Article
[The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation].
Yi chuan = Hereditas - 1 Apr 2014
Meng Xiangjuan, Zhu Jinping, Gao Min, Zhang Sai, Zhao Fuxin, Zhang Juanjuan, Liu Xiaoling, Wei Qiping, Tong Yi, Zhang Minglian, Qu Jia, Guan Minxin
Abstract excerpt
The m.14484T>C mutation in mitochondrial ND6 gene (MT-ND6) is a primary mutation underlying the development of Leber's hereditary optic neuropathy (LHON) , but by itself not enough to cause visual loss. To explore the role of mitochondrial haplogroups on the expression of LHON for the people carrying the m.14484T>C mutation, we performed systematic and extended mutational screening of MT-ND6 gene in a cohort of...
Topics
- Adolescent
- Adult
- Asian People
- Child
- DNA, Mitochondrial
- Female
- Genomics
- Haplotypes
- Humans
- Male
- Mutation
- NADH Dehydrogenase
- Optic Atrophy, Hereditary, Leber
- Young Adult