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Analysis of the spectrum of genetic variants associated with development of Parkinson's disease
Stočesová, Lucie ; Hirschfeldová, Kateřina (advisor) ; Fajkusová, Lenka (referee)
Parkinson's disease (PD) is one of the most common neurodegenerative disease in humans. It affects all age categories and the number of patients with this disease is still growing. However, the genetic cause of PD is not yet very clear and new and new candidate genes are constantly being discovered. The aim of the thesis is to perform a mutation analysis in a group of patients and controls from the Czech population and thus find possible genetic causes of parkinsonism in a cohort of researched patients. The second aim is to evaluate data correlation obtained by different methods. Next generation sequencing was used for this purpose. The results of this sequencing were verified with methods such as MLPA (Multiplex Ligation-Dependent Probe Amplification), analysis of short tandem repeats and Sanger sequencing. Using these methods, we obtained a wide range of possible genetic causes of parkinsonism in the studied group of patients. Patogenic or risk variants were found not only in classical candidate genes typical for PD (called PARK), but also in genes associated with other neurodegenerative diseases. For less than half of the patients (42,64 %), the genetic cause of parkinsonism was not found. Using several methods, we found that next generation sequencing is a very precise method, that can well...
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