线粒体tRNATyrA5834G突变与Leber遗传性视神经病变的相关性

doi:10.3969/j.issn.2095-9400.2020.09.001

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Abstract Objective: To investigate the possible relationship between mitochondrial tRNATyrA5834G mutation and Leber’s hereditary optic neuropathy (LHON). Methods: Clinical data were collected from two pedigrees, and detailed ophthalmological examination and mitochondrial genomes were conducted for the two proband members.Detailed eye examinations mitochondrial whole genome analysis phylogenetic analysis and haplotype analysis were performed on probands and other members of the pedigrees. Results: The clinical symptoms and ophthalmological examinations of the probands were in line with typical LHON manifestations,
and other members of the family were not abnormal. The two pedigrees did not carry the three primary mitochondrial mutation sites of ND1 G3460A and ND4 G11778A and ND6 T14484C. The polymorphic mutation sites belonged to the East Asian haplotype M7b. Both probands carried highly conserved A5834G mutation sitesamong which the conservative coefficient of A5834G in 17 species was 87.5%. Conclusion: The mitochondrial tRNATyrA5834G mutation may be the mtDNA mutation site associated with LHON and the low penetrance rate suggests that other factors (including nuclear modified genes environment etc.) may affect the phenotypicexpression of these two families.

Key words： Leber’s hereditary optic neuropathy penetrance mitochondrial DNA mitochondrial mutation fundus examination

Received: 26 April 2020

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	HU Cuifang
	KONG Wanzhong
	CHEN Mengquan
	LIANG Min2
	GUAN Minxin

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https://xb.wmu.edu.cn/EN/ 10.3969/j.issn.2095-9400.2020.09.001 OR https://xb.wmu.edu.cn/EN/Y2020/V50/I9/689

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