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Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy
1Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
American Journal of Ophthalmology
|February 1, 1995
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.