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Lecturer(s)
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Stříbrná Lucie, Mgr. Ph.D.
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Mrňáková Hana, Mgr.
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Gančarčíková Markéta, Mgr.
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Course content
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Safety at work. Prenatal diagnostics - preparation and evaluation of cytogenetic preparations (amniotic fluid, chorionic tissue). Evaluation of findings, differential diagnosis, correlation with ultrasound findings. Postnatal diagnostics - preparation and evaluation of preparations (peripheral blood). Evaluation of findings, differential diagnosis (use of molecular diagnostics). Oncogenetics - cultivation and processing of bone marrow cells, latest applications. Correlation of findings with diagnosis and prognosis. Oncogenetics and treatment monitoring. Cultivation and processing of peripheral blood lymphocytes for the determination of acquired chromosomal aberrations (ACAs). Use of cytogenetic methods in occupational medicine. Chromosomal instability syndromes. Chromosome staining and banding techniques and their use in clinical practice. Molecular cytogenetic methods: fluorescence in situ hybridization (FISH), arrayCGH, latest trends. Use of methods for differential diagnosis and selection of appropriate methodology. Clinical genetics - evaluation of the karyotype, correlation of laboratory findings with the clinical picture and medical history. Quality control in the cytogenetic laboratory - internal audits, interlaboratory quality control, international quality assurance programs. Legislation and ethics, model situations in practice. Pedigrees. Examples from population genetics. Hardy-Weinberg equilibrium.
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Learning activities and teaching methods
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Laboratory work
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Learning outcomes
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The practical laboratory exercise is the key - cytogenetic and molecular cytogenetic methods, their application in practice. Furthermore, the focus on practice in the differential diagnosis of genetic diseases. Exercise is a laboratory model, the treatment model, view selected microscopic preparations. Laboratory exercise reflects the current status in clinical genetic and the current level of knowledge in this area. The issue of clinical genetics and genetics in the health service.
Students govern basic cytodiagnostic imaging techniques and basic methods used in molecular biology laboratories.
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Prerequisites
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unspecified
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Assessment methods and criteria
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Home assignment evaluation
Credit is granted after all laboratory tasks, the development of appropriate protocols.
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Recommended literature
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Kočárek, Eduard. Klinická cytogenetika I : vyšetřovací metody v klinické cytogenetice.. Praha: Karolinum, 2006. ISBN 80-246-1069-8.
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KOČÁREK, Eduard, Martin PÁNEK a Drahuše NOVOTNÁ. Klinická cytogenetika I.: úvod do klinické cytogenetiky, vyšetřovací metody v klinické cytogenetice.. Praha, 2010. ISBN 80-246-1880-7.
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KOTLAS, Jaroslav, et al. Návody a úkoly k praktickým cvičením z lékařské biologie a genetiky.. Praha, 2000. ISBN 80-246-0065-X.
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Kotlas, Jaroslav. Návody a úkoly k praktickým cvičením z lékařské biologie a genetiky. Praha: Karolinum, 2005. ISBN 80-246-0065-X.
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