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- W91263166 abstract "Objective To find the new mutations of Leber's hereditary optic neuropathy (LHON).Methods Two LHON families were enrolled in this study.The probands and all maternal members in this two families were underwent ophthalmologic examinations.The ages of probands were seven and 14 years old respectively.A total of 358 healthy adults were enrolled in this study as control group.The genomic DNA from whole blood of participants were extracted.The entire mitochondrial genome of probands were PCR-amplified and sequenced in 24 overlapping fragments using primers as designed.At the same time,the mtDNA of maternal relatives and 358 controls were also detected.Fourteen primate species were selected from GenBank to analyzed the phylogenetics of mitochondrial sequence.Results There was no ND4 G11778A,ND1 G3460A,ND6 T14484C mutational site in all maternal members.Molecular analysis of mtDNA in this two families identified the homoplasmic tRNAGlu A14683G mutation and distinct set of variants belonging to the Asian haplogroup F1a1 and G2.The site was at theT(φ)C-stem of tRNAGlu and extremely conserved among 14 primate species.It was anticipated that the A14683G increased the highly conserved C-G base-pairing.Furthermore,the A14683G was absence in control group.Conclusion The tRNAGlu A14683G mutation is likely a new mutation associated with LHON.Key words: Optic atrophy,hereditary,Leber/etiology; DNA,nitochondrial; Mutation" @default.
- W91263166 created "2016-06-24" @default.
- W91263166 creator A5030085945 @default.
- W91263166 date "2013-05-17" @default.
- W91263166 modified "2023-09-24" @default.
- W91263166 title "Leber遗传性视神经病变家系tRNA Glu A14683G突变的检测分析" @default.
- W91263166 doi "https://doi.org/10.3760/cma.j.issn.1005-1015.2013.03.009" @default.
- W91263166 hasPublicationYear "2013" @default.
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