advertisement
Abstract #15993 Published in IGR 2-3
To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open-angle glaucoma
Zhou Y; Jian Ge H; Guo YChinese Journal of Ophthalmology 2000; 36: 416
OBJECTIVE: To study trabecular meshwork induced glucocorticoid response protein (TIGR) gene mutation in Chinese patients with primary open-angle glaucoma (POAG). METHODS: From 70 patients with POAG and 20 normal controls, TIGR gene consisting of three exons (seven pairs of primer) was amplified by polymerase chain reaction (PCR). The mutation of PCR amplification products was evaluated by single-stranded conformation polymorphism (SSCP). Thereafter, PCR products were cloned into the PT-Adv vectors, the construction plasmids were evaluated by Ecor I endonuclease and direct sequence was performed. RESULTS: With SSCP screening, the single strand band abnormality was found in the middle fragments of the third exon (the sixth pair of primers) of TIGR in two patients with POAG, but the control group appeared normal. The two samples using clone and sequence showed that one had a 'GAT'- to-'AAT' transition at amino acid Asp 338 Asn mutation: the base sequence of another one had no change. These results suggested that the mutation rate of the TIGR gene in Chinese patients with POAG is only 1.4% (1/70), being lower than that of non-Chinese. CONCLUSIONS: The pathogenesis of Chinese patients with POAG may be related to TIGR gene mutation, but the mutation rate is lower than that in non-Chinese, indicating that the mechanism of POAG in China and abroad is different and that the pathogenesis of POAG is different regarding region and race.LA: Chinese
Dr. Y. Zhou, Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou 510060, China
Classification:
1.2 Population genetics (Part of: 1 General aspects)
