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Abstract #5950 Published in IGR 2-2
An attempt to identify mutations in the TIGR gene in Polish patients with primary open-angle glaucoma
Szaflik J; Ambroziak AM; Bal J; Gacek M; Zekanowski C; Sobczynska AKlinika Oczna 2000; 102: 5-7
PURPOSE: Studies are presented on identification of the most frequent TIGR mutations in a Polish population with primary open-angle glaucoma. The TIGR gene was identified in a GLC1A locus on chromosome 1 (1q) in a family with juvenile primary open-angle glaucoma. The gene encodes TIGR protein (trabecular meshwork inducible gluco-corticoid response protein)-trabecular meshwork glucoprotein. MATERIAL AND METHODS: Ophthalmological examination was performed in 20 subjects with juvenile primary open-angle glaucoma. Blood samples were taken for DNA analyses. RESULTS: No mutations or polymorphic changes in the TIGR gene were found. CONCLUSIONS: These studies have not identified any mutations in exon 3 of TIGR gene. However, the authors cannot exclude that mutations are localized in other exons or regulatory regions of the examined gene. The questions of how many genes there are, how many mutations of these genes there are, and how often they contribute to glaucoma in the general population, are still open. These are important questions in order to come closer to understanding the extremely complicated etiology of glaucoma. LA: Polish
Dr. J. Szaflik, Katedry i Kliniki Okulistyki II Wydzialu Lekarskiego AM w Warszawie, Poland
Classification:
1.2 Population genetics (Part of: 1 General aspects)
