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Dwarfism. Pathogenesis with a special focus on genetic factors.
Procházková, Lucie ; Daňková, Pavlína (advisor) ; Křepelová, Anna (referee)
Nanism is a kind of disorder characterized by an extremely small figure. It can be caused by hormonal, genetic or metabolic defects. This work, which is composed by study of materials in the form of article and publication mainly by foreign authors, is concerned with chosen types of nanism and their pathogenesis. All these types of this disease are caused by genetic defects in following genes: FGFR3, COMP, COL2A1, DTDST and PTH/PTHrP. Point mutations arising de novo are frequent cause of nanism and mostly are inherited autosomal- dominantly. It's a large group of disorders with different seriousness level: from light form like multiple epiphyseal dysplasia to lethal form such as thanatophoric dysplasia.
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The hereditary sensomotoric neuropathy.
Jelínková, Zora ; Daňková, Pavlína (advisor) ; Šolc, Roman (referee)
Hereditary motor and sensory neuropathy (in short HMSN or hereditary sensomotoric neuropathy) also known as Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases which are the most frequent disorders affecting peripheral nervous system. The prevalence of these illnesses is generally 5 - 40 people per 100 000 inhabitants. CMT was first described in the 1886. Because of a large number of various types of mutations classification of HMSN is disunited. The main division of CMT depends on the median motor conduction velocity (and also on the part of nerve that was damaged). It is demyelinating (CMT 1) type and axonal (CMT 2) type. Further classification depends on the mode of heredity and phenotypic expression. Autosomal dominant CMT are divided into four main types - CMT 1A to D. Similar, CMT 2 could be distinguished by genetical subtype as well or, the classification can follow phenotypic expression. Beside the autosomal inherited HMSN, other types of hereditary sensomotoric diseases do exist: intermediate CMT, X-linked CMT, Déjerine-Sottas syndrom, congenital hypomyelination neuropathy and hereditary neuropathy with liability to pressure palsy. Individual types of HMSN are caused by mutations in various genes that are localized on different chomosomes. The...
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Genetic risk factors of system autoimmune diseases
Bičíková, Adéla ; Daňková, Pavlína (advisor) ; Novota, Peter (referee)
One of the characteristics of systemic autoimmune diseases is the production of autoantibodies against self antigens. Genetic predisposition is supported by the HLA class II DQB and DRB genes, which constitute only about 40% of the risk. In the last few decades the search of other genetic risk factors noted major progress. There are many genetic risk factors that are shared by systemic disorders. These include genes such as PTPN22, STAT4, IRF5, TNFAIP3, TNFSF4, BANK1, BLK, CTLA4, genes coding for Fcγ receptors, FAS and others. Their presence suggests the existence of identical or similar mechanisms involved in the pathogenesis of autoimmune diseases. Conversely, many genetic factors predisposing to the development of the disease are specific to single system disorders. These genes often encode proteins involved in the functioning of the immune system, whether they are genes whose function has resulted in production of autoantigens (PADI4 and TREX1), or are responsible for the failure in selection of autoreactive T cells in the thymus (PTPN22), for antigen presentation to CD4+ T cells or cause the activation of autoreactive B cells (BANK1, IRF5, BLK).
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Molecular genetics of celiac disease
Němečková, Iva ; Daňková, Pavlína (advisor) ; Tučková, Ludmila (referee)
Celiac disease is an organ-specific autoimmune disease that arises as a consequence of hypersensitivity to the grain gluten in genetically susceptible individuals. Genetic predisposition are HLA-DQ2 and HLA-DQ8 genes, which are necessary but not sufficient for the emergence of celiac disease; it is involved in approximately 40% of the inheritance. In the course of the time, other genes that might contribute to the pathogenesis of celiac disease are being discovered. Among these so-called candidate genes, which are sought on the basis of known knowledge of molecular mechanisms of innate and adaptive immune responses, are for example: MIC, TNF, CTLA-4, CD28, ICOS, MYO9B, MMP, TLR and PTPN22. Immune response triggered by gluten peptide penetration into the lamina propria leads to mucosal damage. Different gluten peptides are involved in the pathology of celiac disease in different ways, some peptides trigger an adaptive immune response, while others, such as peptide p31- 43, triggers an innate immune response.
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Using of quantitative DNA method as a screening tool for effecient genotyping of samples in forensic DNA laboratory.
Koljenšič, Ivana ; Stenzl, Vlastimil (advisor) ; Daňková, Pavlína (referee)
Quantification of human DNA in forensic samples is an important step during STR profiling because the STR genotyping is sensitive to the quantity of DNA used in the PCR reaction. This study focuses on the importance of quantification in the entire process of genetic analysis. Two real time PCR platforms (Roche LightCycler480 System and ABI 7900 RT PCR) were used to compare two commercial kits in terms of DNA quantification. It was found out that accuracy of absolute quantification values in commercial quantification kits is strongly dependent on the construction of calibration curve. Especially low template DNA samples were used to assess whether QuantifilerTM or Plexor® HY System can determinate a minimum quantification value (cut off value) below which STR profiles would consistently fail to be detected. The usage of Plexor® HY System enabled to determine the cut off quantification value more exactly probably due to different molecular background and chemistry used in this kit. Reliability and other issues connected with cut off value are discussed. In order to better understand the relationship between the quantity of DNA and the number of detectable loci series the dilution experiment with standard DNA007 was done. Quantitative and qualitative consequences of input DNA amount in evaluation of...
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Cytogenetic methods in genotoxicology
Bártů, Linda ; Langová, Martina (referee) ; Daňková, Pavlína (advisor)
We are constantly exposed to a variety of factors which may be a cause of DNA mutations. The influence of mutagens of physical, chemical and biological origin is studied by genotoxicology. Ionic radiation is among the most common physical mutagens, benzene, vinylchloride or some drugs represent the chemical mutagens, while some viruses and may act as biological mutagens. The repair mechanisms of double strand breaks can be divided into those that require HRR-homologous sequences and those that may use of microhomologies consisting of a short DNA sequence (NHEJ). Both mechanisms can lead to aberrations of chromosomes, if they are not precise. Acquired chromosomal aberrations include translocation, common in cancer cells; deletion; or the production of acentric fragments, dicentrics and rings. Chromatid aberrations includes chromatid breaks and chromatide exchanges. There are various methods for detecting/examining such mutations and these can be categorised according to the phases of the cell cycle. The basic method is clasic Giemsa stain which reveals the most of aberrations except translocations and inversions and numeric abnormalities in metaphasic cells. Another way of testing mutagenicity is determining the rate of sister chromatide exchange; or the so called micronucleus test used to measure...
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Ethical responsibility of auditors, tax advisors and accountants
Daňková, Pavlína ; Dvořák, Martin (advisor) ; Žárová, Marcela (referee)
The Bachelor thesis deals with the issues of etiquette and professional responsibility of auditors, tax consultants and accountants. The main sources are especially valid legislative regulations and ethical codes stipulated for these professions. The goal of the thesis is to make comparison of these related professions from the view of legislation, ethical requirements and possibilities of prevention from violating professional responsibility. It also focuses on the extent of individual professions´ responsibilities towards both clients and institutions associating these specialists. The thesis concentrates on the role of these institutions with respect to supervision of the ethical and other rules. I treated these issues by processing and subsequent application of expert information. The thesis is concluded by summary and proposal of measures leading to the improvement of current situation and to the preservation of the status of the mentioned professions in the society.
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