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Digital image analysis of mitotic chromosomes
Hávová, Mariana ; Babula, Petr (referee) ; Škutková, Helena (advisor)
Changes in chromosome number and structure may cause serious diseases. Cytogenetic tests leadin to set of karyotype are done for detecting these abnormalities. Chromosomes are visualised with proper methods and karyotype is made up most often. Manual karyotyping is time-consuming and expensive task. Because of this, researchers have been developing automated karyotyping systems. Karyotyping systems classify chromosomes into classes based on their characteristic features. Overlapping and bent chromosomes are limitations for automatic classification since they ocur at almost every mitosis. Accuracy and reliability of karyotyping systems still depend on the human intervention. Overcoming of these problems and development of fully automated system is the aim of modern approaches.
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Analysis of chromosomal aberrations in sperm by fluorescence in situ hybridization
Bendová, Petra ; Diblík, Jan (advisor) ; Novotná, Drahuše (referee)
The presented bachelor work is focused on the determination of frequency chromosomally abnormal sperm in the semen of healthy men (donors) with normal karyotype (46, XY). The important process, which plays an irreplaceable role in the development of numerical aberrations of chromosomes or structural abnormalities in the segregation of the gametes, is meiosis. Therefore, I devote much attention on meiosis in the theoretical part. The theoretical part is focused on the process of pre mature sperm (spermatogenesis), and the consequences of fertilize the oocyte by aneuploid sperm. In my work I present an overview of numerical abnormalities in autosomes and gonosomes and their frequency and distribution of gametes in healthy men. I also focused on the distribution and a brief description of structural aberrations affecting chromosomes and not least I paid attention on method of multicolor interphase fluorescence in situ hybridization, which in combination with sperm chromatin dekondenzation become irreplaceable and valuable research tool for rapid analysis of chromosomal abnormalities in large sperm samples. The experimental part of bachelor work deals with monitoring the frequency of selected numerical abnormalities in sperm samples of five donors aged 23 to 30 years with the use of I-FISH (fluorescence in situ...
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Acquired chromosomal aberrationns in peripheral blood lymphocytes of patients with newly diagnosed cancer and healthy control individuals.
Vodenková, Soňa ; Polívková, Zdeňka (advisor) ; Langová, Martina (referee)
The majority of human cancers arise due to cells inabitily to maintain genomic stability. Cytogenetic changes (especially chromosomal aberrations) in peripheral blood lymphocytes which reflect not only the individual exposure to genotoxic factors, but also individual sensitivity to genotoxic effect and the tumor is late consequence to genotoxic effect. Summary epidemiological prospective studies over the last ten years have shown that increased level of chromosomal aberrations in peripheral blood lymphocytes is predictive of cancer risk. This thesis is focused on the detection of particular types of chromosomal damage in patients with choosed types of newly diagnosed cancers compared to healthy control persons. We cytogenetically analyzed 100 patients with colorectal cancer and 298 controls and 123 patients with breast cancer and 123 controls - healthy women. We compared the percentage of aberrant cells, the percentage of total aberrations, the percentages of chromatid and chromosome aberrations found in patients with both types of tumors and in controls and we verified the predictive value of chromosomal aberrations as a biomarker of cancer risk. In patients with colorectal cancer was statistically significantly increased only the level of chromatid aberrations (CHTA) (1,45±1,28) compared to...
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Role of chromosomal aberrations to evaluate genetic risk of exposure to carcinogens.
Rössnerová, Andrea ; Šrám, Radim (advisor) ; Rubeš, Jiří (referee) ; Kuglík, Petr (referee)
(in English) Air pollution is a serious worldwide problem associated with the risk of cancer. The negative effect of carcinogenic polycyclic aromatic hydrocarbons (c-PAHs), including benzo[a]pyrene (B[a]P), on human health is analyzed using specific biomarkers. Among them biomarkers of early effect play an important role. This work summarizes the results of cytogenetic analyses performed by fluorescence in situ hybridization (FISH) (whole chromosome painting of chromosomes #1 and #4) and automated image analysis of micronuclei (MN). During the analyses a total set of 1304 samples was analyzed by the FISH method and 885 samples by the automated image analysis of MN. Studied groups including city policemen, garage men, bus drivers, administrative workers, mothers, newborns, healthy children and children with bronchial asthma and laboratory workers were from Prague, Ostrava and Ceske Budejovice. The locations significantly differed in levels of air pollutants and the type of air pollution. The exposure of participants of the study was assessed by personal and stationary monitoring. The impact of other factors including age, smoking or intake of vitamins was also evaluated in these studies. The results obtained by the FISH method in Prague showed the impact of seasonal variability of concentrations of...
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Mutační status a jiné chromozomální změny u chronické lymfatické leukémie
ŠLOUFOVÁ, Martina
This thesis is focused on mutation status and other chromosomal changes in chronic lymphocytic leukemia. CLL is a lymphoproliferative illness with a low malignancy based on clonal proliferacy of malignatly transformed B lymphocytes. Although this is the most frequent malignant illness in western population, the cause leading to its origin has not been yet clearly given. Identifying prognostic markers has a significant meaning in identifying the illness prognosis, the choice of treatment strategy, and it influences general survival of patients. The aim of this thesis is to describe the frequency of the most usual mutations in patients suffering from CLL. All the results obtained from CLL patients were acquired from the Hospital in České Budějovice from 2016 to 2018.
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Developmental defects and their examination in biochemical screening
TOMANOVÁ, Andrea
This thesis deals with the issue of congenital developmental defects, with the focus on the most frequently occurring chromosomal aberrations. The main focus is biochemical screening of pregnant women as an integral part of prenatal diagnostics. The aim is to produce summary statistics of the occurrence of the three most frequent chromosomal aberrations based on acquired data and to compare the results with the official statistics of the occurrence of these anomalies within the Czech Republic.
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