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NR 3/2004
SUPLEMENT
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Analiza sekwencji
koduj±cej eksonu III genu CYP1B1 w polskiej populacji pacjentów
chorych na jaskrę wrodzon± i młodzieńcz±
CYP1B1 exon III coding
sequence analysis in primary congenital and juvenile glaucoma in
Polish patients
Bronisława Koraszewska-Matuszewska1,
Elżbieta Samochowiec-Donocik1, Aleksandra Zielińska2,
Piotr Kruszyński2, Tomasz J. W±sik2
1Z Katedry i Kliniki Okulistyki Dziecięcej ¦l±skiej
Akademii Medycznej
Kierownik: prof. dr hab. n. med. Bronisława
Koraszewska-Matuszewska
2Z Zakładu Wirusologii ¦l±skiej Akademii Medycznej
Kierownik: dr n. biol. Tomasz J. W±sik |
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| Summary: |
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. |
| Słowa kluczowe: |
pierwotna jaskra wrodzona,
jaskra młodzieńcza, badanie mutacji, gen CYP1B1. |
| Key words: |
primary congenital
glaucoma, juvenile glaucoma, mutations screening, CYP1B1
gene. |
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