Ge J, Zhuo Y, Guo Y, Ming W, Yin W
Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-Sen University of Medical Sciences, Guangzhou 510060, China.
Chin Med J (Engl). 2000 Mar;113(3):195-7.
To investigate the genetic basis of the pathogenesis of a Guangzhou (GZ.1) pedigree with primary open-angle glaucoma (POAG).
DNA fragments of the trabecular meshwork inducible glucocorticoid response protein (TIGR) gene from 4 typical POAG patients and 2 normal subjects were amplified by polymerase chain reaction (PCR). The amplified PCR fragment was cloned into a pT-Adv vector, and direct sequencing was carried out on an ABI-373 automated DNA sequencer using dyeterminator chemistry to detect the mutation.
The TIGR gene mutation was identified in the selected subjects of this pedigree. This mutation is a "C-to-T" transition at position 370, different from that of western countries and equivalent to the position change found in Japanese patients with familial POAG. No mutation was found in the TIGR gene fragment in 2 normal subjects of the pedigree.
These preliminary results provide insights into the pathogenesis of POAG by the TIGR gene mutation, and into the underlying action of the different mutations in oriental and western peoples.
研究广州（GZ.1）原发性开角型青光眼（POAG）家系发病机制的遗传基础。
采用聚合酶链反应（PCR）扩增4例典型POAG患者及2例正常对照者小梁网诱导糖皮质激素反应蛋白（TIGR）基因的DNA片段。将扩增的PCR片段克隆至pT-Adv载体，利用双脱氧末端终止法在ABI-373型自动DNA测序仪上进行直接测序以检测突变。
在该家系的入选对象中鉴定出TIGR基因突变。此突变是第370位的“C到T”转换，与西方国家不同，等同于日本家族性POAG患者中发现的位置变化。在家系的2例正常对照者中未发现TIGR基因片段突变。
这些初步结果为TIGR基因突变导致POAG的发病机制以及东西方人群不同突变的潜在作用提供了见解。
