Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy

Y. Mashima, Y. Hiida, M. Saga, Y. Oguchi, J. Kudoh, N. Shimizu

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)245-246
Number of pages2
JournalAmerican Journal of Ophthalmology
Volume119
Issue number2
DOIs
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Ophthalmology

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