National Repository of Grey Literature 57 records found  1 - 10nextend  jump to record: Search took 0.00 seconds. 
Mutation Screening in Familial Cardiovascular Diseases
Čapek, Pavel ; Brdička, Radim (advisor) ; Gregor, Pavel (referee) ; Baxová, Alice (referee)
Introduction: Hypertrophic cardiomyopathy is a congenital cardiac disease with autosomal dominant pattern of inheritance and incomplete penetrance. With the knowledge of the responsible genes, the ability to detect the underlying genetic change and with the study of functional analysis of defected protein, we might be able to determine whether specific genotypes lead to different phenotypes. Aims of Study: To comprehensively analyze the mechanism of genesis of hypertrophic cardiomyopathy in Czech patients afflicted with this disorder from molecular genetic point of view (MYH7, TNNT2 gene) to functional analysis of the 3D molecular model of defected β-myosin heavy chain protein in silico. Beside these aims of the study, the reduction of production of inflammatory aggregates in the cardiovascular system was studied in patients with type 2 diabetes mellitus. The reason of this study was to look into possibilities of therapeutical effect on selected cardiovascular risks in patients with hypertrophic cardiomyopathy simultaneously suffering from type 2 diabetes mellitus. Both of these groups of patients have substantially increased risk of cardiovascular diseases due to development of premature atherosclerosis. Material and Methods: A total of 170 probands were enrolled in this study of MYH7 gene. DNA...
Y-chromosomal polymorphisms in the Czech population with focus on Moravian Valachs: evolutionary anthropology study.
Ehler, Edvard ; Vančata, Václav (advisor) ; Černý, Viktor (referee) ; Brdička, Radim (referee)
1 Abstract Aim: This study presents an evolutionary anthropology approach to the history of Moravian Valachs. The origins of Valach population are approached by evaluating the admixture event that marked the appearance of Moravian Valachs. Methods & data: Focus of my Ph.D. project lies on Y-chromosomal variation, using 12 Y-STR loci haplotype to compute population genetic statistics, to infer Y-chromosomal haplogroup information and to compare Moravian Valachs to other European populations. Admixture analysis was performed. Our data set contains haplotypic information from 44 populations with the total of 4757 individuals. Moravian Valachs are presented by 94 DNA samples. Results: Our data reveal a decreased genetic variability in Moravian Valachs compared to other Central European populations. This feature is most probably caused by isolation of Valach population. Multidimensional scaling and comparison of FST distances shows Valach population as related to populations from Poland, Romania and Macedonia. Shared haplotypes and AMOVA tests place the Valachs to the Central European region. Also admixture analysis, as well as demographic and historical data, stresses the influence of autochthonous population of Moravia in the forming of Moravian Valachs. Conclusion: Moravian Valachs represent a hybrid...
Molecular Genetic Applications in Archeological and Anthropological Context
Urbanová, Markéta ; Černý, Viktor (advisor) ; Brdička, Radim (referee) ; Brůžek, Jaroslav (referee)
6 Coxcr-usroN The aim of our studywas to establisha laboratoryprotocolfor isolationand analysisof aDNA. By studying three different skeletal collections answersabout sex, kinship and presenceof pathogenicbacteriawere searched. During the course of this thesisnew protocols for aDNA study were developedand continuously optimized'We wereableto evaluateinformationaboutsexof 37 subadultindividuals(.l8'7%)from Mikulčice settlementcemetery(9thcentury)andto confirmpÍesenceof Mycobacteriumlepraeon 2 skeletonsfromŽatec cemetery(l3th century).Subadult skeletonsexaminationbrought interestingresults of extremelyhigher presenceof maleindividuals. Unfortunately,notall aimswerefulťrlled.By establishedprotocolfor aDNA kinshipanalysisit wasnot possibleto retrievesufficientinťormationfor explanationof familial relationshipof individualsfrom thesame doubleburialsite. All acquiredexperienceand establishedprotocols are very valuable and in fururewe supposetheir full utilizationandimorovementin thefield of kinshioanalvsisof aDNA molecule. 28
The mitochondrial genome in the ontogenesis
Töröková, Petra ; Brdička, Radim (advisor) ; Černý, Viktor (referee)
The main goal of this study is the comparison of sequences of the HVRII region of the mitochondrial genome in the cord blood sample and the saliva sample of the same individual, taken at average ten years from his/her birth. It is known that during ontogenesis the human genome changes. All the more the mitochondrial genome which shows a higher mutation rate, and moreover it is not taken care of it by repair mechanisms. In older individuals, there was found a distinctive amount of mitochondrial variations cumulated in different tissues in the process of the ontogenesis. This study is focused on the detection of these changes already in younger individuals. The tissue-specific variability which is created during ontogenesis might have an adverse influence on all sorts of the mtDNA based studies. The samples were taken in two regions (Teplice / Prachatice) that differ in the pollution of environment. With regard to that, the samples with discovered changes were compared from the standpoint of the region, which they had come from, with the aim to prove the influence of environment on the mutagenesis of the mitochondrial DNA. Samples were also compared from the point of view of sex. Furthermore the variability of the collection of Czech population was evaluated and the estimation of the genetic...
Apoptosis Signating Pathways and Biological Effects of TGFB
Šimáková, Olga ; Fuchs, Ota (advisor) ; Brdička, Radim (referee) ; Holada, Karel (referee)
Apoptosis is necessary for maintaing the integrity of all alive multicellular organisms and therefore needs to be precisely regulated. Very important regulators of apoptosis are pleiotropic cytokines from TFGβ superfamily (e.g. TGFβ, BMP, aktivins), whose signals are transduced by SMAD proteins. Patients with secondary myelodysplasias and acute myeloid leukemias (MDS/AML) frequently exhibit interstitial deletions of the chromosome-5q resulting in hemizygous loss of the transcription transactivator SMAD5. SMAD5 is a member of the signal transducer family conveying the pleiotropic TGFβ/BMP cytokine signals with roles in development, cell growth control, and tumor progression. Consistent Smad5 gene expression in these cell types and the gradual increase in its mRNA and protein levels in a model of induced erythroid differentiation of murine erythroleukemia (MEL) cells suggest a role of the gene in hematopoiesis. We show that bone morphogenetic protein 4 (BMP4) directs Smad5 activation in human hematopoietic cells, as monitored at the levels of protein phosphorylation, nuclear translocation, and specific transcription response. In vitro induction of normal human CD34+ cells by BMP4 results in significantly increased proliferation of erythroid progenitors (BFU-E) and formation of glycophorin- A+ cells, whereas...
The importance of Neolithic expansion in Central Europe - an assessment of phylogenetic age of mtDNA haplogroups in the Czech population.
Priehodová, Edita ; Černý, Viktor (advisor) ; Brdička, Radim (referee)
Agriculture, with different Neolithic cultures, starts in the Near East more than 10,000 years ago. This new way of life has very different archaeological manifestations that previous Mesolithic. After its Near Eastern emergence, the farming practices rapidly penetrated into southeastern Europe and the first signs of Neolithic in Central Europe are already 7,000 years old. It is being considered that the cultural innovations influenced demographic growth of the populations that have taken part in the Neolithic spread. In such situation, new mutations would have to fix and could form new specific haplogroups for Europe with ancestral ties to the Near East. Phylogeographic studies such as founder analysis of European and Near Eastern mtDNA sequences found that the European Neolithic component was enriched mainly by haplogroups J and T1, and that the genetic contribution of farming economy in European gene pool is about 10 - 20%. However, studies like these have not been yet realized in particular parts of Europe. The aim of this thesis is to disentangle the internal variability of Central European haplogroups J and T1 thought to be involved in the Neolithic demic diffusion. We classified these haplogroups from the HVS-I mtDNA sequences of 281 samples of the recent population of the Czech Republic. We...
Gene flow and its consequences for microevolution in Taraxacum (Asteraceae)
Marván, Richard ; Vančata, Václav (advisor) ; Brdička, Radim (referee) ; Lhota, Stanislav (referee)
Microsatellites(SIR) are very abundantand spread over the entire genome of all living organisms,so markers can be developedfor any genetic objective.Some SfRs exhibit very high levels of allelic variation.SIRs are generallyeasy to obtain and rapidlyassayed using polymerase chain reaction (PCR), requiringonly minute amountsof biologicalmaterial.Their distinctattributes made them attractiveand the popular tool of choice in a numberof applicationswithinthe area of biology' The core of this Íheslsconslsts of five chaptersrepresentingsťudieswhere we investigated autosomal or Y_linked SIRs Íocarry out our tasks. our objectives Were (i) to investigateallele frequencies for a set of autosomal SIRS, to estimatestandard population and forensic genetic parameters,and to perŤorman inter_populationcomparisonof allele frequencydata;(ii)to design a novel PCR-based Y chromosomeSIR multiplexassay for the analysisof highlydiverseloci, and to evaluateťhissysťemfor forensicand populationgenetic purposes;and (iii)to carryout the firststudy in a Pan paniscusgroup wherea combinationof behaviouraldata on male dominancerank and matingsuccess withgeneticdataonpaternityallowsthetestingof thepatternof relationshipsbetween thesevariables,and to evaluatepossib/econsequencesof the establishedgenetic relationshipsfor...
Lineage plasticity of leukemic cells
Slámová, Lucie ; Mejstříková, Ester (advisor) ; Brdička, Radim (referee) ; Machová Poláková, Kateřina (referee)
So far, the lymphoid to myeloid lineage switch during the treatment of B cell precursor acute lymphoblastic leukemia (BCP ALL) was identified only rarely in patients with the MLL gene rearrangement. We discovered a novel BCP ALL subset switching to monocytoid lineage during an early phase of the treatment - swALL ("switching" ALL) with no MLL gene rearrangement. The proportion of swALL cases among BCP ALLs was unexpectedly high (3-4%). All swALLs have expressed the CD2 antigen (LFA-2). The upregulation of C/EBPα gene and hypomethylation of the CEBPA promoter were significant in blasts already at diagnosis, proceeding the lineage switch in the majority of the cases. SwALL patients were characterized by unique subpopulation of the cells coexpressing B lymphoid and monocytoid markers. Changes in the gene expression of M-CSFR, GM- CSFR and other genes accompanied the lineage switch. The lineage switch could be recapitulated in vivo and in vitro. Even if the children patient with swALL respond slowly to initial therapy, the prognosis is comparable to "other" BCP ALLs. Risk-based ALL therapy appears to be the treatment of choice for swALL. Powered by TCPDF (www.tcpdf.org)

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