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Molecular-cytogenetic diagnostics of marker chromosomes
Tesner, Pavel ; Kočárek, Eduard (advisor) ; Zemanová, Zuzana (referee) ; Šubrt, Ivan (referee)
Supernumerary marker chromosomes (sSMCs) are a relatively rare cytogenetic phenomenon. Their laboratory examination is often difficult, and the clinical interpretation is even more challenging. The main reason is that most sSMC carriers have no clinical manifestations. The chromosome origin and exact range of the aberration are very important, as well as the fact that sSMCs are often found in mosaics that can strongly influence both the phenotype and the interpretation of result. Prenatal sSMC finding is one of the most challenging situations in both clinical and laboratory genetics. This work deals with the investigation process of sSMC carriers using molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH). We investigated a total of 67 families collected both prospectively and retrospectively, and we found 70 unique sSMCs in a total of 74 individuals. Six cases were familial and in three cases two sSMCs were found in one individual. According to the initial karyotype finding, the cases were divided into two groups, sSMCs supernumerary to a normal karyotype (group A) and sSMCT s supernumerary to the Turner karyotype (group B). The chromosomal origin was successfully determined in 88,6 % sSMCs. In group A the most common findings were sSMCs derived from chromosome 15,...
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Analysis of structure and origin of multiple sex chromosomes in \kur{Leptidea} wood white butterflies
POSPÍŠILOVÁ, Kristýna
Previous studies have shown a dynamic karyotype evolution and the presence of complex sex chromosome systems with 3-4 W chromosomes and 3-6 Z chromosomes in Leptidea wood white butterflies. To dissect the evolutionary history of multiple Z chromosomes of Leptidea species, we used identified and selected bacterial artificial chromosome (BAC) clones containing orthologous genes of Bombyx mori chromosome Z and 17, isolated them from the available BAC library and used them as probes for physical mapping by BAC-FISH, first in L. juvernica, then in the closely related L. sinapis. In both Leptidea species, the majority of BAC clones corresponding to the linkage group Z of the B. mori reference genome hybridized to one chromosome of the complicated sex chromosome multivalent. Thus, we named it as Z1 chromosome. Location of all Z-derived BAC clones was identical in both species suggesting a conserved synteny and gene order between L. juvernica and L. sinapis Z1 chromosome. Moreover, our findings indicate that the Z1 chromosome is probably the ancestral Z chromosome in the genus Leptidea. Results of BAC-FISH mapping with clones corresponding to the linkage group 17 of the B. mori reference genome revealed the fusion/translocation event between an ancestral Z chromosome and the chromosome corresponding to B. mori chromosome 17 and supported a previous hypothesis about the role of chromosomal rearrangements in the formation of multiple sex chromosomes in Leptidea butterflies.
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Possibilities of assessment and the relevance of the results of FISH analysis of chromosomal abnormalities in mosaics
Neužilová, Linda ; Kočárek, Eduard (advisor) ; Panczak, Aleš (referee)
This bachelor thesis deals with mosaicism and its detection. Mosaicism is defined as the presence of two or more cell lines with different karyotype in the patient's body. An aspect of particular importance for the resulting phenotype is the overall ratio in which the individual cell lines are represented. It is often found in Turner and Klinefelter syndrome. Turner syndrome is caused by the loss of a part of, or the whole of the X chromosome in females and it belongs among the most common chromosomal constitutions, found in spontaneous abortions. However, it is estimated that only about half of the women with Turner syndrome have karyotype 45,X; the others are mosaics or have other abnormalities of the chromosome X. The main aim of the practical part of this thesis was to evaluate the possibilities of detecting mosaicism using fluorescence in situ hybridization (FISH) and to consider the possible factors affecting the accuracy of the examination. The objectives of the assessment were the individual variability between the evaluators and also the differences caused by using two differently labelled probes. As a result, the thesis confirms that the FISH method enhances the accuracy of the results of conventional cytogenetic examination and it is suitable for analysis of mosaicism thanks to the possibility of...
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Karyotype analysis of selected representatives of two pedipalpid orders, Amblypygi and Uropygi
Sember, Alexandr ; Král, Jiří (advisor) ; Ráb, Petr (referee)
Karyotype analysis of selected species from arachnid orders Amblypygi and Uropygi Whip spiders (Amblypygi) and whip scorpions (Uropygi) represent relict arachnid orders which has been found already at Upper Carboniferous strata. Although cytogenetic data from amblypygids and uropygids might be important to reconstruct karyotype evolution of arachnids, cytogenetics of these orders is almost unknown. Presented study is aimed in analysis of karyotype and meiosis in 16 species of Amblypygi and 4 species of Uropygi. Both groups are characterized by considerable range of diploid chromosome numbers (2n = 24 - 86 in Amblypygi and 36 - 66 in Uropygi). Analysed species does not exhibit morfologically differentiated sex chromosomes. Differentiation of sex chromosomes on molecular level was revealed in amblypygid Paraphrynus mexicanus by comparative genome hybridization. Obtained data indicate XY/XX sex chromosome system in this species. Comparison of karyotype data indicates reduction of chromosome numbers during evolution of both orders. In Amblypygi, this reduction was accompanied by increase of number of biarmed chromosomes. This trend is not apparent in Uropygi. Karyotypes of most analysed amblypygids and uropygids are also characterized by low amount of heterochromatin. Most studied species exhibit two pairs...
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