Genetické choroby

Kategorie: Biológia (celkem: 970 referátů a seminárek)

Informace o referátu:

  • Přidal/a: anonymous
  • Datum přidání: 12. března 2007
  • Zobrazeno: 8089×

Příbuzná témata



Genetické choroby

Genetické choroby


Základným cieľom humánnej genetiky je skúmanie a pochopenie príčin ľudskej variability, jej podstaty a rozsahu, jej pôvodu a prehrávania, jej distribúcie v rodinách a populáciach, jej interakcie s prostredím a jej vplyvu na normálny vývoj a funkciu organizmu. Humánna genetika má bezprostrednú súvislosť s klinickou medicínou. Prakticky každá choroba je výsledkom kombinácie faktorov genetickej stavby organizmu a vplyvu vonkajšieho prostredia. Pri niektorých chorobách je genetická zložka natoľko prevažujúca, že sa prejavuje v predvídatelnej forme aj bez mimoriadnych záťaží zo strany vonkajšieho prostredia. Tieto choroby sa označujú ako dedičné choroby.
Rozdelenie chorôb:
1. Monogénové choroby- sú zapríčinené defektom (mutáciou) jedného génu. Podľa spôsobu ich dedičnosti rozlišujeme autozómové-dominantné a autozómové-recesívne.
2. Chromozómové choroby- sú spôsobené vývinovým chaosom, keď celý chromozóm je navyše alebo chýba, čo ruší vyváženosť zdedených informácii.
3. Multifaktoriálne choroby- ide o kombináciu viacerých malých chýb, ktoré ak pôsobia spolu môžu zapríčiniť závažnú poruchu. Patria sem mnohé bežné choroby a vrodené vývojové chyby.
4. Vrodené malformácie alebo dismorfizmy- je to znetvorenie, vyskytujúce sa pri narodení. Pričom termín vrodený neznamená geneticky podmienenú etiológiu, ale ju ani nevylučuje.
Terapia dedičných ochorení je komplexnou úlohou a vyžaduje presnú diagnostiku choroby, poznanie a podstaty jej biochemickej alebo metabolickej abnormality a včasný zásah pred vznikom nenapravitelných patologických zmien.
Len pre malú časť z veľkého počtu genetických chorôb existuje efektívna terapia. Pri mnohých iných stavoch prichádzajú do úvahy postupy aspoň na zmiernenie klinických prejavov. Liečba musí byť uskutočnená na rôznych úrovniach:
1. klinického fenotypu
2. metabolických abnormalít
3. defektného génového produktu
4. mutantného génu
5. orgánov a tkanív (transplantácia)
Primárnou snahou klinickej genetiky je prevencia. Je to podmienené obmedzenými možnosťami konvenčnej liečby väčšiny genetických chorôb.

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