|
|
Genetic study of obesity in children
Říhová, Aneta ; Daňková, Pavlína (advisor) ; Novota, Peter (referee)
Obesity is multifactorial dissease. Genetics factors participate in its origin of 40-70% (Barsh et al., 2000). Incidence of obesity is associated with a number of complications, which affect quality of life and abbreviate its length. It is projected in constantly younger age and its prevalence in the world grows. Even though several hundred genetics markers associated with obesity have been described, we still do not know all causes, which complicates efficiancy of treatment. Subject of this study was research of selected genes and their polymorphisms: FABP2 (rs1799883) and PLIN (rs1052700 and rs894160). The aim was to establish association between genotypes and antropometric and biochemical parameters related to obesity in group of 299 children and adolescents aged 7-18 years. Next goal was to establish whether these polymorphisms affect success of reduction therapy. SNP associations with antropometric and/or biochemical parameters were evaluated for boys and girls separately. Observed genotype frequencies between sex did not differ and they were in accordance with those explored in other populations. In rs1799883 polymorphism neither association with measured anthropometric and biochemical parameters nor effect on weight loss during reduction therapy have been found. The TT homozygote subjects of...
|
|
|
Molecular basis of endothelial sysfunction: endothelial nitric oxide synthase and heme oxygenase 1 genetic variations
Král, Aleš ; Martásek, Pavel (advisor) ; Baxová, Alice (referee) ; Schneider, Bohdan (referee)
Endothelial dysfunction is a pathologic state characterized by an altered equilibrium among vasodilatory and antithrombotic mediators and vasoconstrictive and prothrombotic mediators produced by the vascular endothelium. Multiple factors induce impaired production or increased consumption nitric oxide (NO), the key mediator of vascular homeostasis, produced by the nitric oxide synthase enzymes (NOS). Endothelial dysfunction represents one of the initial steps in the development of atherosclerosis, a chronic inflammatory disease of the vascular wall. The inducible enzyme heme oxygenase 1 (HO-1) represents one of the main cellular defense mechanisms against increased oxidative stress and decreased NO bioavailability accompanying endothelial dysfunction and atherosclerosis. We studied the genetic determinants of endothelial dysfunction and atherosclerosis by evaluating the association of the G894T endothelial NOS (eNOS) polymorphism and the HO-1 (GT)n promoter polymorphism with coronary artery atherosclerosis severity and risk profile and their evolution during hypolipidaemic treatment. In addition, we searched for genetic variations in exons 25 and 26 of eNOS gene, encoding the C-terminal part of the protein, deemed crucial for proper enzyme function and the 3'- untranslated region crucial for eNOS...
|
|
|
Geny zbarvení a jejich variabilita u laboratorních potkanů
Čermáková, Kristýna
I dealt with evolution of laboratory rat and its importance in scientific and researcher area in this work. Than I focused on genome, which is described here. Main purpose of this work was molecular characteristic of genes which affect coloring of rats. Colours are divided to the two main categories, first one are agouti colour and second one are non-agouti colours. ASIP (agouti signal peptide) affects coat colour of rat (if it will be agouti or not). So this is main gene in coat colour of rats area, I used this gen as example in testing of polymorphism.
|
|
|
Bioinformatic analysis of single nucleotide polymorphisms in the 1000 Genomes Project database
Parobková, Viktória ; Roy, Sudeep (referee) ; Provazník, Ivo (advisor)
Sekvenovanie celého ľudského genómu a nájdenie jeho variácii bolo výzvou počas mnohých rokov. Znalosť všetkých genetických variácií je pozoruhodne prospešná pri výskume chorôb. Táto práca je zameraná na genetické variácie človeka a ich dva hlavné výskumné projekty, The HapMap Project a The 1000 Genomes Project, ktoré pomohli v analýze chorôb. Prvá časť práce je venovaná teoretickému popisu projektov. V nasledujúcej časti práce sú popísané štruktúry databáz u oboch projektov a taktiež je predstavený online nástroj umožňujúci prehľadávanie a sťahovanie ich dát. Následne je prevedená štatistická, populačná a bioinformatická analýza štrukturálnych variácií produkovaných 3 fázou 1000 Genomes projektu.
|
|
| |
|
|
The impact of "dopamine genes" polymorphisms on novelty seeking behavior
Polgar, Martina ; Popkov, Alexandr (advisor) ; Čermáková, Pavla (referee)
This diploma thesis examines the linkage between -141C Ins/Del polymorphism in dopamine receptor D2 gene and novelty seeking behavior (NSB). Novelty seeking is a personality trait characterized as a tendency to seek out various, complex and intense sensations and experiences at the cost of physical, social, legal, and financial risk. It also appears to be related to the onset of young drug use and aggressive behavior. It has been suggested that there is a relatively high occupancy of dopamine receptors in the brain of individuals with this characteristic feature. Generally, dopamine receptors are extensively studied in relation to many psychiatric diseases or personality disorders. Although there are studies focusing on personality traits such as novelty seeking, subjects of their research are mainly dopamine receptors D1, D3 or D4. Very little is known about dopamine receptor D2 and its relation to NSB despite the fact, that DRD2 is the key negative regulator of dopamine action. Currently, determination of occupancy of dopamine D2 receptors in the brain is possible with positron emission tomography (PET). However, using PET in neuropsychological research is not always financially viable. To date, only few studies associated with PET and NSB vs D2 receptors occupancy have appeared in published...
|
|
|
Association of genetic polymorphism of oxidative stress with diabetes mellitus type 1 and 2
Kloboučková, Lucie ; Kotrbová - Kozak, Anna Katarzyna (advisor) ; Daňková, Pavlína (referee)
Diabetes mellitus is a chronic autoimmune disease in which the immune system attacks the insulin-secreting ß-cells in the pancreas. It leads to an absolute deficiency of insulin. Chronic hyperglycemia induces increased production of reactive oxygen species, which leads to a decrease of natural antioxidant level in blood, and it contributes to genesis of diabetes complications (e.g. vascular or pulmonic). Moreover, the oxidative stress results in onset of pancreas inflammations and the damage of its ß-cells. Aims: Our aim was to assess whether or not certain genotypes or their combinations occur with higher frequency among groups of patients of type 1 diabetes (T1D) and type 2 diabetes and in a control group of healthy individuals. Methods: The study included groups of 40 T1D patients, 40 T2D patients and 45 healthy individuals. The polymorphisms of genes involved in the oxidative stress response were analyzedby using RFLP, PCR with TaqMan probes and allele specific PCR. The target genes involved superoxide dismutase SOD1 and SOD3 genes; glutathione-S-transferase GSTM1, GSTT1, GSTP1 genes; glutathioneperoxidase gene GPX1 and catalase gene CAT. The levels of plasma malondialdehyde were measured by using liquid chromatography. Results: Statistically significant differences were found in the...
|
|
|
Molecular basis of endothelial sysfunction: endothelial nitric oxide synthase and heme oxygenase 1 genetic variations
Král, Aleš ; Martásek, Pavel (advisor) ; Baxová, Alice (referee) ; Schneider, Bohdan (referee)
Endothelial dysfunction is a pathologic state characterized by an altered equilibrium among vasodilatory and antithrombotic mediators and vasoconstrictive and prothrombotic mediators produced by the vascular endothelium. Multiple factors induce impaired production or increased consumption nitric oxide (NO), the key mediator of vascular homeostasis, produced by the nitric oxide synthase enzymes (NOS). Endothelial dysfunction represents one of the initial steps in the development of atherosclerosis, a chronic inflammatory disease of the vascular wall. The inducible enzyme heme oxygenase 1 (HO-1) represents one of the main cellular defense mechanisms against increased oxidative stress and decreased NO bioavailability accompanying endothelial dysfunction and atherosclerosis. We studied the genetic determinants of endothelial dysfunction and atherosclerosis by evaluating the association of the G894T endothelial NOS (eNOS) polymorphism and the HO-1 (GT)n promoter polymorphism with coronary artery atherosclerosis severity and risk profile and their evolution during hypolipidaemic treatment. In addition, we searched for genetic variations in exons 25 and 26 of eNOS gene, encoding the C-terminal part of the protein, deemed crucial for proper enzyme function and the 3'- untranslated region crucial for eNOS...
|
|
|
The prevalence of chosen polymorphisms of luteinizing hormone receptor gene in Czech population and patients with ovarian hyperstimulation syndrome
Chrudimská, Jana ; Macek, Milan (advisor) ; Schierová, Michaela (referee)
Ovarian hyperstimulation syndrome (OHSS) is an iatrogenic potentially life-threatening complication of assisted reproduction techniques (ART). It is caused by an increased sensitivity of ovaries to gonadotropins administered during the controlled ovarian hyperstimulation (COH). Thus, the degree of ovarian response can be gently tuned by genetic polymorphisms of gonadotropins and their receptors. The aim of this study is to ascertain the prevalence of polymorphisms Asn291Ser (rs1470652), Ser312Asn (rs2293275) and insLQ (insertion of leucine and glutamine, rs58356637) in the luteinizing hormone chorionic gonadotropin receptor (LHCGR) gene in 102 Czech fertile men, 149 fertile women and 58 patients with serious grade of OHSS. Detection of the Asn291Ser and Ser312Asn polymorphisms was performed using TaqMan SNP Genotyping Assays. The insLQ variation was detected by the capillary electrophoresis with fluorescence-labeled primers. This study ascertained the prevalence of studied variants in Czech fertile population. Obtained results are in concordance with the majority of data from other European populations. There is no difference in prevalence between control-men and control-women. No relation to the development of OHSS was disclosed. The number of analyzed samples is too small for haplotype analysis. These...
|
|
|
Relation of fruitfulness in reduction therapy of child obesity at samplet genetics polymophisms
Janoudová, Veronika ; Sedlak, Petr (advisor) ; Daňková, Pavlína (referee)
The aim of the thesis is to analyze the relationship of polymorphisms Ala54Thr FABP2 (protein binding long chain fatty acids in the enterocytes of the small intestine), Gln27Glu B2AR (lipolytic receptor in white adipose tissue) and A-3826G UCP1 (uncoupling protein in the inner membrane of mitochondria in brown adipose tissue) to pursued antropometric and biochemical markers and judge their impact on the success of reducing therapy on children. Association of observed polymorphisms with obesity has already been proven in other studies, the results are inconsistent and most studies have dealt with adults. The study includes of 335 individuals (216 girls and 119 boys) who completed a reduction stay in the Children's hospital of Dr. Filip in Poděbrady. The subjects were studied for anthropometric and biochemical markers at the beginning and at the end of reduction stay. Genetic analysis of polymorphisms were performed with use of PCR-RFLP. Girls Thr/Thr in polymorphism Ala54Thr FABP2 were showing greater thickness of skin fold on abdomen (p=0,009) and higher fat percentage in body composition (p=0,023). Significantly greater reductionof both these markers have been demonstrated (p=0.008, p=0.040). For boys the relationship was observed of homozygote Ala/Ala in a lower weight reduction (p=0,040). In...
|
guest ::
