Purpose:To investigate the frequency of common pathogenic primary mitochondrial DNA mutations in Leber's hereditary optic neuropathy(LHON)families.Methods:Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)and DNA sequencing were used to detect mitochondrial DNA mutations.Sixty-six Chinese examiners from 15 families,including 22 visual affected and their 44 unaffected maternal relatives,underwent molecular genetic evaluation.Eleven normal individuals underwent evaluation as control.Results:Of the 15 families with suspicion of LHON,13 had nucleotide position(nt)G11778A mutations,2 had nt T14484C mutations.All examiners had nt G11719A mutation.Conclusions:The mutations at nucleotides 11778 and 14484 are primary LHON mutations.Molecular genetic findings suggest that the silent mutation at nt G11719A may be a common genetic polymorphism in Chinese.
展开▼
