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Molecular analysis in cases of inherited diseas
Mrázová, Lenka ; Kmoch, Stanislav (advisor) ; Jirsa, Milan (referee) ; Macek, Milan (referee)
Urcení vztahu mezi onemocnením a jeho molekulární podstatou je jedním z hlavních cílu lékarské genetiky. V rámci studie: "Molekulární analýza vybraných dedicne podmínených onemocnení" byly popsány postupy, které vedou k objasnení molekulární podstaty u onemocnení s již známými odpovednými geny i u onemocnení, u kterého byl odpovedný gen teprve identifikován. Studie prispela k rozšírení znalostí zkoumaných dedicných onemocnení. Zavedené postupy molekulárních analýz jsou soucástí diagnostiky na Ústavu dedicných metabolických poruch v Praze. Výsledky techto analýz slouží k prevenci, prognóze i lécbe onemocnení a u postižených rodin byla umožnena prenatální diagnostika. Výsledky byly publikovány v nekolika domácích i zahranicních odborných casopisech a prezentovány na mezinárodních konferencích. Nekteré z publikací byly dále citovány.
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Genetic Aspects of Sporadic Ovarian Cancer
Jančárková, Natalia ; Freitag, Pavel (advisor) ; Rokyta, Richard (referee) ; Kohoutová, Milada (referee)
58 9. SUMMARY Molecular biological parameters, including genetic alterations, present new and perspective direction in diagnostics, prediction of prognosis, monitoring and possible therapeutic approaches in oncological disease. The results presented have to do with the project, which is concentrated upon chromosomal rearrangements in ovarian and cervical cancer and their correlations with available parameters of both molecular biological and clinical characteristics. Sixty patients with ovarian cancer and twenty patients manifesting cervical cancer were included into the study. The histological type and grade, MIB-1 and p53 (using immunohistochemical method) were estimated by histopathologist. Both conventional karyotyping and molecular-cytogenetic methods (fluorescent in situ hybridization and comparative genomic hybridization) were applied to reveal chromosomal aberrations. The results were subjected to statistical evaluation, using analysis of variances and χ2 test. There were correlated parameters of quantitative and qualitative character - age, stage, histological type, grade, CA 125 before and after treatment, MIB-1, p53, surgical residuum, lymphadenectomy, response rate, chromosomal rearrangements. Analyses accomplished in ovarian cancer group revealed typical amplifications on chromosomes 1q, 3q and...
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Investigation of the molecular mechanisms of elimination of clinically relevant tumors by killer cells of the immune system.
Libigerová, Martina ; Bosáková, Zuzana (referee) ; Bezouška, Karel (advisor)
Carbohydrates have an essentials role in wide range of biological phenomena. It is well known that most of the eukaryotic proteins are glycosylated and that their glycosylation undergoes dynamic changes, nevertheless the biological imperative for these modifications is still not fully understood. However, one area in which the importace of cell surface glycosylation has recently been the subject of active investigations is the tumor plasma membrane biology, where many changes in glycosylation have been found useful for diagnosis, and mostly recent, even for the therapies of malignant disease. Interestingly cell surface glycoconjugates, namely N-linked and O-linked oligosaccharides have been found therapeutically attractive for treatment of certain tumors. And although our understanding of the participation of these principal glycan classes in tumorigenesis is far from complete, there are already several examples of carbohydrate-based antitumor vaccines. Therefore, we decided to give this issue more attention, especially the molecular mechanisms responsible for identifying changes in glycosylation of the surface of tumor cells of the immune system. Although in the past in our laboratory identified a receptor-type lectin specific lectin receptors on natural killer cells, very little is yet known...
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Molecular cytogenetic analysis of cryptic chromosomal rearrangements
Kindlová, Markéta ; Kočárek, Eduard (advisor) ; Musilová, Jana (referee)
Microdeletion syndromes occur in high incidence in the population, the most common syndrome is DiGeorge syndrome. Its incidence is 1 : 4 000. Another relatively frequent syndromes are Williams-Beuren syndrome, Miller-Dieker syndrome, 1p36 deletion syndrome and others. Most of these syndromes cause the serious clinical disorder to their carriers. Early and reliable diagnosis can help in treatment of the affected patient (education, surgical correction, physiotherapy, pharmacotherapy) or in prenatal diagnostics. We use FISH (fluorescent in situ hybridization) or PCR (polymerase chain reaction) based methods to analyse cryptic chromosomal rearrangements, which cause these syndromes.
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Diagnostics of species complex in the family Adelgidae by molecular markers
JAROŠOVÁ, Andrea
Three molecular markers were tested for use in species identification of two selected genuses of the Adelgidae. Two mitochondrial markers were successfully amplified and sequenced, part of the COI gene and fragment between the COII and COIII genes. Their ability to distinguish species complexes was checked by statistical methods and by construction of phylogenetic trees.
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Installation and Administration bioinformatic Galaxy server
STEINHAISL, Jaroslav
This work describes the installation and administration of Galaxy server and following configuration and implementation of bioinformatic programs developed by Institute of Plants Molecular Biology of Biology Centre of the Academy of Sciences of the Czech Republic, v. v. i. . Configuration required modification of default server settings to ensure correct co-operation of Galaxy server and ProFTPD server, PostgreSQL database server and the Portable Batch System. Each bioinformatic program was implemented through XML tool configuration file which is used to define user web interface, types of the input and output data and additional options. Each combination of XML configuration file and bioinformatic program was subsequently tested on data files provided by Laboratory of Molecular Cytogenetics.
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Geneticky determinované choroby u border kolií
Trýznová, Alena
The thesis deals with the description of genetically determined diseases affecting the Border Collie breed. The described diseases include Collie Eye Anomaly, Trapped Neutrophile Syndrome and Ceroid Lipofuscinosis. The individual sections describe their symptoms, history, therapy, diagnostics and genetic dispositions of individual diseases, genetic testing methods and numbers of tested individuals. The thesis deals with diseases that could not be diagnosed genetically until recently; however, thanks to developing methods of molecular genetics, they are commonly available to breeders and owners at present.
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