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Vliv genových polymorfismů na efektivitu farmakologické léčby deprese
MÍČKOVÁ, Dana
The bachelor thesis deals with the possible influence of genetic polymorphisms of selected cytochrome P450 (CYP) genes on the depression or other psychiatric diseases treatment. The treatment of psychiatric patients with psychotropic drugs often turns out to be unsatisfactory due to lack of effectivity or due to adverse drug reactions of psychiatric drugs. This means both a mental strain for the patient and social and economic impacts. One of many influences, participating on the unsatisfactory treatment, are the CYP gene polymorphisms, that result in the same (CYP) named enzymes activity, responsible for the metabolism of the respective drug. Mutation in these genes can cause both gain-of-function and reduced or loss-of-function of the respective enzymes and thus participate on the adverse drug reactions and/or lack of effectivity. The aim of the theoretical part of the thesis was to develop research on the topic of depressive disease, its history and methods of treatment. Moreover, to map the antidepressants prescribing practice in the Czech Republic during the last five years. Other aims were developing of an internet questionnaire for patients and test their genetic polymorphisms in the genes CYP2C19 and CYP2D6 (by the real-time PCR method with the melting curve analysis). Finally, to compare these results (questionnaires and test results) with each other with the aim of finding out whether there is a clear link between the detected type of metabolism and the patient's evaluation of the treatment, an/or whether it is possible to give some recommendations regarding treatment for specific patients.
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Analysis of the G2964A polymorphism of the STAT6 gene by sequencing
KOTOVA, Valeriia
This bachelor's thesis deals with the polymorphism of the STAT6 gene, which was investigated by the sequencing method and the impact of this polymorphism on the occurrence of atopic diseases, mainly nut allergies. The STAT6 gene is located on chromosome 12 in humans at locus 12q13.3 and contains 23 exons. STAT6 was previously associated with total serum IgE levels and atopy in various populations. One of the most common polymorphisms in that gene is the SNP polymorphism G2964A, which is in the 3-untranslated region (rs324015). The theoretical part contains basic information about DNA sequencing, terms from allergology (including food allergies) and information about the investigated STAT6 gene. The practical part is focused on the detection of the rs324015 polymorphism in the examined group from 20 people of the Caucasian population.
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Some aspects of pathophysiology of pulmonary arterial hypertension and its epidemiology in the Czech Republic
Jansa, Pavel ; Aschermann, Michael (advisor) ; Widimský, Jiří (referee) ; Čerbák, Roman (referee)
1 Univerzita Karlova v Praze 1. lékařská fakulta Některé aspekty patofyziologie plicní arteriální hypertenze a její výskyt v České republice Some aspects of pathophysiology of pulmonary arterial hypertension and its epidemiology in the Czech Republic MUDr. Pavel Jansa Praha 2011 2 Abstract Pulmonary arterial hypertension (PAH) is a group of diseases characterized by a progressive increase of resistance and pressure in pulmonary vascular bed. In all types of PAH the same four pathological processes are reported: vasoconstriction, inflammation, thrombosis and remodelling. The genetic background is essential for the development of PAH. We aimed to investigate the role of polymorphisms of endothelial nitric oxide synthase (eNOS) genes in PAH. We studied 142 PAH patients and 189 healthy subjects. We examined 3 polymorphisms of the eNOS gene, including the Glu298Asp polymorphism, 27-base pair (bp) variable numbers of tandem repeats (VNTR) and -786 T/C promoter gene polymorphism. Prevalence of 27-bp VNTR allele A was higher in patients with PAH compared with healthy controls. Patients with PAH associated with connective tissue diseases had higher prevalence of AA genotype compared with other PAH subgroups. The Glu298Asp polymorphism and -786 T/C polymorphism are not associated with PAH. Thrombotic arteriopathy is...
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Th1/Th2 cytokine gene polymorphisms in patients with urine fibroid
Sosna, Ondřej ; Kužel, David (advisor) ; Živný, Jan (referee) ; Novotný, Zdeněk (referee)
Background: Uterine fibriod (UF) or leiomyoma is the most frequent benign tumour upon lower genital tract and represents the most frequent indication for hysterectomy. The aetiology remains still unknown. The genetic factors contributing for the development of UF are being intensively investigated. The aim of our study was to look for possible genetic markers which could be used as prognostic tools for evaluation of an increased risk for development of UF. Methods: The study group enrolled 102 patients diagnosed with UF and 145 healthy controls. Ultrasonographic examination of the pelvis was performed and a single blood sample was taken in all women. Histological verification followed the surgery in the patient group. The principal of the cytokine gene polymorphisms detection is based on PCR reaction with sequence-specific primers. Results: A large spectrum of Th1/Th2 cytokine gene polymorphisms in patients with uterine fibroid was compared with control group. The frequencies of the majority of tested cytokine gene SNP in the patient cohort were not statistically different from the cytokine SNP in the control group. However, an intriguing association between polymorphisms of the IL-4 gene promotor at positions -590 C/T and -33 C/T, and the risk of leiomyoma was observed. The CC genotype of IL-4 at position...
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Some aspects of pathophysiology of pulmonary arterial hypertension and its epidemiology in the Czech Republic
Jansa, Pavel ; Aschermann, Michael (advisor) ; Widimský, Jiří (referee) ; Čerbák, Roman (referee)
1 Univerzita Karlova v Praze 1. lékařská fakulta Některé aspekty patofyziologie plicní arteriální hypertenze a její výskyt v České republice Some aspects of pathophysiology of pulmonary arterial hypertension and its epidemiology in the Czech Republic MUDr. Pavel Jansa Praha 2011 2 Abstract Pulmonary arterial hypertension (PAH) is a group of diseases characterized by a progressive increase of resistance and pressure in pulmonary vascular bed. In all types of PAH the same four pathological processes are reported: vasoconstriction, inflammation, thrombosis and remodelling. The genetic background is essential for the development of PAH. We aimed to investigate the role of polymorphisms of endothelial nitric oxide synthase (eNOS) genes in PAH. We studied 142 PAH patients and 189 healthy subjects. We examined 3 polymorphisms of the eNOS gene, including the Glu298Asp polymorphism, 27-base pair (bp) variable numbers of tandem repeats (VNTR) and -786 T/C promoter gene polymorphism. Prevalence of 27-bp VNTR allele A was higher in patients with PAH compared with healthy controls. Patients with PAH associated with connective tissue diseases had higher prevalence of AA genotype compared with other PAH subgroups. The Glu298Asp polymorphism and -786 T/C polymorphism are not associated with PAH. Thrombotic arteriopathy is...
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Th1/Th2 cytokine gene polymorphisms in patients with urine fibroid
Sosna, Ondřej ; Kužel, David (advisor) ; Živný, Jan (referee) ; Novotný, Zdeněk (referee)
Background: Uterine fibriod (UF) or leiomyoma is the most frequent benign tumour upon lower genital tract and represents the most frequent indication for hysterectomy. The aetiology remains still unknown. The genetic factors contributing for the development of UF are being intensively investigated. The aim of our study was to look for possible genetic markers which could be used as prognostic tools for evaluation of an increased risk for development of UF. Methods: The study group enrolled 102 patients diagnosed with UF and 145 healthy controls. Ultrasonographic examination of the pelvis was performed and a single blood sample was taken in all women. Histological verification followed the surgery in the patient group. The principal of the cytokine gene polymorphisms detection is based on PCR reaction with sequence-specific primers. Results: A large spectrum of Th1/Th2 cytokine gene polymorphisms in patients with uterine fibroid was compared with control group. The frequencies of the majority of tested cytokine gene SNP in the patient cohort were not statistically different from the cytokine SNP in the control group. However, an intriguing association between polymorphisms of the IL-4 gene promotor at positions -590 C/T and -33 C/T, and the risk of leiomyoma was observed. The CC genotype of IL-4 at position...
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