Journal of the Korean Ophthalmological Society 2003;44(8):1903-1907.
Published online August 1, 2003.
OPTN gene Mutation in Normal-Tension Glaucoma.
Do Hyun Jeong, Mi Rang Kim, Yeon Kyong Mun, Changwon Kee
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea. cwkee@smc.samsung.co.kr
정상안압 녹내장환자에서 OPTN 유전자의 돌연변이
정도현 ( Jeong Do Hyeon ) , 김미랑 ( Kim Mi Lang ) , 문연경 ( Mun Yeon Gyeong ) , 기창원 ( Gi Chang Won )
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.
Key Words: Normal Tension Glaucoma;OPTN gene;Point Mutation


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