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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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Analysis of the CYP 1A2 gene polymorphism and its clinical importance
KRŮČKOVÁ, Dominika
The bachelor thesis named Analysis of the CYP1A2 gene polymorphism and its clinical importance focuses on polymorphs in gene CYP1A2 and their benefits to pharmacogenetics. CYP1A2 gene is localized on chromosome 15, it spans around 7,8 kb. CYP1A2 codes one of the P450 cytochrome enzymes. Enzyme CYP1A2 is one of the most important enzymes participating in metabolism of variety of medicines, for instance antipsychotics or anaesthetics. Furthermore, CYP1A2 partakes in metabolism of procarcinogenic and carcinogenic substances and endogenous substances, for example melatonin or oestrogen. Polymorphs in gene partially cause different reactions to medicines. Non-genetic factors also contribute to interindividual variability, for example smoking or taking birth control pills.
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The effect of polymorphism of some enzymes on fatty acid composition in cow´s milk fat
SVOBODOVÁ, Martina
The aim of the diploma thesis was to determine the genotypes of polymorphic variants of some candidate loci in the AGPAT6 and LEP genes and to evaluate the influence of these polymorphic variants on milk yield and milk fatty acid proportions. Genotypic and allele frequencies of AGPAT6 and LEP were determined in dairy cows (n = 400) of the Czech Fleckvieh breed and its crossbreeds. The PCR / RFLP genotyping method was used. The results showed that the CT (AGPAT6) and MM (LEP) genotypes predominated in the population. The influence of AGPAT6 and LEP polymorphisms on milk yield indicators for the 1st and 2nd lactation could not be demonstrated. The influence of the AGPAT6 genotype on the representation of some short-chain fatty acids has been demonstrated. The effect of the LEP genotype on fatty acid proportions has not been demonstrated. The results of this work make it possible to obtain a more favorable composition of milk fat with respect to human health.
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SYNTHESIS AND DETERMINATION OF PROPERTIES OF PURE PHASES OF PORTLAND CLINKER AND THEIR POLYMORPHS
Ravaszová, Simona ; Keppert, Martin (referee) ; Reitermann, Pavel (referee) ; Palou, Martin (referee) ; Dvořák, Karel (advisor)
Quantitative diffraction analysis is currently carried out through Rietveld analysis, which is able to decode the various diffraction lines on a diffraction record, provided that the structural model for each clinker phase is well known. The subject of this dissertation is the laboratory preparation of pure phases of one triclinic and two monoclinic polymorphs of the main clinker mineral alite, which will serve as standards for the calibration of powder X-ray diffraction analysis. The result of this work will be detailed procedures for the preparation of individual polymorphs of alite and calibration relationships for unambiguous and easier identification of monoclinic polymorphs in real clinkers.
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Polymorphism of dicalcium silicate
Matysík, Robert ; Fridrichová, Marcela (referee) ; Gazdič, Dominik (advisor)
The presented bachelor thesis is focused on the study of the mineral belite, polymorphism of belite, its conditions of origin and stability of polymorphs. The theoretical part is focused on the composition of cement, its minerals, modifications and properties. Furthermore, the possibilities of stabilization of polymorphs, synthesis and microstructure of dicalcium silicate are presented in the given section. The practical part is a summary of current research results at FAST BUT, THD. Based on previous work, a research was proposed in which a change in the properties of dicalcium silicate from a pre-fired mixture was observed.
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Dynamic metabolomic prediction from genetic variation
Nemčeková, Petra ; Weckwerth, Wolfram (referee) ; Schwarzerová, Jana (advisor)
Hordeum vulgare, tak ako mnoho ďalších plodín, trpí redukovaním genetickej rôznorodosti spôsobeným klimatickými zmenami. Preto je potrebné zlepšiť účinnosť jeho kríženia. Oblasť záujmu sa v poslednej dobe obracia na výskum nepriamych selekčných metód založených na výpočetných predikčných modeloch. Táto práca sa zaoberá dynamickou metabolomickou predikciou založenou na genomických dátach, ktoré pozostávajú z 33,005 jednonukleotidových polymorfizmov. Metabolomické dáta zahŕňajú 128 metabolitov 25 rodín Halle exotického jačmeňa. Hlavným cieľom tejto práce je vytvoriť metabolomické predikcie dynamických dát pomocou rôznych metód, ktoré boli vybrané na základe rôznych publikácií. Vytvorené modely napomôžu predikcii fenotypu alebo odhaleniu dôležitých vlastností rastliny Hordeum vulgare.
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Cytogenetics of bed bugs (Cimicidae) as a model representative of true bugs (Heteroptera)
Sadílek, David ; Vilímová, Jitka (advisor) ; Johnson Pokorná, Martina (referee)
Cytogenetics of bed bugs (Cimicidae) as a model true bugs (Insecta: Heteroptera) The thesis provides current opinions about a phylogeny of bed bugs, family Cimicidae, and their classification within the order Heteroptera. There are briefly summarized cytological data about the order Heteroptera, known karyotypes of the cimicid subfamilies and introduction to cytogenetics of species Cimex lectularius Linnaeus, 1758. Heteroptera species differ from other organisms by holokinetic chromosomes, a character, in which quite frequently take place chromosomal fragmentation and fusion. Several families posses smaller pair of m chromosomes, which behave during meiosis differently from the other chromosomes. Diploid chromosomal number is extremely variable, it ranges from four (family Belostomatidae) to 80 chromosomes (family Miridae). The behavior of chromosomes in the family Cimicidae is very specific. Sex-chromosomes univalents are connected by thread-like collochores and form so-called pseudobivalents during achiasmatic post-reductional meiosis. Rare polymorphism in a number of X chromosomes occurs in Cimex lectularius populations. The diploid karyotype always consists of 26 autosomal chromosomes and at least two but up to 15 X chromosomes and one Y chromosome. The number of X chromosomes can be variable...
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The arity of NU polymorphisms
Draganov, Ondřej ; Barto, Libor (advisor) ; Růžička, Pavel (referee)
This paper deals with an arity of NU polymorphisms of relational structures. The goal is to simplify and clearly describe an already existing example of a relational structure, which has an NU polymorphism, but no NU polymorphisms of low arity in respect to arity of relations and to a number of elements in the relational structure. We explicitly describe m-ary relational structures with n elements, n ≥ 2, m ≥ 3, which have no NU polymorphisms of arity (m − 1)2n−2 , but have an NU polymorphism of arity (m − 1)2n−2 + 1, which is constructed in the paper, and binary relational structures with n elements, n ≥ 3, which have no NU polymorphisms of arity 22n−3 , but have an NU polymorphism of arity 22n−3 + 1.
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Evolutionary implications of innate immunity receptors polymorphism
Bainová, Zuzana ; Vinkler, Michal (advisor) ; Zajícová, Alena (referee)
Interactions between hosts and their parasites are considered to be one of the major forces driving animal evolution. It can be assumed that the evolutionary changes will occur especially in host molecules directly involved in these interactions. The first line of host defense is formed by innate immunity receptors among which also pattern recognition receptors (PRRs) belong. PRRs detect the presence of parasites at the beginning of their invasion by binding characteristic structures of their bodies (so called pathogen-associated molecular patterns, PAMPs, e. g. lipopolysaccharide, flagellin or peptidoglycans) or abnormal self molecules (damage-associated molecular patterns, DAMPs, e.g heat shock proteins). Although this mechanism of immune system activation is based on the recognition of ligands that are relatively evolutionarily conservative in pathogens, growing body of evidence suggests that PRRs are highly polymorphic on both interspecific and intraspecific level. High frequencies of minority alleles can be observed in most populations studied. It has been proven that particular alleles of many PRRs may associate with increased or decreased resistance to various infectious or autoimmunity diseases. Relationship between polymorphic receptor and a disease could be the main force, which shapes the...
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