Article
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.
Journal of human genetics - 1 Mar 2014
Ji Yanchun, Liang Min, Zhang Juanjuan, Zhang Minglian, Zhu Jinping, Meng Xiangjuan, Zhang Sai, Gao Min, Zhao Fuxin, Wei Qi-Ping, Jiang Pingping, Tong Yi, Liu Xiaoling, Qin Mo Jun, Guan Min-Xin
Abstract excerpt
To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON), a cohort of 1164 Han Chinese subjects with LHON were screened for ND1 G3460A mutation. A total of 295 subjects from 16 Han Chinese families carrying the G3460A mutation underwent a clinical and genetic evaluation an...
Topics
- Amino Acid Substitution
- Asian People
- China
- Cohort Studies
- DNA Mutational Analysis
- DNA, Mitochondrial
- Diagnostic Techniques, Ophthalmological
- Family
- Female
- Genetic Predisposition to Disease
- Genome, Mitochondrial
- Haplotypes
- Humans