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

doi:10.1016/S0002-9394(14)73888-7

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

Collaborative Research Resources (Laboratory of Gene Medicine)

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	245-246
Number of pages	2
Journal	American Journal of Ophthalmology
Volume	119
Issue number	2
DOIs	https://doi.org/10.1016/S0002-9394(14)73888-7
Publication status	Published - 1995

ASJC Scopus subject areas

Ophthalmology

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title = "Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy",

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.",

author = "Y. Mashima and Y. Hiida and M. Saga and Y. Oguchi and J. Kudoh and N. Shimizu",

year = "1995",

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AU - Mashima, Y.

AU - Hiida, Y.

AU - Saga, M.

AU - Oguchi, Y.

AU - Kudoh, J.

AU - Shimizu, N.

PY - 1995

Y1 - 1995

N2 - 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.

AB - 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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