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  • Title: Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy.
    Author: Mashima Y, Hiida Y, Saga M, Oguchi Y, Kudoh J, Shimizu N.
    Journal: Am J Ophthalmol; 1995 Feb; 119(2):245-6. PubMed ID: 7832241.
    Abstract:
    PURPOSE/METHODS: The most common pathogenic mitochondrial mutation at nucleotide 11778 in Leber's hereditary optic neuropathy is usually detected by the loss of an SfaNI restriction site. To evaluate a false-positive diagnostic error in this molecular genetic assay, we investigated SfaNI polymorphism in 120 patients with bilateral optic atrophy. RESULTS/CONCLUSIONS: The ratio of false-positive to true-positive results was 1:36. Mitochondrial DNA polymorphism at nucleotide 11779 reflects a false-positive genetic error.
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