OPTN gene Mutation in Normal-Tension Glaucoma
Journal of the Korean Ophthalmological Society
;
: 1903-1907, 2003.
Article
in Korean
| WPRIM
| ID: wpr-228203
ABSTRACT
PURPOSE:
We have evaluated the mutations of the OPTN gene, which has been reported to be associated with the normal tension glaucoma (NTG).METHODS:
The OPTN gene was analyzed in 53 patients with NTG and 40 normal subjects. Genomic DNA was extracted from the blood samples of each patients, exon 5 and exon 6 of the OPTN gene were amplified by PCR and DNA sequencing was performed.RESULTS:
No mutation was found in normal subjects. But three kinds of point mutation (G412A, C459T in exon 5, G577C in exon 6) were found in 7 patients with NTG.CONCLUSIONS:
We report the novel point mutations of OPTN gene in NTG patients. This shows the possibility of diagnosis of NTG by detecting the mutation of OPTN gene.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA
/
Glaucoma
/
Polymerase Chain Reaction
/
Exons
/
Sequence Analysis, DNA
/
Point Mutation
/
Diagnosis
/
Low Tension Glaucoma
Type of study:
Diagnostic study
Limits:
Humans
Language:
Korean
Journal:
Journal of the Korean Ophthalmological Society
Year:
2003
Type:
Article
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