Kee C, Ahn B H
Department of Ophthalmology, Samsung Medical Center, College of Medicine, Sung Kyun Kwan University, Seoul, Korea.
Korean J Ophthalmol. 1997 Dec;11(2):75-8. doi: 10.3341/kjo.1997.11.2.75.
To identify TIGR gene mutation in two Korean pedigrees of primary open-angle glaucoma (POAG), and in 25 steroid-induced glaucoma patients, TIGR gene assay was performed. Genomic DNA was extracted from peripheral blood and the TIGR gene was amplified by polymerase chain reaction (PCR). The PCR amplification products were evaluated by single-stranded conformation polymorphism and direct DNA sequencing. In POAG families, not only those patients clinically diagnosed as glaucoma, but also most of their siblings, in whom glaucoma had not yet been detected, had a proline-to-serine (TCC-to-CCC) mutation in codon 334. However, no steroid-induced glaucoma patients showed TIGR gene mutation. TIGR gene mutation, in familial POAG, was found in a different codon from that previously reported. The TIGR gene does not, however, seem to be related to steroid-induced glaucoma.
为了鉴定两个原发性开角型青光眼（POAG）韩国家系以及25例类固醇性青光眼患者中的TIGR基因突变情况，我们进行了TIGR基因检测。从外周血中提取基因组DNA，通过聚合酶链反应（PCR）扩增TIGR基因。PCR扩增产物通过单链构象多态性和直接DNA测序进行评估。在POAG家系中，不仅那些临床诊断为青光眼的患者，而且他们大多数尚未检测出青光眼的兄弟姐妹，在密码子334处都存在脯氨酸到丝氨酸（TCC到CCC）的突变。然而，没有类固醇性青光眼患者显示出TIGR基因突变。在家族性POAG中发现的TIGR基因突变与先前报道的密码子不同。然而，TIGR基因似乎与类固醇性青光眼无关。
