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


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.
Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan.
Y
Y
Mashima
Y
Y
Hiida
M
M
Saga
Y
Y
Oguchi
J
J
Kudoh
N
N
Shimizu
D004247:DNA / Q000032:analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005189:False Positive Reactions; D006580:Genetic Carrier Screening; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D012307:Risk Factors
D004272:DNA, Mitochondrial; D004247:DNA