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Abstract #14498 Published in IGR 8-4

Screening and sequence analysis of TIGR gene mutation in patients with primary open angle glaucoma

Su Y; Wang F; Wang J-Q; Shan Y-C; Liu P; Chen J
Chinese Journal of Clinical Rehabilitation 2006; 10: 114-115


AIM: To study the gene mutation of trabecular meshwork induced glucocorticoid response protein (TIGR) in patients with primary open angle glaucoma (POAG). METHODS: The experiment was conducted in Harbin Medical University and Jinan University from January 2001 to December 2005. The polymerase chain reaction (PCR) was used to amplify the fragments of three exons in TIGR of 90 patients with POAG and 30 normal controls. The PCR amplification products of mutation was screened by single stranded conformation polymorphism (SSCP). The PCR amplification products were identified of the construction plasmids by EcorIendonuclease and the sequence was detected. RESULTS: 1 Single strand band abnormality was found in the middle fragments of the third exon (the sixth pair of primer) of TIGR gene in 5 patients with POAG with SSCP screening, while no abnormality was detected in other parts. Patients in the normal control group were normal. Three exons fragments of gene included 7 pairs of primer of all exons. 2 A 'GAT' to 'AAT' transition was found in the position of 388 codon in three samples that cloned and sequenced, and the amino acids was taken place by asparagine from aspartate, i.e., Asp 338 Asn. CONCLUSION: The pathogenesis of patients with POAG may be related with TIGR gene mutation. LA: Chinese

Dr. Y. Su, Department of Ophthalmology, First Clinical College, Harbin Medical University, Harbin 510632 Heilongjiang Province, China


Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)



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