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 |
| Publication status | Published - 1995 |
Fingerprint
ASJC Scopus subject areas
- Ophthalmology
Cite this
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 journal › Article
}
TY - JOUR
T1 - Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy
AU - Mashima, Y.
AU - Hiida, Y.
AU - Saga, M.
AU - Oguchi, Y.
AU - Kudo, Jun
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.
UR - http://www.scopus.com/inward/record.url?scp=0028836768&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028836768&partnerID=8YFLogxK
M3 - Article
C2 - 7832241
AN - SCOPUS:0028836768
VL - 119
SP - 245
EP - 246
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
SN - 0002-9394
IS - 2
ER -