Mutations spectrum of mitochondrial DNA 14484 mutations combined with other secondary mutations with Leber hereditary optic neuropathy

Objective: To analyze the 14484 mutation of Leber hereditary optic neuropathy(LHON) and the clinical features in Chinese patients.Methods:57 patients suspected of having LHON 14484 mutation were detected by polymerase chain reaction(PCR),single strand conformation polymorphism reaction(SSCP),restriction fragment length polymorphisms(RFLP) and measurement of DNA sequence had been done for PCR products.20 healthy adults were selected as control.Results:In the 57 patients suspected of having LHON,mtDNA14484 mutation was found in 9 probands(15.8%),including 2 patients with 14484 mutation(22.2%),3 patients with 14484 and 14502 mutations(33.3%),3 patients with 14484 and 14470 mutations(33.3%),1 patient with 14484 and 14569 mutations(11.1%).The results of measurement of DNA sequence for normal healthy adults were normal.Conclusion:In the LHON patients of mtDNA 14484 mutation in Henan,China,there is a tendency of the primary 14484 mutation and second mutations simultaneously,the mutations of 14484 + 14502 and 14484 + 14470 are main.Research on spectrum of the primary mtDNA mutation and second mutations in LHON is developed,it is of the significance to the risk factors of the disease occurred,risk prediction,diagnosis and prevention.