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Bc. Slavomíra Dlugošová

Bachelor's thesis

Molekulární diagnostika achondroplázie

The molecular diagnosis of achondroplasia
Abstract:
The bachelor thesis deals with achondroplasia and methods of molecular diagnostics, that can be applied in the genetic examination. In the theoretical part it comprehensively describes the disease, explains the signaling pathways involved in FGFR3 signaling and the principles of molecular methods in connection with the diagnosis of achondroplasia. The aim of this thesis was DNA isolation and its subsequent …more
Abstract:
Bakalárska práca sa venuje achondroplázii a metódam molekulárnej diagnostiky, ktoré možno aplikovať v rámci genetického vyšetrenia. V teoretickej časti komplexne opisuje ochorenie, vysvetľuje signálne dráhy uplatňujúce sa vo FGFR3 signalizácii a princípy molekulárnych metód v spojitosti s diagnostikou achondroplázie. Cieľom práce bola izolácia DNA a jej následná analýza využitím rtPCR. Na diagnostiku …more
 

Keywords

achondroplázia rtPCR molekulárna diagnostika FGF FGFR3 cffDNA mutácia achondroplasia molecular diagnosis mutation
 
Language used: Slovak
Date on which the thesis was submitted / produced: 29. 4. 2020
Identifier: https://is.muni.cz/th/ii0j5/

Thesis defence

  • Date of defence: 11. 6. 2020
  • Supervisor: RNDr. Iveta Valášková, Ph.D.
  • Reader: Mgr. Zuzana Bouchalíková

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Institution archiving the thesis and making it accessible: Masarykova univerzita, Lékařská fakulta
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Masaryk University

Faculty of Medicine

Bachelor programme / field:
Laboratory diagnostic in healthcare / Laboratory Assistant

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