du

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Abstract

Aim: To analyze the penetrance and mutations of mitochodrial DNA(mtDNA) at 11778 site in Chinese Leber's hereditary optic neuropathy(LHON) patients of Han nationality. Methods: A total of 31 maternal members (14 males and 17 females) from three LHON Chinese pedigrees (including 15 patients), and 40 normal healthy controls were subjected to detect the mutation at 11778 site of mtDNA using PCR-SSCP method. Results and Conclusion: In three LHON pedigrees,all the 31 maternal members had the 11778 mtDNA primary mutation(G→A),suggesting there is mutation at 11778 site of mtDNA in Chinese patients with LHON. The average penetrance was 48.4%,which was higher in males(11/15) than that in females(4/16).The penetrance and the age of males decreased with the generation.

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Aim: To analyze the penetrance and mutations of mitochodrial DNA(mtDNA) at 11778 site in Chinese Leber's hereditary optic neuropathy(LHON) patients of Han nationality. Methods: A total of 31 maternal members (14 males and 17 females) from three LHON Chinese pedigrees (including 15 patients), and 40 normal healthy controls were subjected to detect the mutation at 11778 site of mtDNA using PCR-SSCP method. Results and Conclusion: In three LHON pedigrees,all the 31 maternal members had the 11778 mtDNA primary mutation(G→A),suggesting there is mutation at 11778 site of mtDNA in Chinese patients with LHON. The average penetrance was 48.4%,which was higher in males(11/15) than that in females(4/16).The penetrance and the age of males decreased with the generation.

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Available abstract

Aim: To analyze the penetrance and mutations of mitochodrial DNA(mtDNA) at 11778 site in Chinese Leber's hereditary optic neuropathy(LHON) patients of Han nationality. Methods: A total of 31 maternal members (14 males and 17 females) from three LHON Chinese pedigrees (including 15 patients), and 40 normal healthy controls were subjected to detect the mutation at 11778 site of mtDNA using PCR-SSCP method. Results and Conclusion: In three LHON pedigrees,all the 31 maternal members had the 11778 mtDNA primary mutation(G→A),suggesting there is mutation at 11778 site of mtDNA in Chinese patients with LHON. The average penetrance was 48.4%,which was higher in males(11/15) than that in females(4/16).The penetrance and the age of males decreased with the generation.

Key concepts: Penetrance, Leber's hereditary optic neuropathy, Mitochondrial DNA, Pedigree chart, Genetics, Optic neuropathy, Han chinese, Mutation

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Penetrance and mutations of mitochodrial DNA 11778 in Chinese Leber's hereditary optic neuropathy patients of Han nationality — Research Paper | ScholarLens