title: [The attempt to identify mutations in TIGR gene in Polish patients with primary open angle glaucoma].
abstract: OBJECTIVE
  The case work presents studies on the identification of the most frequent TIGR mutations in 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.
  
  
  METHODS
  Ophthalmologic examination was performed in twenty subjects with juvenile primary open angle glaucoma. The blood samples were taken for DNA analyses.
  
  
  RESULTS
  Neither any mutations nor polymorphic changes in TIGR gene were found.
  
  
  CONCLUSIONS
  Our studies have not identified any mutations in exon 3 of TIGR gene. We cannot exclude, however, that mutations are localised in other exons or regulatory region of examined gene. The questions how many genes, how many mutations of these genes and how often they contribute to glaucoma in general population are still open? These are important questions to answer in order to get closer to understanding extremely complicated aetiology of glaucoma.
authors.affiliation: Katedry i Kliniki Okulistyki II Wydziału Lekarskiego AM w Warszawie.
authors.forename: J
authors.initials: J
authors.lastname: Szaflik
authors.forename: A M
authors.initials: AM
authors.lastname: Ambroziak
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: M
authors.initials: M
authors.lastname: Gacek
authors.forename: C
authors.initials: C
authors.lastname: Zekanowski
authors.forename: A
authors.initials: A
authors.lastname: Sobczyńska
mesh_terms: D000293:Adolescent; D000328:Adult; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011044:Poland / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D005136:Eye Proteins; D006023:Glycoproteins
vernacular_title: Próba identyfikacji mutacji w genie TIGR w polskiej populacji chorych na jaskre pierwotna otwartego kata.