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Heteroploidy in bone marrow cells of children with acute lymphoblastic leukemia (ALL)
Matějčková, Nicole ; Zemanová, Zuzana (advisor) ; Krylov, Vladimír (referee)
Acute lymphoblastic leukemia is the most common type of cancer in children. It is a very heterogenous disease in which many recurrent chromosomal abnormalities have been described. The most important chromosomal abnormalities associated with a good prognosis are t(12;21)(p13;q22) which result in ETV6/RUNX1 fusion and hyperdiploidy. On the contrary findings suggesting a poor prognosis are t(9;22)(q34;q11) leading to fusion gene BCR/ABL1, MLL rearrangements or hypodiploidy. Heteroploidy is one of the most frequent findings in childhood ALL. It is characterised by nonrandom gain or loss of chromosomes from diploid cells. One of the most important findings in childhood ALL is hyperdiploidy where a non-random gain of chromosomes is present. Hyperdiploidy has a favorable prognosis and the impact of additional structural aberations requires further research. Another prognostically important group of heteroploidy is hypodiploidy. It is a quite rare finding and has a very poor outcome. There are non-random acquired chromosome losses observed in hypodiploid cells. Hypodiploid cell line may be masked with a doubled hyperdiploid clone which makes it difficult to identify. Proper and early cytogenetical analysis of heteroploid cells is very important as it contributes assigning correct diagnosis and risk stratification,...
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Molecular cztogenetic analysis of adaptive radiation in the gecko genus Paroedura (Squamata:Gekkota)
Koubová, Martina ; Kratochvíl, Lukáš (advisor) ; Šťáhlavský, František (referee)
Paroedura genus includes 17 described species endemic to Madagascar and the Comoros Islands, where they went through a significant adaptive radiation. The genus Paroedura is monophyletic and well supported hypothesis on phylogenetic relationships among its species was published. Species vary considerably in body size and morphology and in preferences for habitat, some species live in sympatry. The genus Paroedura belongs to cytogenetically poorly studied family Gekkonidae which exhibits high variability in modes of sex determination and in comparison with basal gecko lineages, also considerable variability in the chromosome number and morphology. Karyotypes of only two species of the genus (P. picta, P. sp.) have been published. The aim of my thesis was to describe karyotypes of both sexes in all available species of the genus using conventional and molecular cytogenetic methods, to perform the phylogenetic analysis of karyotype evolution and chromosomal rearrangements in the genus, to assess the role of these rearrangements in the speciation of the genus and to detect sex chromosomes. I acquired karyotypes of both sexes in nine species representing the most of major phylogenetic lineages of the genus. According to the results, species can be divided into three groups according to diploid...
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Evolution of karyotype and sex determination in iguanas (Squamata: Pleurodonta)
Altmanová, Marie ; Kratochvíl, Lukáš (advisor) ; Zrzavá, Magda (referee)
Squamate reptiles in general possess an unusual variability in karyotype and sex determining mechanisms. However, in these two aspects, iguanas (Pleurodonts) are considered as a relatively conservative group of lizards. So far only genotypic sex determination with male heterogamety has been detected in this lineage. However, the sex chromosomes have not been revealed in many species by classical cytogenetics, probably due to their homomorphy. Significant variability in karyotype was observed only in the species-rich genera Anolis, Sceloporus and Liolaemus. The aim of this thesis was to investigate the genome of available species from the main iguanid lineages using classical and molecular cytogenetic methods. As well as finding the karyotype characteristics, which may represent synapomorphies of main iguanid lineages, the other aim was to try to identify sex chromosomes. This study confirmed previously published karyotypes of 13 species and established new descriptions of karyotype for eight species. The chromosomes of all studied specimens were examined by methods of classical and molecular cytogenetics, 21 species covering eight iguanid families were analysed in this thesis. The majority of studied species shared the apparently ancestral karyotype of the group, with diploid chromosome number...
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Digital image analysis of mitotic chromosomes
Jaroš, Luboš ; Vítek, Martin (referee) ; Škutková, Helena (advisor)
The development in modern medicine has allowed to study human genome and detect predispositions to several diseases. One of very promising techniques is the analysis of human karyotype, i.e., the number and appearance of chromosomes in the cell nucleus. The most important step in the karyotype analysis is the chromosome detection and categorization. In this work, a new algorithm for detection of chromosomes from an image of microscopic DNA sample and their categorization into seven groups was developed. The algorithm was implemented in Matlab. The accuracy of segmentation and classification was tested on a set of images from two databases with 117 and 38 images, respectively. The sensitivity of the developed segmentation reached 88% while the value of positive predictivity of segmentation reached 92%. The success rate of chromosome pairing achieves 77%.
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