Genetické poruchy a vrodené vývojové chyby

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Presentation transcript:

Genetické poruchy a vrodené vývojové chyby

Definícia Genetické poruchy sú choroby spôsobené abnormalitami v génoch, alebo chromozómoch. Kým niektoré choroby (napr. Rakovina) bývajú zapríčinené aj genetickou výbavou pacienta, môžu byť vyvolané aj faktorom prostredia. Väčšina porúch je vzácnych a ovplyvňujú jednu osobu v niekoľkých tisícoch, alebo miliónoch.

Rozdelenie porúch a chorôb Choroby autozomálne recesivne dedičné Choroby autozomálne dominantne dedičné Choroby gonozomálne dedičné Globinové ochorenia Mitochondriálne dedičné choroby

Choroby autozomálne recesívne dedičné Patrí sem: Fenylketonuria, galaktosemie, cystická fibróza, leprechaunizmus, Friedreichová ataxia

Choroby autozomálne dominantne dedičné Familiárna hypercholesterolemia, syndaktýlia, polydaktýlia, brachydaktýlia, arachnodaktýlia, Huntingtnová chorea, Marfanov syndróm, leidenská mutácia, Osteogenesis imperfecta

Choroby gonozomálne dedičné Hemofília, daltonizmus, svalová dystrofia, syndrom fragilného chromozómu X, vitamin D chronická rachitis

Globínové ochorenia SCA (Sickle Cell Anemia), thasalémia

Mitochondriálne dedičné choroby Leberová atrofia optiku, syndróm mačacieho mňaukania

THE END