title: [Mitochondrial DNA mutation in Leber's hereditary optic neuropathy in China].
abstract: Leber's hereditary optic neuropathy (LHON), a typical maternally inherited disease, is caused by a single nucleotide change of G to A at the site of nucleotide 11,788 of mtDNA. We used PCR method to analysis mtDNA from 102 individuals of nineteen pedigrees. The results showed that 67% of the patients (30/45) and 55% (29/53) of the maternal relatives have such a mutation, while no mutation exists in the four normal individuals. The results show that Wallace's mutation is a main cause of LHON in China.
authors.affiliation: Nanjing Railway Medical College.
authors.forename: L S
authors.initials: LS
authors.lastname: Zhang
authors.forename: Y
authors.initials: Y
authors.lastname: Huang
authors.forename: F Y
authors.initials: FY
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial