|
|
Molecular genetic approaches used in preimplantation genetic analysis of human embryos in assisted reproduction
Limbergová, Jana ; Machoň, Ondřej (advisor) ; Šimoník, Ondřej (referee)
Preimplantation genetic testing is one of the main clinical procedures that take place in assisted reproduction centres around the world. It is sought after by couples for many different reasons. The causes of problems may relate to hereditary diseases that potential parents do not wish to pass on to their offspring, or may include the risk of transmission of chromosomal alterations. In addition, infertility may be caused by an increased risk of embryo aneuploidy, which correlates with mother's increased age and other factors that this bachelor thesis discusses. The bachelor thesis also focuses on up-to-date approaches to cytogenetic examinations for reproductive genetics and discusses recent clinical molecular methods that are used to improve the diagnosis and therapy of infertile couples. These are, for example, microarray methods, quantitative real-time PCR or next-generation sequencing and methods of whole-genome amplification. This work also summarizes methods that are gradually being abandoned, e.g. fluorescent in situ hybridization, and compares their advantages and disadvantages. Key words: preimplantation genetic testing, aneuploidy, structural rearrangements, monogenic diseases, biopsy, fluorescent in situ hybridization, microarray methods, comparative genomic hybridization, quantitative...
|
|
|
Karyotype analysis of mesothelid spiders
Prokopcová, Lenka ; Král, Jiří (advisor) ; Zrzavá, Magda (referee)
Cytogenetics of mesothelid spiders is largely unkown. The presented diploma thesis is focused on the karyotype evolution of these spiders. As it is the most basal group of spiders, the analysis of its cytogenetics can bring important data about ancestral spider karyotype. In the framework of my thesis, I analysed diploid chromosome numbers, chromosome morphology, meiotic division, sex chromosomes and the pattern of selected molecular markers that were detected by fluorescence in situ hybridization. According to my results, mesothelid spiders have a high number of chromosomes and the prevalence of monoarmed chromosomes. Unlike other spiders, mesothelids have little differentiated sex chromosomes. Key words: evolution, spider, chromosome, karyotype, fluorescence in situ hybridization, nucleolar organiser region, sex chromosomes
|
|
|
Analysis of sex chromosomes and gene clusters in selected mygalomorph and araneomorph spiders
Pappová, Michaela ; Král, Jiří (advisor) ; Johnson Pokorná, Martina (referee)
1 Abstract: The diploma thesis focuses on study of sex chromosomes evolution and repetitive organized genes of chosen mygalomorph and araneomorph spiders. Spiders are characterized by complexicity of sex chromosome systems, their karyotypes contain multiple sex chromosomes X. Besides multiple X chromosomes they also contain a pair or two pairs of nondiferentiated sex chromosomes X and Y. The used methods include methods of classical cytogenetics (preparation of chromosome slides, C-banding) and methods of molecular cytogenetics (fluorescent in situ hybridization and comparative genome hybridization). Complex sex systems were discovered in the studied Theraphosidae spiders. In Theraphosidae spiders Atropothele socotrana and Poecilotheria vittata neo-sex chromosomes were found. Analysis of molecular differentiation of sex chromosomes suggests low differentiation of Y chromosome in neo-sex chromosomes and pair of nondifferentiated sex chromosomes XY. In haplogyne spider Kukulcania aff. hibernalis (X1X2Y), the Y chromosome was significantly differentiated, male specific signal covered the whole chromosome. Detection of 18S rDNA showed that karyotypes of majority of analysed Theraphosidae spiders and haplogyne spiders contain low number (1 or 2) of nucleolar organizing regions localized terminally, which...
|
|
|
Karyotype analysis of mesothelid spiders
Prokopcová, Lenka ; Král, Jiří (advisor) ; Zrzavá, Magda (referee)
Cytogenetics of mesothelid spiders is largely unkown. The presented diploma thesis is focused on the karyotype evolution of these spiders. As it is the most basal group of spiders, the analysis of its cytogenetics can bring important data about ancestral spider karyotype. In the framework of my thesis, I analysed diploid chromosome numbers, chromosome morphology, meiotic division, sex chromosomes and the pattern of selected molecular markers that were detected by fluorescence in situ hybridization. According to my results, mesothelid spiders have a high number of chromosomes and the prevalence of monoarmed chromosomes. Unlike other spiders, mesothelids have little differentiated sex chromosomes. Key words: evolution, spider, chromosome, karyotype, fluorescence in situ hybridization, nucleolar organiser region, sex chromosomes
|
|
|
Analýza karyotypu vakonošů (Psychidae, Lepidoptera) metodami klasické a molekulární cytogenetiky
HEJNÍČKOVÁ, Martina
Due to their phylogenetic position, Psychidae play an important role in the investigation of the W chromosome origin in Lepidoptera. Several species of Psychidae were tested for the presence of sex-chromatin and investigated via comparative genomic hybridization. Furthermore, odd chromosome numbers and a Z univalent were observed in females. Overall, this study brings tangible evidence for the absence of the W chromosome in Psychidae, thus contributes to complex knowledge of the W chromosome evolution. In addition, karyotypes of the given species were analyzed using 18S rDNA and histone H3 probes. The results indicate relative stability of their karyotypes.
|
|
|
Methods of molecular cytogenetics: evolution, analysis, comparison
Budková, Kateřina ; Šolc, Roman (advisor) ; Daňková, Pavlína (referee)
Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of chromosomes, especially during the cell division. Chromosomal abnormalities that may occur during this process are often associated with the emergence of various diseases. Cytogenetic methods are primarily used to detect these abnormalities. Traditional methods allow resolution at the level of whole chromosomes, the introduction of new molecular methods led to a significant refinement of these analyzes. Today's methods allow easy analysis of chromosomes to the level of individual sequences. Despite significant differences between classical and modern cytogenetic techniques, classical cytogenetic methods are not evil, but they are still widely used. Combining classical and molecular methods in order to obtain a comprehensive analysis of chromosomal rearrangements is no exception.
|
|
|
Genetic changes in neuroectodermal tumors detected by molecular biological methods.
Vosecká, Tatiana ; Vícha, Aleš (advisor) ; Eckschlager, Tomáš (referee)
9 ABSTRACT Tatiana Labudová: Genetic changes in neuroectodermal tumours detected by molecular biological methods. Charles University in Prague, Faculty of Science, Department of Anthropology and Human Genetics Thesis, 75 pages,8 supplements, 2012 This thesis is concerned to neuroectodermal tumours that make a major group of infant tumour diseases. Genetic material gained from patients with neuroectodermal tumours was examined using comparative genomic hybridization (CGH) and interphasic fluorescence in situ hybridization (I-FISH). The aim of this Thesis is to prove chromosomal changes and to create the whole genetic profile. According to these profiles can be determined tumourgenetic cascade or specific genetic changes that lead to malignant tumours. In some cases (f.e. neuroblastoms) the genetic profile helps us to determine a subtype of disease and it's biological behaviour. Keywords: tumour diseases, neuroblastoma, CNS tumours, pheochromocytoma, Ewing's sarcoma, neuroectodermal tumour, comparative genomic hybridization, interphase fluorescence in situ hybridization
|
guest ::
