OPTN gene Mutation in Normal-Tension Glaucoma.
- Author:
Do Hyun JEONG
1
;
Mi Rang KIM
;
Yeon Kyong MUN
;
Changwon KEE
Author Information
1. Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea. cwkee@smc.samsung.co.kr
- Publication Type:Original Article
- Keywords:
Normal Tension Glaucoma;
OPTN gene;
Point Mutation
- MeSH:
Diagnosis;
DNA;
Exons;
Glaucoma*;
Humans;
Low Tension Glaucoma;
Point Mutation;
Polymerase Chain Reaction;
Sequence Analysis, DNA
- From:Journal of the Korean Ophthalmological Society
2003;44(8):1903-1907
- CountryRepublic of Korea
- Language:Korean
-
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.
