title: [Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].
abstract: Several mutations of CYP1B1 gene, a member of cytochrome P450 gene family, have been associated with occurrence of primary congenital glaucoma. The aim of presented work was to investigate CYP1B1 gene exon III mutations in 72 unrelated Polish patients with primary congenital glaucoma (C), juvenile glaucoma (J) and juvenile glaucoma suspects (P). In one patient we have detected homozygous duplication of 10bp at nucleotide 8046 resulting in synthesis of truncated protein, first found among the polish population. Furthermore, sequence analysis revealed three distinct single nucleotide polymorphisms at nucleotides 8131 (C-->G), 8184 (C-->T) and 8195 (A-->G,) in examined populations. The haplotypes in homozygous state (C/C/A, C/C/G, and G/T/A) were present in 52.6% cases. Since it is suggested that the presence of these haplotypes may be linked to mutations in exon II of the CYP1B1 gene, we plan to analyze that exon in the future.
authors.affiliation: Katedry i Kliniki Okulistyki Dzieciecej Slaskiej Akademii Medycznej.
authors.forename: Bronisława
authors.initials: B
authors.lastname: Koraszewska-Matuszewska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Samochowiec-Donocik
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Zielińska
authors.forename: Piotr
authors.initials: P
authors.lastname: Kruszyński
authors.forename: Tomasz J
authors.initials: TJ
authors.lastname: Wasik
mesh_terms: D000293:Adolescent; D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases / Q000032:analysis*; D002648:Child; D002675:Child, Preschool; D065633:Cytochrome P-450 CYP1B1; D005091:Exons; D005260:Female; D020440:Gene Duplication; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011044:Poland; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1