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Prenatal diagnostics of cystic fibrosis and diseases associated with trinucleotide expansions - teaching at secondary schools
Nováková, Stanislava ; Ehler, Edvard (advisor) ; Pavlasová, Lenka (referee)
Cystic fibrosis and diseases associated with trinucleotide expansions are serious hereditary disease that serves in my Diploma thesis as role models suitable for teaching interesting topics of human genetics at secondary schools. By using appropriate methods of prenatal genetic treatment, it is possible to make a diagnosis of the developing fetus and to determine a corresponding prognosis in next prenatal and postnatal development in families at risk. The practical part of the thesis is devoted to the content analysis of biology schoolbooks for secondary schools and to the preparation of a prototype class of genetics at secondary schools. The aim of the content analysis of biology schoolbooks for secondary schools is the evaluation of various textbooks according to several preselected criteria. The aim of the presentation of the proposed prototype class was to determine, based on the responses obtained from the questionnaires, whether pupils of higher grades of secondary schools are interested in the subject matter of genetics, to find out what engaged their attention the most during the lessons or what they did not understand and what they considered as difficult. The lesson was conducted as a specialized seminar, the teaching method was a lecture. From the selected biology schoolbooks for...
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Inherited corneal disorders: options for early detection, influencing the onset and progression.
Skalická, Pavlína ; Lišková, Petra (advisor) ; Netuková, Magdaléna (referee) ; Vlková, Eva (referee)
Introduction: The development of molecular genetic methods has in many fields necessitated their inclusion in routine clinical practice, including ophthalmology. The main aim of this thesis was detailed clinical characterization of Czech patients with suspected inherited corneal disorders, followed by genetic testing to determine or specify their clinical diagnosis and subsequently to use the knowledge gained in clinical and genetic counselling and to apply preventive measures in order to avoid loss of vision. Material and Methods: Individuals included in this research were either followed up or newly referred to the Cornea clinic of the Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague. Detailed clinical examination included corneal tomography, specular microscopy, spectral domain optical coherence tomography, biometry and genealogical analysis. DNA was extracted from peripheral blood leucocytes or buccal cells. Disease-causing variants were searched for using Sanger or massively parallel sequencing, variant pathogenicity was assessed in silico using various algorithms and by segregation analyses within the families. In some cases assessment of the functional impact on the pre-mRNA splicing process was performed. In patients with...
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