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Aberrations of chromosome 5 in adult patients with myelodysplastic syndromes (MDS)
Šejgunovová, Nikola ; Zemanová, Zuzana (advisor) ; Urbánková, Helena (referee)
Myelodysplastic syndrome (MDS) is a clonal disease of hematopoesis resulting from damage to hematopoietic stem cells. The most common chromosomal aberration in patients with MDS is deletion of the long arms of chromosome 5, del(5q). The aim of this study is to analyse unbalanced aberrations of chromosome 5 in MDS patients, to compare the extent of 5q deletion in groups of patients with isolated del(5q) and with del(5q) in complex karyotypes, and to study the effect of the extent of del(5q) on overall survival and prognosis of the disease. We combined cytogenomic methods to examine 88 bone marrow samples from patients with MDS and del(5q) confirmed by conventional banding methods. Del(5q) was present in the karyotype as an isolated aberration in 31 patients (35,2 %), in combination with one other clonal aberration in 9 patients (10,2 %), and as part of complex karyotypes in 48 patients (54,6 %). Patients with complex karyotypes had a lower overall survival than patients with isolated del(5q). The occurrence of complex karyotypes was associated with a large extent of 5q deletion. When both the occurrence of complex karyotypes and the extent of 5q deletion were considered, only karyotype complexity had a significant effect on patients' overall survival. The extent of the deletion does not affect...
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Molecular composition and ultrastructure of holokinetic chromosomes
Šejgunovová, Nikola ; Král, Jiří (advisor) ; Dalíková, Martina (referee)
Holokinetic chromosomes are a specific type of chromosomes which differentiate from standard (monocentric) chromosomes especially by a diffuse form of domain which binds microtubules (holocentromere). It is related to changes on an ultrastructural and molecular level. These changes are shown in modifications in mitotic and meiotic division and in evolution of karyotypes. Holokinetic chromosomes don't have a primary constriction with a localized centromere and therefore neither an inner centromere domain which would connect sister chromatids. Kinetochore structure of holokinetic chromosomes seems to be simpler than kinetochore structure of monocentric chromosomes. Kinetochore covers most of the surface of mitotic chromosomes. There have been described several variants of meiosis of holokinetic chromosomes which differentiate by position of kinetochore on chromosomes. On a molecular level holokinetic chromosomes differentiate from monocentric chromosomes by a distribution of proteins of a centromere-kinetochore complex, which cover most of the surfaces of mitotic and meiotic chromosomes. This applies, for example, to centromeric histone H3 (CENH3), whose amount and distribution changes during interphase and nuclear division, which is unique in comparison to monocentric chromosomes. The distribution...
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