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Utilization of lactate during exercise in the context of genetic dispositions
Vostatková, Pavlína ; Petr, Miroslav (advisor) ; Heller, Jan (referee) ; Balkó, Štefan (referee)
Title: Utilization of lactate during exercise in the context of genetic dispositions Objectives: The aim of the dissertation is to investigate, within a group of athletes from speed- endurance disciplines, the influence of selected polymorphisms in genes encoding lactate transporters MCT1-4 on lactate levels before, during, and after Intermittent 30s Wingate Test. A sub-objective of the study is to identify differences in allele and genotype frequencies in the respective polymorphisms between the group of athletes and controls. Methods: The research group consisted of 91 Eastern European Caucasian men, members of the Czech Athletic Association with elite performance in the 400 m run (age 20.4 ± 3.2 years; body weight 74.07 ± 7.5 kg; height 182.7 ± 6.14 cm). A control group (n=100; age 20.5 ± 1.2; body mass 77.5 ± 9.47 kg; height 181.5 ± 6.35 cm) of physically active individuals who did not perform speed and strength sports was used for allele and genotype comparisons. For genotypic analysis of selected polymorphisms, buccal mucosa swabs were performed in the probands. DNA isolation and subsequent genetic analyses were performed in collaboration with the Józef Piłsudski University of Physical Education in Warsaw. The frequencies of individual alleles and genotypes were tested for compliance with...
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Variabilita genu MYOD1 ve vztahu ke kvalitě masa u prasat
Španihelová, Věra
This bachelor's thesis is dedicated to exploring the correlation between the MYOD1 gene and meat quality traits in pigs. The MYOD1 gene, which is a member of the MYOD gene family, is involved in muscle development during myogenesis. Therefore, mutations in this gene may affect meat quality. For the study 46 DNA samples of Czech Large White pigs were used, and genotypes were obtained using the PCR-RFLP method, which involved digestion of the PCR product using the DdeI restriction endonuclease. The frequencies of the genotypes were calculated, with the AA genotype representing 19,6 %, AB representing 47,8 %, and BB representing 32,6 %. The most frequent allele was B, which was represented in 56,5 % of the samples.Statistical analysis was performed using the SAS program. The results indicated that only the myoglobin content in 100 g of muscle was affected by the MYOD1 gene with a P ≤ 0,05 level of significance. Specifically, a statistically significant difference was observed between the AA and AB genotypes, with individuals carrying the AA genotype exhibiting significantly lower myoglobin content.
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Preparation and study of Alite
Jančíků, Andrea ; Gazdič, Dominik (referee) ; Dvořák, Karel (advisor)
The bachelor thesis deals with the preparation of the main clinker mineral tricalciumsilicate (Alitu-C3S), mostly theoretically and partially practically. The theoretical part summarizes the main findings of recent years of research of polymorphic phases of this mineral. The practical part is devoted to the preparation of polymorphic phase of M1 alite. The main objective was to prepare the monoclinic phase of M1 and analyze their properties by available analytical methods.
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Genetic factors in the etiology of sleep disorders
Dvořáková, Markéta ; Šolc, Roman (advisor) ; Červená, Kateřina (referee)
Sleep disorders are a group of disorders affecting a considerable part of proportion of the human population. Their aetiology is usually very complex and includes environmental and genetic factors. The nature of these disorders is often multifactorial. Sleep medicine and the field of synthesis of its findings with those of modern or classical genetics still offer quite a huge possibilities of research. However, despite many unresponsed questions, it is now possible to summarise the identified confirmed or suspected genes whose mutations are involved in the causes of these disorders. It is possible to estimate the heritability of certain disorders based on their multiple occurrence in families, presence in twins or prevalence in the population across different ethnics. This bachelor thesis focuses on genetic aspects in the etiology of sleep disorders, their heritability, the strength of the genetic component, and genetic links between some of the disorders.
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Karyotype evolution in estrildid finches of the genus Lonchura
Janáková, Šárka ; Reifová, Radka (advisor) ; Augstenová, Barbora (referee)
The karyotype, the set of all chromosomes in a cell, is an important characteristics of individual species of both animals and plants. The karyotype of birds is typically stable in terms of the number of chromosomes and their size, and rearrangements between different chromosomes are rare. The changes that occur between the karyotypes of avian species are more often intrachromosomal, such as inversions or duplications and deletions. It is still unclear how often such changes occur between closely related species and whether they can contribute to speciation. This work aims to compare the karyotypes of a total of five closely related species of songbirds of the genus Lonchura (munias and mannikins). Comparing chromosomal changes in such recently diverged species allows us to observe changes that might contribute to speciation. The study is based on karyotype analysis by immunofluorescence staining of synapsed pachytene chromosomes and subsequent identification and comparison of chromosome types. This method allows determination of the changes that are manifested by pericentric inversions where the position of the centromere is changed. The results confirm the general idea of avian karyotypes as very conservative in terms of chromosome number and their sizes. However, in some chromosomes we observed...
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Study of Alit structure and stability
Pernicová, Kateřina ; Všianský,, Dalibor (referee) ; Dvořák, Karel (advisor)
The diploma thesis deals with the laboratory preparation of the main clinker mineral alite. The theoretical part summarizes the main findings of recent research. The practical part is devoted to the preparation and optimization of the methodology for the preparation of alite polymorph. The main goal was to prepare monoclinic phases of M1 and M3 alites and analyze their properties by available analytical methods.
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Study of Belite Structure and Stability
Adameková, Paulína ; Kalivoda,, Karel (referee) ; Gazdič, Dominik (advisor)
This diploma thesis deals with the preparation of clinker mineral belite. The aim is to optimize the preparation of belite followed by monitoring the influence of side oxides, the preparation process and also the firing on the stability of ß - C2S. The work focuses primarily on the preparation of ß - C2S without stabilization, based on previous research in the field of clinker minerals at the ÚTHD, where the results showed a recovery method for preparation of raw material mixture and optimization of suggested firing modes.
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Examination of polymorphisms in the IFITM3 gene using sequences and their clinical significance for the course of viral diseases.
TROJÁKOVÁ, Simona
Interferon Induced Transmembrane Protein 3 is an anti-inflammatory cytokine that belongs to the group of interferon-stimulated genes. The topology of the IFITM3 gene was clarified by the analysis of electron paramagnetic and nuclear magnetic resonance. The protein encoded by this gene induces immunity against influenza A virus and other viral diseases. It also disturbs the homeostasis of intracelular cholesterol, inhibits the entry of viruses into the cytoplasm of the host cells and inactivates new enveloped viruses originating from an infected cell. IFITM proteins reduce virus replication by regulating the expression of viral protein and by reducing the infectivity of developing viruses. The analysis of the single-nucleotid polymorphisms in the IFITM3 gene is very significant to clarify the mechanism of the effect of the IFITM3 protein and its influence on the severity of the course of the viral diseases. The theoretical part deals with the description of Interferon Induced Transmembrane Proteins, particularly the description and function of the IFITM3 gene, including its polymorphisms. This gene is located on chromosome 11 and its size is approximately 18 Kb. The gene variability of the IFITM3 can fundamentally affect the course of influenza and other viral diseases. The practical part of the thesis focuses on the detection of polymorphisms rs12252, rs34481144 and rs1136853 in the IFITM3 gene using the PCR method and Sanger sequencing method. It was necessary to master some basic laboratory methods such as DNA isolation from primary samples, PCR method, preparation of the PCR product for sequencing, sequencing data analysis, processing of results and determination of specific genotypes in tested individuals.
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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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Analysis of STAT 6 gene polymorphism by PCR-RFLP method
VADLEJCHOVÁ, Markéta
This work deals with the issue of allergies, especially food allergies which have a negative impact on the overall quality of life and whose prevalence is constantly increasing in developed countries. Reactions to some food allergens can even be life-threatening. Such allergens include, for example, nuts and peanuts. The development of allergies is influenced not only by environmental factors, but also by the individual genetic makeup of a particular individual. A key regulator of allergic diseases is the human STAT6 gene that is located on chromosome 12. Many polymorphisms have already been identified in this gene, one of which is the G/A SNP at position 2964 located in the 3´-untranslated region (rs324015). To analyze this polymorphism, DNA samples were taken from a total of 25 people from the Czech Republic, 16 of whom suffered from nut or peanut allergies. DNA isolation was performed from these samples and followed by PCR-RFLP. Electrophoresis was then performed, and individual genotypes were determined. DNA sequencing was also performed from some isolates to confirm the results obtained using PCR-RFLP. Genotype A/A was found in 4 %, A/G in 56 % and G/G in 40 % of examined persons; the frequency of alleles was 0.32 for A and 0.68 for G. The frequency of allele G was higher in people who had no allergies to nuts and peanuts.
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