ArticleAuthors: Phung, Bao Khanh; Nguyen, Van Minh; Nguyen, Thi Hong Loan; Pham, Van Anh; ... (2017)
G11778A mutation in the ND4 gene of human mitochondrial genome accounts for 50-70% of LHON syndrome. In this study, we set up real-time PCR using fluorescent Taqman probe with locked nucleic acid nucleotide (LNA) for detection and quantitation of mitochondrial genome mutation G11778A. The real-time PCR showed a linear correlation between logarithm of target gene copy number and threshold value (Ct) with a high regression value R2 = 0.999. By using PCR-RFLP in combination of real-time PCR, we found a 7.5 month girl patient carrying G11778A mutation. The mutation was present at 2.71±0.12% of heteroplasmy. whereas her parents did not carry this mutation. This is the first case with the ... 
