CY­P1B1 exon III co­ding se­qu­en­ce ana­ly­sis in pri­ma­ry con­ge­ni­tal
and ju­ve­ni­le glau­co­ma in Po­lish pa­tients

Koraszewska-Matuszewska B, Samochowiec-Donocik E, Zielińska A, Kruszyński P, Wąsik T. CYP1B1 exon III coding sequence analysis in primary congenital
and juvenile glaucoma in Polish patients. Klinika Oczna / Acta Ophthalmologica Polonica Supplement. 2004.

APA

Koraszewska-Matuszewska, B., Samochowiec-Donocik, E., Zielińska, A., Kruszyński, P.,  & Wąsik, T. (2004). CYP1B1 exon III coding sequence analysis in primary congenital
and juvenile glaucoma in Polish patients. Klinika Oczna / Acta Ophthalmologica Polonica Supplement.

Chicago

Koraszewska-Matuszewska, Bronisława, Elżbieta Samochowiec-Donocik, Aleksandra Zielińska, Piotr Kruszyński,  and Tomasz J. Wąsik. 2004. "CYP1B1 exon III coding sequence analysis in primary congenital
and juvenile glaucoma in Polish patients". Klinika Oczna / Acta Ophthalmologica Polonica Supplement.

Harvard

Koraszewska-Matuszewska, B., Samochowiec-Donocik, E., Zielińska, A., Kruszyński, P.,  and Wąsik, T. (2004). CYP1B1 exon III coding sequence analysis in primary congenital
and juvenile glaucoma in Polish patients. Klinika Oczna / Acta Ophthalmologica Polonica Supplement.

MLA

Koraszewska-Matuszewska, Bronisława et al. "CYP1B1 exon III coding sequence analysis in primary congenital
and juvenile glaucoma in Polish patients." Klinika Oczna / Acta Ophthalmologica Polonica Supplement, 2004.

Vancouver

Koraszewska-Matuszewska B, Samochowiec-Donocik E, Zielińska A, Kruszyński P, Wąsik T. CYP1B1 exon III coding sequence analysis in primary congenital
and juvenile glaucoma in Polish patients. Klinika Oczna / Acta Ophthalmologica Polonica Supplement. 2004.

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.

keywords:

CY­P1B1 exon III co­ding se­qu­en­ce ana­ly­sis in pri­ma­ry con­ge­ni­tal and ju­ve­ni­le glau­co­ma in Po­lish pa­tients

Bronisława Koraszewska-Matuszewska 1 , Elżbieta Samochowiec-Donocik 1 , Aleksandra Zielińska 2 , Piotr Kru­szyń­ski 2 , Tomasz J. Wąsik 2

primary congenital glaucoma, juvenile glaucoma, mutations screening, CYP1B1 gene

CYP1B1 exon III coding sequence analysis in primary congenital and juvenile glaucoma in Polish patients

Bronisława Koraszewska-Matuszewska

¹

,

Elżbieta Samochowiec-Donocik

¹

,

Aleksandra Zielińska

²

,

Piotr Kruszyński

²

,

Tomasz J. Wąsik

²