Article
TaqMan-MGB probe quantitative PCR assays to genotype and quantify three mtDNA mutations of Leber hereditary optic neuropathy.
Scientific reports - 23 Jul 2020
Xue Bingqian, Li Yang, Wang Xin, Li Rui, Zeng Xin, Yang Meihua, Xu Xiaohui, Ye Tingbo, Bao Liming, Huang Yi
Abstract excerpt
Leber hereditary optic neuropathy (LHON) is a degenerative disease of the optic nerve associated with one of three mitochondrial DNA (mtDNA) m.3460G>A, m.11778G>A and m.14484T>C mutations. Although several procedures are available to genotype these mutations, quantitative approaches with rapid, low-cost and easy to handle advantages for three LHON mtDNA mutations are rarely reported. Here, we firstly developed a...
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