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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
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Body composition changes in obese children during the weight reducing programme. The study of selected candidate genes for obesity and their associations with anthropometric and biochemical parameters.
Zamrazilová, Hana ; Bláha, Pavel (advisor) ; Štich, Vladimír (referee) ; Brdička, Radim (referee)
L. Abstrakt Background: Theprevalenceof obesityhasoverthe pasttwentyyearsgrownto suchanextentthat it is now commonlyrefenedto as a pandemic.From the point of view of healthrisks and complicationsconnectedwith obesity,the fact that this increasingtrend is prominenteven in childrenseemsto beveryserious.Thestudieshaveprovedclearrelationsbetweenearlyobesityand obesitypersistinguntil adulthood,the amountof visceralfat, cardiovascularrisks,diabetestype2, hypertensionandhyperlipidemia. Aims: To detect weight changesand body compositionchangesin children during the comprehensive5-6 weekin-patientweightreducingprogramme.To comparethe amountof body fat determinedby anthropomehicmethodsandDEXA method.To evaluateselectedbiochemical and hormonal parametersof lipid and glucosemetabolismsin obesechildren. To detectthe dependenceof anthropometricand biochemicalparameterson polymorphismsprolgl9pro, Ser343SerandGln2?3Argof the LEPRgene,andpolymorphismLeul62Valof theppARalfagene. Results: The study showed significant difftrences in body weight decreasesexpressedin percentagefromtheinitialbodyweightin thegroupof obesegirls(p & 0.001).Girlsthelowestage category(7-9 years)hadsignificantlygreaterweightlossescomparedto theirweightat thestartof theirstay,opposedto girlsin higheragecategories(11-17years,p & 0.05).At thebeginningof...
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Detection of minimal residual disease in patients with early breast cancer
Janků, Filip ; Matouš, Bohuslav (advisor) ; Brdička, Radim (referee) ; Melichar, Bohuslav (referee)
Breast cancer is one of the most serious health problems in our society. In the Czech Republic there are nearly 6000 women newly diagnosed annually. Despite the increasing incidence the mortality is leveling off or even decreasing in many countries (152,153). It is probably attributed to earlier diagnosis and the introduction of screening mammograms in many developed countries (154), and new findings in molecular biology of tumors. Several molecular factors are already routinely used in routine clinical practice as prognostic (estrogen and progesterone receptors, HER-2/neu, p53, Ki-67, vascular endothelial growth factor-VEGF), and predictive factors (estrogen and progesterone receptors, HER-2/neu) or therapeutic targets of anticancer treatment (estrogen and progesterone receptors, EGFR, HER- 2/neu, HER3, HER4, VEGF, mTOR) (7,45,155-157). The detection of minimal residual disease in early breast cancer is another attempt to implement modern diagnostic technologies in order to improve treatment outcomes. The aim of the study was to investigate diagnosis and prognostic implications of minimal residual disease in axillary lymph nodes, and bone marrow of patients with early breast cancer. The most promising material was bone marrow. From the clinical point of view it is necessary to validate both...
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Effect of gene expression in hyperproliterative skin diseases
Lysá, Barbora ; Arenberger, Petr (advisor) ; Kohoutová, Milada (referee) ; Brdička, Radim (referee) ; Nečas, Emanuel (referee)
The introductory part of this thesis gives insight into selected aspects of the issue deals with hyperproliferative outlining the molecular basis of skin diseases, which are included in addition to psoriasis as well as the characteristic representative of non-melanoma skin cancers. Further analyzes partly exogenous influence of UV radiation on their formation. The actual research work is focused on a group of genes whose expression was studied in actinic keratosis disease in relation to its treatment of topical immunomodulators - imiquimod. Examined genes can be divided into groups of genes modulating the immune response, genes involved in apoptotic processes and the genes playing a potential role in tumor formation.
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Mitochondrial DNA diversity in populations of sub-Saharan Africa - role of language and geographic patterns
Musilová, Eliška ; Černý, Viktor (advisor) ; Brdička, Radim (referee)
To investigate relationships between genetic, linguistic, and geographic variation in Africa, we sequenced HVSI segment of mtDNA genome in 81 individuals of two West African populations from different linguistic families. These sequences were compared to similar data published by other authors. The interpopulation analysis included 4550 mtDNA HVSI sequences of 101 populations in total representing main African geographic and linguistic diversity. AMOVA indicates that the mtDNA among-group variation is higher when populations are grouped by geography (9,85 %; p < 0,001) than by linguistics (4,09 %; p < 0,001). Also MDS plotting based on FST data reveal a correlation between genetic and geographic distances and hardly any correlation between genetic and linguistic distances. The linguistic relation does not strenghten even if the most heterogenous language families (Niger-Congo, Khoisan) were removed from the analysis. These data suggest that complex patterns of diferentiation and gene flow in sub-Saharan Africa were influenced mainly by the admixture and language borrowing between expanding Bantu agriculturists and local hunter-gatherers in the last 3000 years, but the descent of some recent populational-genetic events can be traced in other parts of Africa. Powered by TCPDF (www.tcpdf.org)
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The study of mitochondrial biogenesis during fetal development
Pejznochová, Martina ; Zeman, Jiří (advisor) ; Hyánek, Josef (referee) ; Brdička, Radim (referee)
Postnatal adaptation of neonate to extrauterine life is among others dependent on effective mitochondrial biogenesis during fetal development. Therefore the study of mitochondrial biogenesis on molecular and biochemical level may improve the care of very premature neonates, especially critically ill premature neonates. This thesis has been worked out in The laboratory for study of mitochondrial disorders (Department of Pediatrics, 1st faculty of Medicine, Charles University in Prague). The thesis is based on molecular genetic analyses, which are focus on characterization of expression of gene involved in mitochondrial biogenesis including gene of oxidative phosphorylation system (OXPHOS) and on changes in mtDNA content during human fetal development. The results than enable : Efective analysis of the mRNA expression level by quantitative real-time PCR method in fetal tissues. Analysis of the changes in the mtDNA content in different fetal tissues To understand and to explain the tissue-specific differences in expression of the OXPHOS genes and of the genes involved in mtDNA transcription and in regulation of mtDNA content during second trimester of gestation.
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The Idea of Gene and some of It's Ethical Consequences
Franková, Věra ; Payne, Jan (advisor) ; Brdička, Radim (referee) ; Križan, Peter (referee)
The term gene was coined in 1909 by Wilhelm Johannsen to designate theoretical unit of genetic analysis. Concept of the gene has changed over time due to progress in genetics and its experimental practice. Currently used molecular concept is based on linear correspondence between DNA sequence and its product (Waters 2007). It also describes gene as discrete physical structure - DNA segment with clearly defined boundaries. But the investigation of wide range of genomes has put the molecular concept of gene into doubt. The aim of PhD thesis is to specify the term gene by employing mechanical, semantic and hermeneutic interpretation (Payne 2002, 101-124). It summarizes history of the gene and presents some of the biological findings that undermine the molecular concept. In biological context the gene is always connected to DNA molecule. But it can be shown that DNA functions only as a mediator or carrier, and the substance of gene is not material but it has a character of information. Therefore in the semantic view the gene is information containing instruction for development of phenotypic trait which is specified by medical or other theoretical interest. Hermeneutical interpretation of the gene can be point out in clinical genetics. Here the gene is also information containing instruction for development of...
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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...
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