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Detection of mutation causing plycystic kidney disease
SLÁDKOVÁ, Nikola
In my bachelor's thesis, I dealt with the detection of the mutation in the PKD2 gene, which causes polycystic kidney disease. The disease is interesting because it is not only caused by a single specific mutation that affects a particular gene, but the disease is highly variable and can be caused by several mutations located on different chromosomes and even at different sites in a given exon. The subject of my research was a family of four. Based on the results of using clinical diagnostics, one member of the family was confirmed to have polycystic kidney disease. The aim of this thesis was to detect the possible PKD2 mutation in the family members, and thus to confirm the presence of polycystic kidney disease. The next aim was the optimization of the designed primers for the PCR reaction. In the theoretical section of this thesis, I focused on the issue of polycystic kidney disease, classification of polycystic kidney disease based on the inheritance type, and the protein products of the PKD2 and PKD1 genes. I also mentioned the anatomy of the kidneys, their function, and also the structure of a nephron. I also dealt with the health problems that accompany the disease, as well as its diagnostics and subsequent treatment. In the practical section of this thesis, I described the process of the laboratory diagnostics used to search for a mutation in the PKD2 gene, specifically in its first five exons. The diagnostics consisted of the DNA isolation, PCR reaction, gel electrophoresis, and subsequent Sanger sequencing. However, due to limited laboratory capacity, I did not personally perform the Sanger sequencing. The samples prepared for sequencing were sent to the SEQme company. In the end, I examined the electrophoreograms and the results from the obtained sequences. I had a total of 20 sequenced samples for the evaluation, always 4 samples for each exon. I was not able to prove the possible mutation in any of them. The remaining exons would also need to be examined for a complete diagnostics of the disease.
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Obotrite Proces of State-forming in Central European Dimension (789-1178)
Tomášek, Jan ; Žemlička, Josef (advisor) ; Klápště, Jan (referee)
Key Words Polabian Slavs, Polabian area, Obodrite, Populus, Gens, Nacio, State, Mecklenburg-Western Pomerania, Obotritic confederation tribes Abstract The thesis analyses and interprets the key events in the state-forming process of so-called Obotritic confederation tribes in 789 - 1178. It focuses on the analysis of written sources, which serve as a basis for three models of inter-tribal units in Polabian area. The thesis argues against the traditional evolutionistic point of view, which considers the confederation tribes to be the predecessors of early medieval states. The main focus of the analysis is put on the starting point form which the Obotritic state-forming process originated. The main question is whether the Obodrite, upon their first appearance in written history, were more federation of tribes or one large tribe, whose break-up at the turn of 9th and 10th century started a new phase of the process. For the next period, the thesis introduces unique model of so-called tribal state, created by the combined effects of various factors, such as location, political situation, social changes in 11th and 12th century etc. The inner and outer factors that lead to the break-up of the Obotritic tribe state in 1270s are discussed in the same manner. The last part of the thesis is an analysis of later...
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Obotrite Proces of State-forming in Central European Dimension (789-1178)
Tomášek, Jan ; Žemlička, Josef (advisor) ; Klápště, Jan (referee)
Key Words Polabian Slavs, Polabian area, Obodrite, Populus, Gens, Nacio, State, Mecklenburg-Western Pomerania, Obotritic confederation tribes Abstract The thesis analyses and interprets the key events in the state-forming process of so-called Obotritic confederation tribes in 789 - 1178. It focuses on the analysis of written sources, which serve as a basis for three models of inter-tribal units in Polabian area. The thesis argues against the traditional evolutionistic point of view, which considers the confederation tribes to be the predecessors of early medieval states. The main focus of the analysis is put on the starting point form which the Obotritic state-forming process originated. The main question is whether the Obodrite, upon their first appearance in written history, were more federation of tribes or one large tribe, whose break-up at the turn of 9th and 10th century started a new phase of the process. For the next period, the thesis introduces unique model of so-called tribal state, created by the combined effects of various factors, such as location, political situation, social changes in 11th and 12th century etc. The inner and outer factors that lead to the break-up of the Obotritic tribe state in 1270s are discussed in the same manner. The last part of the thesis is an analysis of later...
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