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Clinical significance of the rs4646994 polymorphism in the ACE gene
BÍCHOVÁ, Simona
The present bachelor thesis deals, as it is obvious from the title, with one particular polymorphism rs4646994 in the ACE gene and its clinical significance. The ACE gene, consisting of 26 exons, is localized on chromosome 17q23 and its name ACE stands for angiotensin converting enzyme. This enzyme is capable of breaking down proteins and is part of the renin-angiotensin system, which regulates blood pressure and fluid and salt balance in the body. The principle is to split a protein called angiotensin I into angiotensin II. This then causes the blood vessels to narrow (constrict), leading to an increase in blood pressure. This protein also stimulates the production of the hormone aldosterone, which triggers the absorption of salts and water by the kidneys. The increased amount of fluid in the body subsequently increases blood pressure. In addition, angiotensin II may also play a role in kidney development. The selected ACE rs4646994 polymorphism is of great interest in terms of various diseases (e.g. COVID-19, nephropathy in diabetes mellitus, polycystic ovary syndrome, etc.) It may also play an important role in Alzheimer's disease, which is the focus of the practical part of this bachelor thesis. The investigation of the rs4646994 polymorphism in the ACE gene was carried out in a selected group of 61 patients with a diagnosis of dementia by end-point PCR. The data obtained were then statistically processed and compared with a control group of patients without a diagnosis of dementia. The results were then compared with available scientific publications.
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Gene regulatory network inference based on mutual information in non-model organisms
Pirkl, Petr ; Sedlář, Karel (referee) ; Musilová, Jana (advisor)
The thesis is focused on summary of laboratory methods for determining gene expression, data preprocessing procedures and possible tools used to infere gene regulatory networks. Furthermore, the thesis handles with the pre-processing of data. It means create count table and normalize it. It was use data from the non-model organism Clostridium beijerinckii NRRL B-598. The main parts of the thesis are designed an algorithm for the creation of a gene regulatory network using mutual information and its implementation in the R language. This include testing the algorithm on data from the non-model organism and the gold standard.
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Genetic basis of phenotypic variability in domesticated animals
Majerová, Veronika ; Reifová, Radka (advisor) ; Komárek, Stanislav (referee)
Understanding the mechanisms responsible for the origin of morphological variability among different species of animals represents an important goal in evolutionary biology. Origin and changes of the phenotypic variability during the evolution is possible to study in domesticated animals. The domesticated species of animals represent a brilliant model for studying the molecular mechanisms responsible for origin of new phenotypes due to enormous morphological variability of different domesticated breeds, effortless breeding in captivity and frequent knowledge of the genomic sequence. The aim of this bachelor work is to summarize actual findings about concrete mutations which are responsible for the origination of the new morphological characters in the domesticated animals. These findings can help us to clarify how the evolution functions on the molecular level.
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The role of vent genes family in early development and brain development
Fabian, Peter ; Kozmík, Zbyněk (advisor) ; Němec, Pavel (referee) ; Balaštík, Martin (referee)
6 III ABSTRACT (ENGLISH) In chordates, the central nervous system (CNS) is derived from the dorsal part of gastrula. Induced dorsal part of the embryo - the neural plate - gives rise to the neural tube or primordial brain. The developing dorsal part of the embryo is shaped by BMP/Smad signaling from the ventral part. Using the basal chordate amphioxus, we show here the conserved evolutionary role BMP/Smad signaling in axial cell fate determination. Pharmalogical inhibition of BMP/Smad signaling induces dorsalization of Branchiostoma floridae (amphioxus) and Oryzias latipes (medaka) embryos and expansion of neural plate markers. We provide evidence for the presence of the positive regulatory loop within the BMP/Smad signaling network of amphioxus. Thus, our data suggest that early emergence of a positive feedback loop within the BMP/Smad signaling network may represent a crucial molecular event in the evolutionary history of the chordate cell fate determination. The dorso-ventral body axis formation is mediated by genes of the vent family, which are the direct targets of BMP/Smad signaling. The function of vent gene family in early development is relatively well known, however, its role in developing CNS is not yet clear. Therefore, we decided to manipulate vox transcription factor, a vent family member....
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Generation of conditional animal mutants to study gene function in vivo
Herrmannová, Pavlína ; Sedláček, Radislav (advisor) ; Novák, Josef (referee)
Conditional gene targeting allows spatial and temporal control of genetic modifications and is used to study gene functions in specific tissues or cell types. Gene targeting may lead to inactivation of the gene by insertions or deletions. Conditional gene targeting uses various methods for generation of transgenic mutant animals, such as technology of targeted disruption of gene using embryonic stem cells, methodology based on bacterial artificial chromosomes, or a new revolutionary technology of targeted disruption of genes using programmable nucleases, which is rapidly evolving and seems to be more efficient and cheaper method for conditional gene targeting. The aim of this work is to overview methods and technologies for generation conditional animal models, and overview conditional recombination systems with emphasis on inducible systems, and also provides a summary of the main international resources for rodent mutagenesis. Key words: transgenic animal model, gene, targeting, conditional allele
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The Influence of Specific Genes on Joint Hypermobility
Krýda, Tomáš ; Žatečka, Ladislav (advisor) ; Tomší, Adéla (referee)
This thesis is concerned with the influence of specific genes on the occurence of joint hypermobility. The main goal is to verify, whether the hypermobility test results differ among persons tested for the polymorphism of COL5A1, ACTN3, COL1A1 and GDF-5 gene with the respet to a particular genotype. The theoretical part of the thesis presented the specifics of sports genetics, general overview of the most important findings about hypermobilty, the manners in which it can be examined, its clinical features and also a detailed analysis of the role of the above stated genes, their association with health and performance attributes and their relation to hypermobility and range of motion. In the practical part, an examination of 15 probands (9 males and 6 females) at the age of 28,7 ± 5,6 years was conducted applying four scoring systems for measuring hypermobility. All probands were genetically tested by the PCR method. The statistical analysis was carried out by one-factor ANOVA. The statistical significance p < 0,05 wasn't reached with respect to any of the analysed genes. For SNP rs 12722 of COL5A1 gene, the average medians of the total hypermobilty score with respect to a particular genotype were 10,82 (CC), 7,30 (CT) and 10,99 (TT). For SNP rs 1815739 of ACTN3 the average medians of the total...
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Immunogenetic and hormonal markers of predisposition to systemic rheumatic diseases particularly systemic lupus erythematosus
Fojtíková, Markéta ; Pavelka, Karel (advisor) ; Hrnčíř, Zbyněk (referee) ; Rovenský, Jozef (referee)
Fojtikova 2011 INTRODUCTION: Several factors like genetic susceptibility is required for systemic rheumatic diseases development. Immunomodulatory PRL effect supports autoimmunity. AIMS: 1. To detect the immunogenetic background (alleles HLA class I, II and microsatellite polymorphism of the transmembrane part exon 5 of MIC-A gene) of SLE and PsA. 2. To detect PRL serum and synovial fluid with regard to clinical and laboratory RA activity. 3. To find the role of the functional polymorphism -1149G/T SNP PRL of extrapituitary promoter of PRL gene in SLE, RA, PsA, SSc and inflammatory myopathies development. METHODS: Genetic analyses of pateints with SLE (n=156), RA (n=173), PsA (n=100), SSc (n=75), PM (n=47) a DM (n=68) and 123 healthy individuals: PCR-SSP (HLA clase I and II), PCR-fragment analysis (MIC-A) a PCR-RFLP (-1149 G/T SNP PRL). In 29 RA a 26 OA PRL serum and synovial fluid concentrations were detected using immunoradiometric assay. RESULTS: 1. The allele HLA-DRB1*03 (pc=0.008; OR 2.5) and haplotype HLA-DRB1*03-DQB1*0201 (pc <0.001; OR 4.54) were determined as risk immunogenetic markers for SLE in Czech population. In SLE versus controls allele MIC-A5.1 was increased (pc =0.005; OR 1.88). MIC-A5.1 together with HLA-DRB1*03 increases the risk for SLE development, pc <0.000001; OR 9.71....
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Pregnancy proteins - molecular biological and biochemical analysis
Muravská, Alexandra ; Kalousová, Marta (advisor) ; Černá, Marie (referee) ; Průša, Richard (referee)
The aim of this thesis was to establish methods for selected PAPP-A (Pregnancy- Associated Plasma Protein A) gene polymorphisms analysis and to study genetic background of PAPP-A and biochemical background of PAPP-A and PlGF (Placental Growth Factor) in relation to risk pregnancy. Secondly, the aim was to establish method for two-dimensional (2D) electrophoresis of amniotic fluid. Methods for analysis of ten PAPP-A gene polymorphisms were established. These polymorphisms, PAPP-A and PlGF levels were studied in together 165 women in third trimester pregnancies complicated with threatening preterm labor (n=98), preeclampsia (n=35), IUGR (Intrauterine Growth Restriction) (n=34) and ICP (Intrahepatic Cholestasis of Pregnancy) (n=15). 114 healthy pregnant women served as controls. The method for 2D electrophoresis of amniotic fluid was established. Preeclamptic patients had significantly higher frequency of TT genotype of Cys327Cys (C/T) PAPP-A gene polymorphism compared to controls. Patients with ICP had increased serum levels of PAPP-A compared to controls, in patients with threatening preterm labor PAPP-A levels were rather decreased. PlGF levels did not differ from control group in patients with ICP and threatening preterm labor. Positive correlation was found between PAPP-A and PlGF in group of...
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Možnosti použití vybraných kvasinkových kmenů při výrobě nízkoalkoholického piva
Kovář, Pavel
In my bachelor thesis with the topic 'Possibilities of the use of chosen yeast strains in the production of low-alcoholic beer' I was mainly dealing with genetically modified yeast strains with a limited ability to produce ethanol. Furthermore, I described other methods of the production of low-alcoholic beer. The thesis includes information about the structure of the yeast cell and a description of metabolism, form the perspective of the most significant nutrients, and the production of ethanol. The propagation of yeast cultures and their storage were also mentioned. The ingredients needed for the produc-tion of beer with a focus on the characteristics important in the production of low-alcoholic beers.
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Evoluce genomů vlka a psa a jejich porovnání
Pazii, Oleksandra
The bachelor thesis deals with the study of the first and most common domesticated animal and its ancestors. The emphasis is put on the analysis of the current knowledge of the evolution of the gray wolf and the domestic dog genomes. Based on scientific publications are discussed origin, divergence, scenarios and influence of domestication on breeds. These are genetic fundamentals of phenotypic diversity, relationships between dog breeds, variations in morphology and behavior, and introgression between wolves and dogs. At the end of the thesis there are summarized several methods, used software and results from various molecular phylogenetic researches. A contemporary view of the evolution of all canines, molecular genetic research of the relationships between modern and origin species are key components for achieving the consensus about the place, time and reasons of diversification of dogs and wolves.
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