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Possible association of polymorphisms in COMT gene with mental diseases
TOMANOVÁ, Aneta
This thesis i focused on associacion of polymorphisms in COMT gene with mental diseases, primarily on polymorphism Val158Met. The theoretical part provides definitions of COMT gene and enzyme, catecholamines affected by COMT and definition of the polymorphism Val158Met. Next is listing of mental diseases, description and known connection with researched polymorphism. The practical part contains proceeding of PCR RFLP used to detect the genotype. The results were evaluated and connected to the theoretical part of the thesis.
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Analysis of hereditary genetic variants predisposing to the development of familial forms of ovarian cancer.
Lhotová, Klára ; Soukupová, Jana (advisor) ; Mohelníková Duchoňová, Beatrice (referee) ; Weinberger, Vít (referee)
Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates preventive management for carriers of mutations in OC-susceptibility genes. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified. We analyzed 219 genes in 1333 Czech OC patients and 2278 population-matched controls (PMC) using next-generation sequencing. Altogether, 427/1333 (32%) patients and 58 /2278 (2,5%) PMC carried pathogenic mutations in 18 known/anticipated OC predisposition genes. Mutations in BRCA1, BRCA2, RAD51C, RAD51D, BARD1 and mismatch repair genes conferred a high OC risk (with OR>5). Mutations in BRIP1 and NBN were associated with moderate risk (both OR ≥2 - <5). BRCA1/2 mutations dominated in almost all clinicopathological subgroups including sporadic borderline tumors of ovary (BTO). Analysis of remaining 201 genes revealed somatic mosaics in PPM1D and germline mutations in SHPRH and NAT1 associating with a high/moderate OC risk significantly; however, further studies are warranted to delineate their contribution to OC development in other populations. Results of this study demonstrate the high proportion...
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Identifying a genetic predisposition affecting sports performance, focusing on anaerobic activity of skeletal muscle activity
Balkó, Iva ; Kohlíková, Eva (advisor) ; Šimonek, Jaromír (referee) ; Zvonař, Martin (referee)
Title Identifying of genetic predisposition affecting sports performance focusing on anaerobic activity of skeletal muscle activity Problem Inborn predispositions of every individual are mainly influenced by the inherited genetic information in their DNA with the addition of external environmental factors. Based on the high variability of the inborn predictions in the form of phenotypic differences in the anatomy or physiology of an individual, it can be deduced on the connection between genetics and a specific sport talent. According to current scientific knowledge, anaerobic performance of the skeletal muscle tissue seems to be more genetically influenced. Anatomic and functional properties of the skeletal muscle are mainly influenced by genes, which have effect on the muscle fibre structure, blood storage, metabolism, neurotransmission, and muscle regeneration, etc. Fencing is a complex sport discipline where predispositions to speed and dynamic force play a key role. The sport performance in fencing, regardless of the type of weapon, is directly dependent on the interactions between the reaction of the fencer to the surrounding stimuli (visual, tactile), accuracy, tactical and technical skills, level of anticipation and overall physical a psychological readiness of the fencer. This work is...
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Analysis of hereditary genetic variants predisposing to the development of familial forms of ovarian cancer.
Lhotová, Klára ; Soukupová, Jana (advisor) ; Mohelníková Duchoňová, Beatrice (referee) ; Weinberger, Vít (referee)
Ovarian cancer (OC) is the deadliest gynecologic malignancy with a substantial proportion of hereditary cases and a frequent association with breast cancer (BC). Genetic testing facilitates preventive management for carriers of mutations in OC-susceptibility genes. However, the prevalence of germline mutations varies among populations and many rarely mutated OC predisposition genes remain to be identified. We analyzed 219 genes in 1333 Czech OC patients and 2278 population-matched controls (PMC) using next-generation sequencing. Altogether, 427/1333 (32%) patients and 58 /2278 (2,5%) PMC carried pathogenic mutations in 18 known/anticipated OC predisposition genes. Mutations in BRCA1, BRCA2, RAD51C, RAD51D, BARD1 and mismatch repair genes conferred a high OC risk (with OR>5). Mutations in BRIP1 and NBN were associated with moderate risk (both OR ≥2 - <5). BRCA1/2 mutations dominated in almost all clinicopathological subgroups including sporadic borderline tumors of ovary (BTO). Analysis of remaining 201 genes revealed somatic mosaics in PPM1D and germline mutations in SHPRH and NAT1 associating with a high/moderate OC risk significantly; however, further studies are warranted to delineate their contribution to OC development in other populations. Results of this study demonstrate the high proportion...
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Identifying a genetic predisposition affecting sports performance, focusing on anaerobic activity of skeletal muscle activity
Balkó, Iva ; Kohlíková, Eva (advisor) ; Šimonek, Jaromír (referee) ; Zvonař, Martin (referee)
Title Identifying of genetic predisposition affecting sports performance focusing on anaerobic activity of skeletal muscle activity Problem Inborn predispositions of every individual are mainly influenced by the inherited genetic information in their DNA with the addition of external environmental factors. Based on the high variability of the inborn predictions in the form of phenotypic differences in the anatomy or physiology of an individual, it can be deduced on the connection between genetics and a specific sport talent. According to current scientific knowledge, anaerobic performance of the skeletal muscle tissue seems to be more genetically influenced. Anatomic and functional properties of the skeletal muscle are mainly influenced by genes, which have effect on the muscle fibre structure, blood storage, metabolism, neurotransmission, and muscle regeneration, etc. Fencing is a complex sport discipline where predispositions to speed and dynamic force play a key role. The sport performance in fencing, regardless of the type of weapon, is directly dependent on the interactions between the reaction of the fencer to the surrounding stimuli (visual, tactile), accuracy, tactical and technical skills, level of anticipation and overall physical a psychological readiness of the fencer. This work is...
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Genetic determination of type 2 diabetes mellitus, analysis of selected genes - THADA, MAEA, JAZF1 and ARAP1
Procházková, Iveta ; Hubáček, Jaroslav (advisor) ; Kaňková, Kateřina (referee)
Introduction: Type 2 diabetes mellitus (T2DM) is a worldwide spread disease of affluence which prevalence has been growing. Although, the probability of its manifestation is being linked above all with environmental factors, genetic susceptibility plays an important role too. The aim of this thesis was to find out the association of four polymorphisms with the risk of T2DM manifestation in Czech population. Polymorphisms rs10203174 THADA, rs6819243 MAEA, rs849135 JAZF1 and rs1552224 ARAP1 (CENTD2) were chosen based on their risk in British population. Methodology: We studied groups of 712 Czech patients with T2DM and 752 healthy controls selected as a random sample of Czech population in the post-MONICA study. For a genotypisation rs10203174 and rs6819243 we used the PCR-RFLP method. For an analysis of genotypes rs849135 and rs1552224 was used the real-time PCR method. The results were analysed via odds ratio (OR) a chi-square test. Results: In case of the rs1552224 variant, the risk was proved with statistical significance (P = 0,01). The value of OR for the risk allele T is 1,37 (95% CI 1,07-1,75). In case of the polymorphisms rs10203174, rs6819243 and rs849135 no significant association with the disease was proved. For rs10203174 the value of OR of the allele C is 1,20 (95% CI 0,91-1,56, P = 0,20), OR of...
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Diabetes mellitus, environmental and genetic risk factors
Procházková, Iveta ; Hubáček, Jaroslav (advisor) ; Kovacs, Peter (referee)
Diabetes mellitus (DM) is globally widespread group of diseases characterised by increased blood glucose. There are several types, the most common is type 1 DM and type 2 DM. Multifactorial polygenic inheritance is typical for DM with exeption of couple monogenic forms. Type 1 DM is autoimmune form usually manifesting since childhood. Its manifestation is influenced mostly by HLA system genotype, but also by non-HLA genes together with environmental factors, amongst which nutrition of the children is predominant. Type 2 DM develops usually in adulthood. The development is influenced by obesity and lack of movement, but the individual sensitivity to type 2 DM is also genetically determined. Main genetic factors are variations in genes TCF7L2 and FTO as well as in genes coding cyclin dependent kinases.
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Genetic health disorders of cattle
NOVÁKOVÁ, Petra
The main aim is to summarize and describe the possibilities of improving genetic resistance of cattle against mastitis with the assistance of genetic selection. Effort to reveal all genetic mastitis parameters is difficult and long term researches of genes associated with mastitis are just in the beginning. The first part is devoted to a description of mastitis, which is one of the major health problems in the breed of dairy cattle and has many of negative impacts. Next are listed selected genes that scientists have so far managed to connect with the disease.
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