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Renal agenesis
Svobodová, Iveta ; Musil, Zdeněk (advisor) ; Merta, Miroslav (referee)
Renal agenesis is relatively common, genetically determined, disease. Genes which lead to its origin are still unconfirmed. Subject of this study was to perform molecular-genetic analyses of two genes, which are candidate for origin of renal agenesis in humans, genes coding tyrosine kinase receptor RET and neurotrophic factor GDNF. Mutation analysis of 20 exons of RET and 3 exons of GDNF in group of 20 patients with diagnosed unilateral renal agenesis has been done. Numeric changes were also investigated. The aim of this work was to identify potential mutation of RET and GDNF genes and contribute to their association with renal agenesis formation. No pathogenic mutation has been found in the group of patients, only three known single-point polymorphisms in RET gene have been detected. Polymorphism rs1800860 (GCG-GCA, Ala-Ala 432) is situated in exon 7 and has been found in 9 of total 20 patients, thereof in two cases in homozygous state. Polymorphism rs1800861 (CTT-CTG, Leu-Leu 769) is located in exon 13 and has been identified in 3 of 20 patients, thereof one patient was homozygote for minority allele G. Polymorphism rs1800863 (TCC-TCG; Ser- Ser) in 15. exon has been found in 5 patients, at any time in heterozygous state. All cases are about common polymorphisms with frequency of minority allele...
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Prepsration of recombinant cDNA of drug transporters
Svobodová, Iveta ; Štaud, František (advisor) ; Červený, Lukáš (referee)
CDS for ABCC4 and ABCC5 transporters were amplified. For ABCC5 two systems were outlined, however the only first one was used. The optimal annealing temperature was 64 řC; optimal concentration of magnesium was 2mM. TOPO XL have proved best results in our research in between cloning kits we tried. The CDS for ABCC4 and ABCC5 were cloned into the vector. Inserts were rended with the use of restrictive endonucleasis. ABCC4 was gashed by Spe I and Not I and ABCC5 by EcoR I and Hind III. With the same endonucleasis, the process of rending was repeated for pZeoSV2(-). Afterwards, the inserts were cloned into pZeoSV2(-).
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The effect of daunorubicine on expression of markers of nitrosative stress in rabbit model of anthracycline toxicity
Svobodová, Iveta ; Štaud, František (referee) ; Nachtigal, Petr (advisor)
The aim of this thesis was to evaluate possible changes of nitrotyrosine expression in rabbit aorta after repeated administration of daunorubicin. Chronic anthracycline cardiotoxicity was induced by repeated administration of daunorubicinu (3 mg/kg=50 mg/m2 i.v., 1x week) for the period of 10 weeks. We focused on the monitoring nitrotyrosine expression in rabbit aorta. Ten daunorubicin groups were compared with control rabbits. The animals were killed 24 hours and/or 7 days after the administration of daunorubicin. Immunohistochemical analysis showed no expression of nitrotyrosine in any control or experimental groups. In conclusion, the administration of daunorubicin did not induce nitrotyrosine expression in aorta in either control and daunorubicin treated rabbits, suggesting that endothelial dysfunction and/or nitrative stress in aorta is not triggered by daunorubicin treatment in vivo. 7
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