NR 3-4/2003
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Powstawanie wad wrodzonych w przebiegu rozwoju
narządu wzroku.
Część II. Podłoże genetyczne okulogenezy a wrodzone wady rozwojowe
Formation of congenital defects in the course of
development of organ of vision.
Part II. Genetic background of oculogenesis and developmental birth defects
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: |
The course of oculogenesis is genetically controlled by
genes, that are selectively expressed in the developing eye. Many of them, first
recognized in studies on model animals, such as fruit fly (Drosophila melanogaster)
proved, that they play similar roles in humans. The crucial role in cascade of genetic
control of oculogenesis plays a system of genes PAX6 - EYA1/SIX3 - DACH1. In this work
there are described also other genes, that form a network of interactions and regulations,
such as: BMP4, BMP7, OPTX2, SOX1, PAX2, PITX2, PAX3, CHX10 and other genes. Describing
function of each gene, author presented simultaneously all known congenital defects and
syndromes, that are caused by mutations of above mentioned genes, such as: aniridia,
anophthalmia, Peters anomaly and others. |
| Słowa kluczowe: |
oko, wady wrodzone, genetyka. |
| Key words: |
eye, congenital defects, genetics. |
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