Analysis of TIGR Gene Mutation in Glaucoma.

Lee, Sun Joo; Hur, Won Hee; Kee, Changwon

Original Article

Journal of the Korean Ophthalmological Society 2000;41(5):1095-1101.
Published online May 1, 2000.

Analysis of TIGR Gene Mutation in Glaucoma.

Sun Joo Lee, Won Hee Hur, Changwon Kee

Department of Ophthalmology, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Korea.

녹내장 환자에서 TIGR 유전자 돌연변이 분석

이선주(Sun Joo Lee),허원희(Won Hee Hur),기창원(Chang Won Lee)

Abstract

In the present study, we have evaluated the mutations of the TIGR[Trabecular meshwork Inducible Glucocorticoid Response] gene, which has been reported to be associated with the glaucoma, in primary open angle glaucoma[POAG], normal tension glaucoma[NTG], and steroid-induced glaucoma[SIG]. We have analyzed the TIGR gene in 18 members of 3 families affected with POAG, 28 familially unrelated patients with POAG, 32 patients with NTG, 30 patients with SIG, and 45 normal subjects.DNA was extracted from the blood samples of each patient, exon 2 and exon 3 of the TIGR gene were amplified by PCR and DNA sequencing was performed.No mutation was found in familially unrelated patients with POAG.Two kinds of mutation[Ser341Pro, Gly367Arg]were found in 3 families affected with POAG.Another mutations, located in exon 3, were detected in one NTG patient and in one SIG patient, but they were silent substitution.Identification of TIGR gene mutation will provide early diagnosis of POAG before irreversible visual impairment develops in cases of positive family history of glaucoma.

Key Words: Glaucoma;TIGR gene;Mutation