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Molecular Genetic Diagnostics of Pediatric high-grade Gliomas
KALENDOVÁ, Tereza
Pediatric high-grade gliomas (HGG) represent a serious disease with high morbidity and mortality rates in children. Genetic diagnostics are becoming a key tool for better understanding the pathogenesis of these tumors and improving their clinical management. This bachelor's thesis focuses on the molecular genetic diagnosis of HGG in pediatric patients. The thesis begins with an overview of pediatric HGG and the importance of a molecular genetic approach to their study. It then evaluates current molecular genetic techniques in the diagnosis of HGG, primarily focusing on the analysis of specific gene mutations. Furthermore, the thesis addresses methods of sample collection, data analysis, and interpretation of results. Emphasis is placed on the potential of molecular genetic diagnostics for predicting prognosis, selecting appropriate therapeutic strategies, and monitoring patients post-treatment. Finally, challenges and future directions in the field of molecular genetic diagnostics of HGG in pediatric patients are discussed. This work provides a comprehensive view of the significance of molecular genetics in the diagnosis and management of HGG in children and contributes to the development of new approaches to treating this serious disease.
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Detekce variability DNA ve vybrané kolekci ostropestřce mariánského (Silybum marianum L.)
Kratochvílová, Tereza
Milk thistle (Silybum marianum L.) is a promising crop with a wide range of practical applications. It is the only source of the flavonolignan silymarin, which has a positive impact on the health of both humans and animals. Although it is particularly significant as a medicinal plant due to its beneficial effect on liver parenchyma, its genetic diversity has not been thoroughly explored. The study of variability is fundamental for optimizing agricultural production of this crop, clarifying correlations between genome architecture and flavonolignan content, breeding, or categorizing gene sources. This study evaluates the variability of a selected collection of milk thistle using iPBS primers and sequencing analysis of trnC-F and psbA-trnH regions in cpDNA. Knowledge of these sequences can be further utilized, for example, in phylogenetic analyses, diversity studies, and hybridization methods. The study of genetic variability at the molecular level provides important insights for the ideal cultivation or breeding of milk thistle.
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Molecular genetic analysis in Niemann-Pick type C disease
Marešová, Ivona ; Dvořáková, Lenka (advisor) ; Hřebíček, Martin (referee)
Niemann-Pick disease type C (NPC) is a rare, severe disease with autosomal recessive inheritance. Disease is caused by pathogenic mutations located in genes NPC1/NPC2. These genes encode lysosomal non enzymatic NPC1/NPC2 proteins that are part of lipid transport. As a result of malfunction of these proteins intracellular accumulation of lipids occurs, in particular free cholesterol and glycolipids. Causal therapy is currently still unsatisfactory therefore new therapies are evolved. However these therapies depend on whether the patient cells contain at least residual amount of transcript NPC1 gene. In a group of patiens, for which a fibroblast culture was available, I analyzed the effect of pathogenic mutations on the expression level of the transcript. Results showed that for all pathogenic mutations transcript level is low, but detectable. Moreover, I characterized the structure of the NPC1 gene promoter. By sequence analysis I found polymorphisms rs8099071, rs28403610, rs2981422, rs1652354, rs1788774, rs1788772 in promoter. On the basis of the composition of polymorphisms in individual patiens, I estimate six different haplotypes. I performed mutation analysis in DNA of recently diagnosed patient. I found only one pathogenic mutation p.I1061T (c.3182T> C) in the NPC1 gene. Therefore I tested...
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Molecular genetic analysis in Niemann-Pick type C disease
Marešová, Ivona ; Dvořáková, Lenka (advisor) ; Hřebíček, Martin (referee)
Niemann-Pick disease type C (NPC) is a rare, severe disease with autosomal recessive inheritance. Disease is caused by pathogenic mutations located in genes NPC1/NPC2. These genes encode lysosomal non enzymatic NPC1/NPC2 proteins that are part of lipid transport. As a result of malfunction of these proteins intracellular accumulation of lipids occurs, in particular free cholesterol and glycolipids. Causal therapy is currently still unsatisfactory therefore new therapies are evolved. However these therapies depend on whether the patient cells contain at least residual amount of transcript NPC1 gene. In a group of patiens, for which a fibroblast culture was available, I analyzed the effect of pathogenic mutations on the expression level of the transcript. Results showed that for all pathogenic mutations transcript level is low, but detectable. Moreover, I characterized the structure of the NPC1 gene promoter. By sequence analysis I found polymorphisms rs8099071, rs28403610, rs2981422, rs1652354, rs1788774, rs1788772 in promoter. On the basis of the composition of polymorphisms in individual patiens, I estimate six different haplotypes. I performed mutation analysis in DNA of recently diagnosed patient. I found only one pathogenic mutation p.I1061T (c.3182T> C) in the NPC1 gene. Therefore I tested...
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