A new polymorphism locus of mitochondrial DNA in patients with Leber’s hereditary optic neuropathy

Objective: To find the mitochondrial DNA mutation in patients with familial Leber’s hereditary optic neuropathy（LHON）. Methods: Genomic DNA was extracted from patients with familial LHON.Polymerase chain reaction（PCR） was performed to screen for mitochondrial DNA mutations.Direct sequencing and restriction endonucleases were used to find the mitochondrial DNA mutation. Results: G11778 A mutation and 4 kinds of mitochondrial DNA polymorphism were detected in LHON patients.G14476A is a newly-found locus. Conclusion: G11778A can cause mitochondrial DNA mutation in patients with LHON.G14476A is a new polymorphism locus of mitochondrial DNA.