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NR 4-5/2004
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Podłoże genetyczne
pierwotnej jaskry otwartego kąta
Genetic ground of primary
open angle glaucoma
Maciej R. Krawczyński
Z Pracowni Poradnictwa Genetycznego w Chorobach Narządu Wzroku
Katedry i Zakładu Genetyki Medycznej Akademii Medycznej w
Poznaniu
Kierownik: prof. dr hab. n. med. Anna Latos-Bieleńska |
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| Summary: |
Among basic risk factors
for primary open-angle glaucoma (POAG), the leading
place takes positive family history. It is generally
accepted that this type of glaucoma presents
multifactored determination, however pedigrees that
follow autosomal dominant way of inheritance are also
described. Genetic studies made by linkage analysis
enabled to map six loci, linked to development of
primary open-angle glaucoma: GLC1A – in 1q21-q31 region,
GLC1B – in 2cen-q13 region, GLC1C – in 3q14-q24 region,
GLC1D – in 8q23 region, GLC1E – in 10p15-p14 region and
GLC1F – in 7q35-q36 region. During last years, in GLC1A
locus the TIGR gene that codes for myocilin was cloned
and in GLC1E locus the OPTN gene that codes for
optineurin was cloned. It was also proved that their
mutations are responsible for development of several
forms of POAG. Simultaneously it was shown that there
are some additional modifier genes, such as CYP1B1 gene,
mapped in 2p22-p21 region and coding one of the
cytochrome P450 polypeptide, what indicates a
possibility of digenic inheritance of POAG. |
| Słowa kluczowe: |
jaskra pierwotna otwartego
kąta, genetyka, miocylina, optineuryna. |
| Key words: |
primary open angle
glaucoma, genetics, myocilin, optineurin. |
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