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Abstract #10034 Published in IGR 5-3
Study on the gene mutation of TIGR in primary open angle glaucoma, their relatives and normal controls in Chongqing
Li Z; He XChinese Journal of Ophthalmology 2003; 39: 457-461
OBJECTIVE: To study trabecular meshwork induced glucocorticoid response protein (TIGR) gene mutation in primary open angle glaucoma (POAG) patients, their relatives, and normal controls in Chongqing. METHODS: The coding sequence of TIGR was screened for sequence alterations using polymerase chain reaction (PCR) followed by single-strandconformation polymorphism (SSCP). Samples corresponding to bands of altered mobility were sequenced. The sequence alterations were analyzed by bioinformatics. RESULTS: In 15 POAG patients, TIGR gene mutation was found in five cases. In ten POAG relatives, two TIGR gene mutations were found. No TIGR mutation was found in 20 normal persons in Chongqing. The mutation sites Ser55Thr, Asp247Stop and 49021 c-t alteration discovered in the present study have not been reported previously. 63155 c-t alteration has previously been reported as a polymorphism site. Bioinformatics analysis indicated that the mutations in structural domain could lead to the changes in the amino acid sequence coded, second structure of protein, isoelectric point and antigen binding site. CONCLUSIONS: The authors found that the TIGR gene mutation is closely related to the occurrence of POAG in Chongqing. The relatives of POAG patients may have a higher incidence of TIGR gene mutation compared with controls. Furthermore, after analysis with bioinformatics, the authors found that the alteration of the structure and biological activity of TIGR protein resulting from gene mutation may be one of the important changes leading to the occurrence of POAG. LA: Chinese
Dr. X. He, Department of Ophthalmology, Research Institute of Surgery, Daping Hospital of the Third Military Medical University, Chongqing 400042, China. xiangge_he@hotmail.com
Classification:
1.2 Population genetics (Part of: 1 General aspects)