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

Y. Mashima, Y. Hiida, M. Saga, Y. Oguchi, Jun Kudo, N. Shimizu

Research output: Contribution to journalArticle

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
Publication statusPublished - 1995

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Leber's Hereditary Optic Atrophy
Molecular Biology
Nucleotides
Optic Atrophy
Diagnostic Errors
Mitochondrial DNA
Mutation

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Mashima, Y., Hiida, Y., Saga, M., Oguchi, Y., Kudo, J., & Shimizu, N. (1995). Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy. American Journal of Ophthalmology, 119(2), 245-246.

Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy. / Mashima, Y.; Hiida, Y.; Saga, M.; Oguchi, Y.; Kudo, Jun; Shimizu, N.

In: American Journal of Ophthalmology, Vol. 119, No. 2, 1995, p. 245-246.

Research output: Contribution to journalArticle

Mashima, Y, Hiida, Y, Saga, M, Oguchi, Y, Kudo, J & Shimizu, N 1995, 'Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy', American Journal of Ophthalmology, vol. 119, no. 2, pp. 245-246.
Mashima, Y. ; Hiida, Y. ; Saga, M. ; Oguchi, Y. ; Kudo, Jun ; Shimizu, N. / Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy. In: American Journal of Ophthalmology. 1995 ; Vol. 119, No. 2. pp. 245-246.
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