Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy.

Abstract excerpt

Twenty-eight patients from 25 maternal lineages with Leber's hereditary optic neuropathy (LHON) were investigated by restriction enzyme analysis for the presence or absence of the point mutation described by Wallace et al. The mutation was identified in 18 of 25 (72%) families with LHON. This provides further evidence that this mutation is present in the majority of patients with LHON. In 19 of these families...

Topics

• DNA, Mitochondrial
• Female
• Humans
• Male
• Mutation
• Nucleic Acid Hybridization
• Oligonucleotide Probes
• Optic Atrophies, Hereditary
• Polymerase Chain Reaction