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- W2590028651 abstract "Unbalanced constitutional and acquired chromosomal aberrations play a major role in pathogenesis of many genetic diseases in human. Due to this fact, methods that enable genome-wide determination of gains and losses of genetic material hold important position in modern cytogenetics. Since 1992, approaches based on comparative genomic hybridization (CGH) have been used. They enable genome-wide analysis of DNA sequence copy number differences in a single experiment. Aim of this dissertation was to establish, optimize and verify sensitivity and specificity of high resolution comparative genomic hybridization (HR-CGH) and array-CGH in detection of unbalanced chromosomal rearrangements in patients of the Department of Medical Genetics, Medical Hospital Brno. In 2004, we developed HR-CGH technique in cooperation with the Laboratory Imaging Ltd., Prague as the first laboratory in the Czech Republic. In order to test sensitivity of this technique, patients with specific microdeletion syndromes were analyzed, and the detection limit was assessed to 4 Mb. To determine a clone prevalence that can be identified by the HR-CGH, verification of HR-CGH results was carried out using FISH method and series of tests with DNA of patients with cytogenetically well-defined congenital chromosomal abnormalities. Both approaches confirmed the ability of HR-CGH to detect unbalanced changes at 20–30 % incidence of aberrant clones in samples. In the next step, the HR-CGH was used to screen clonal chromosomal imbalances in clinical praxis. Constitutional chromosomal changes were studied mainly in patients with mental retardation, developmental delay and/or facial dysmorphism; acquired aberrations were analyzed in patients with glioblastoma multiforme, multiple myeloma, and in children with acute leukaemia. In all cases, the HR-CGH detected not only a higher incidence of chromosomal imbalances but also aberrant clones with a prevalence less than 50 %, and thus allowed more precise characterization and stratification of these malignant diseases. The method of array-CGH represents the latest improvement of the CGH technique. This method was tested and applied in research using both BAC clones (Abbott Molecular Inc.) and oligonucleotides (Agilent Technologies). Using this approach, the first evaluations of patients with costitutional and acquired chromosomal aberrations showed that array-CGH enables not only a better definition of range of genetic changes but also identification of particular genes included in deleted or gained areas." @default.
- W2590028651 created "2017-03-03" @default.
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- W2590028651 date "2008-01-01" @default.
- W2590028651 modified "2023-09-23" @default.
- W2590028651 title "Charakterizácia vrodených a získaných chromozómových aberácií pomocou techník komparatívnej genómovej hybridizácie s vyšším rozlíšením (HR-CGH) a array-CGH" @default.
- W2590028651 hasPublicationYear "2008" @default.
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