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

doi:10.1016/s0002-9394(14)73888-7

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Article

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

American journal of ophthalmology - 1 Feb 1995

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

Abstract excerpt

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 polymorp...

Topics

DNA
DNA, Mitochondrial
Electrophoresis, Agar Gel
False Positive Reactions
Genetic Carrier Screening
Humans
Molecular Biology
Mutation
Optic Atrophies, Hereditary
Polymorphism, Genetic
Risk Factors

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