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

共同利用研究室(遺伝子医学研究室)

研究成果: Article › 査読

12 被引用数 (Scopus)

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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.

本文言語	English
ページ（範囲）	245-246
ページ数	2
ジャーナル	American Journal of Ophthalmology
巻	119
号	2
DOI	https://doi.org/10.1016/S0002-9394(14)73888-7
出版ステータス	Published - 1995

ASJC Scopus subject areas

眼科学

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10.1016/S0002-9394(14)73888-7

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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",

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

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