National Repository of Grey Literature 45 records found  beginprevious16 - 25nextend  jump to record: Search took 0.01 seconds. 
The impact of geography and subsistence on distribution of NRY haplogroups in Europe and Africa
Nováčková, Jana ; Černý, Viktor (advisor) ; Munclinger, Pavel (referee) ; Macholán, Miloš (referee)
Y chromosome is due to its special characteristics the ideal tool of archaeogenetic studies. Its diversity is influenced by several factors and I analysed two of them (geographical location and subsistence). I generated SNPs and STRs data from several loci of samples from Slovakia (156 samples, 5 regions) and sub-Saharan Africa, where I analysed samples of sedentary farmers (481 samples, 18 regions) and nomadic pastorals (405 samples, 16 regions). Slovakia is situated at the meeting point of two migration ways. First of them was spread from the east to the west and is associated with enlargement of haplogroup R1a in Europe. The second came from the Iberian Peninsula eastward and is associated with enlargement of haplogroup R1b. Results of MDS graphs replicate the geographical map of Europe. Slovakia is situated in the middle of Russian, Balkanian and Iberian samples. Correlation between genetics and geographic distances is indicated by hierarchical AMOVA analysis and Mantel tests. Populations in sub-Saharan Africa differ from each other by the subsistence pattern. Different life style influence the diversity of the Y chromosome. Nomadic pastoralists and sedentary farmers share different haplogroups, for example, while haplogroup R1b was detected only in nomadic pastoral groups, sedentary farmers...
Implemenation of the RAD sequencing methods to the population genetic studies of hedgehogs from the genus Erinaceus
Loudová, Miroslava ; Černá Bolfíková, Barbora (advisor) ; Choleva, Lukáš (referee)
Hedgehogs from the genus Erinaceus are an important model organism for studying the postglacial recolonisation of Europe and the processes that take place in the secondary contact zones of their areas of distribution. In this study, five individuals of white-breasted hedgehog (Erinaceus roumanicus), four individuals of western hedgehog (Erinaceus europaeus) and one estimated hybrid were analysed. Geographical distribution of individuals used in the study covers the region of the Central Europe, however in the further research expansion of analsysed individuals will be needed and the whole Palearct should be sampled. The main goal was to implement novel methods in research of hedgehogs, which will enable to map the population-genomic structure of the genus Erinaceus in western Palearct. The method RADSeq (Restriction site associated DNA sequencing) enables to obtain polymorphic markers, e.g., SNPs which we used (Single Nucleotide Polymorphisms) across the genome. In this work it was analyzed 16382 SNPs. Using the binary data which indicates the presence and absence of SNPs for each species, hypotheses raised under classical analyzes of genetic markers from previous studies have not been fully confirmed. In further research it will be necessary to verify possible occurrence of biases connected with...
Nový polymorfizmus genu apolipoprotein A2 a jeho asociace s obsahem mastných kyselin u prasat
Sukhov, Oleg
This thesis studies the problematic of the new polymorphism APOA2 gene and that association with fatty acids contain in a group of Czech Large White pigs. APOA2 gene (ID: 100153243) is a candidate gene for porcine meat quality. The aim of thesis was to analyze the influence of selected polymorphisms on fatty acids and intramuscular fat contain. Among fatty acids was observed a contain of: tetradecenoic acid, palmitic acid, palmitoleic acid, stearic acid, oleic acid, linoleic acid, linolenic acid, arachidonic acid, arachidic acid a eicosapentaenoic acid (EPA). Have been used molecular-genetic methods such as primers design in the OLIGO software, PCR, gel electrophoresis a sequencing by Sanger method. The results were processed by form of genotype frequency and followed by associative analysis with a mixed linear model. The values of the relative alleles frequency of polymorphism APOA2 T>A rs80803879 were as follows: A = 0,086, T = 0,914 and relative alleles frequency of APOA2 G>A rs331415849: A = 0,068 a G = 0,948. Polymorphism associations were found for fatty acids: myristoleic acid, acid palmitoleic acid, oleic acid, arachidonic acid, and arachidic acid.
Genetic variability in sporadic colorectal cancer: Searching for novel risk, prognostic and predictive biomarkers.
Jirásková, Kateřina ; Vodička, Pavel (advisor) ; Machoň, Ondřej (referee) ; Eckschlager, Tomáš (referee)
Colorectal cancer (CRC) is a major public health problem worldwide. Despite improvements in the diagnostic process and advancement in the treatment methods, the prognosis remains poor. To improve survival rates, it is important to identify people with the predisposition for CRC and to detect the potentially curable early stage of the disease. Furthermore, identifying those who would have an adverse clinical outcome associated with a particular chemotherapy would help to avoid redundant chemotherapy burden in patients and contribute to enhanced therapeutic efficacy, while minimizing treatment-related toxicity. The aim of the Thesis was to search for novel promising diagnostic, prognostic and predictive DNA-based biomarkers of sporadic form of CRC. As each patient is genetically unique, these biomarkers would aid clinicians in better diagnosis and/or in the selection of an optimal type of therapy for an individual CRC patient based on their molecular profile. In order to explore this issue, we investigated several candidate genes in healthy individuals as well as in newly diagnosed cancer patients. The major outcomes of this PhD study, which were fully reported in seven publications included in the present Thesis, are 1) The observation of several candidate single nucleotide polymorphisms in microRNA...
Maedi visna - genetic aspects of susceptibility/resistance in sheep
ŠTOIDL, Petr
The aim of this research is to evaluate the rate of correlation between Maedi-visna sheep disease and the polymorphism on 35th position of the gen for TMEM154 transmembrane protein. The incidence of Maedi-visna disease was evaluated using serological ELISA method at the State Veterinary Institute Jihlava, and for TMEM154 gene polymorphism detection, molecular PCR method was used. This research proves correlation between Maedi-visna sheep disease and the gene polymorphism for TMEM154 transmembrane protein. The main contribution of this research is the possibility to eradicate Maedi-visna virus by eliminating sheep with less resistant genotype.
Rezistence genes against fungi deseases in cereals and methods for their detection
Stuchlíková, Šárka ; Dumalasová, Veronika (advisor) ; Schwarzerová, Kateřina (referee)
The paper deals with the possibilities of detection fungal disease resistance genes in the original European cereals, such as wheat, barley, rye and oats. It provides an overview of the most important resistance genes for breeding. The significance of the resistance genes is evaluated on the basis of the harmfulness of the individual cereal fungal diseases, as well as the importance of the individual cereal species. It describes the possibilities of detecting resistance genes using molecular markers and compares various types of molecular markers. It seeks answers to the question of where the breeding on resistance and therefore the use of molecular markers brings the greatest benefit.
Genetic determination and heredity of craniofacial traits based on specific DNA loci
Králíková, Kristýna ; Daňková, Pavlína (advisor) ; Šimková, Halina (referee)
Introduction: Genetic determination of human face is clearly visible in family members. The resemblance between monozygotic twins who are genetically identical is especially remarkable. So far the possibilities of reliable prediction of the complex morphology of facial traits on the basis of genome analysis and the ability to capture the variability of human facial morphology through genotype variability are highly limited. Complete genetic basis of the physiological variability of craniofacial traits remains more or less unknown. This master's thesis was created as a pilot study of the shared project of the Laboratory of 3D Imagining and Analytical Methods and the Laboratory of Molecular Anthropology on Department of Anthropology and Human Genetics. Material and Methods: The specimen collection is composed of DNA samples derived from 30 families (29 with 4 members, 1 with 5 members) who fulfilled required criteria. Nine single nucleotide polymorphisms were chosen based on the available information. Eight of them are linked to normal facial variability and one was chosen based on the assumed function of the gene where the polymorphism is located. There were two methods of genotyping: RFLP method with the use of restriction endonuclease and SNaPshot method. Morphological data were provided by the...
Molekulární diagnostika deficience lipoproteinové lipásy (LPLD) jako výběr pacientů vhodných pro genovou terapii (AAV1-LPL S447X )
Křížová, Jana
Lipoprotein lipase deficiency is a malfunkction of a key enzyme for lipoprotein metabolism. Lipoprotein lipase deficiency can cause serious episodes of pancreatitis. The deficiency is caused by pathology in the LPL gene. There are many variants in the LPL gene and quite a lot of them are pathogenic.The first gene therapy in Europe was licensed for the treatment of lipoprotein lipase deficienciency using a gain-of-function variant of the LPL gene. A pattern of examination was established to including MLPA, Light SNiP, quantitative real time PCR and sequencing in order to find pacients for the treatment. Three pacients suitable for the gene therapy Alipogene tiparvovec (AAV1-LPL S447X) were found amongst a group of patients with history of pancreatitis.
Asociace polymorfismu v genu pro sialoprotein s vybranými parametry kostí u kura domácího
Poliakh, Ievgeniia
IBSP gene for bone sialoprotein plays an important role in bone mineralization. The aim of the study was to find out if there is an association between bone mineral composition and A211G polymorphism in gene for bone sialoprotein. PCR-RFLP method was used for polymorphism genotyping. Calcium and phosphorus content of bone tissue were determined photometrically. The three-point bending test was applied to measure bone strength. Results was evaluated by one-way ANOVA with Fisher LSD post-hoc testing. No statistically significant differences between genotypes were found. This findings shows no support for association between bone content and polymorphism. So A211G polymorphism cannot been recommended for MAS.
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...

National Repository of Grey Literature : 45 records found   beginprevious16 - 25nextend  jump to record:
Interested in being notified about new results for this query?
Subscribe to the RSS feed.