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Lecturer(s)
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Gančarčíková Markéta, Mgr.
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Course content
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Genetics and its role in medicine. Basic terminology in genetics. Embryo development: genetic aspects. Autosomal dominant inheritance. Autosomal recessive inheritance. Sex-linked inheritance. Multifactorial threshold model. Clinical cytogenetics. Genetic examination in obstetrics. The most frequent genetic handicaps. Biochemical screening for developmental defects. Non-invasive diagnostic methods to detect developmental defects. Invasive prenatal diagnostics to detect developmental defects. Foetal therapy. Genetic counselling.
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Learning activities and teaching methods
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Monologic (reading, lecture, briefing), Dialogic (discussion, interview, brainstorming), Work with text (with textbook, with book)
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Learning outcomes
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The aim of the course is to gain knowledge about genetic information, about prevention of congenital defects, understanding the basic principles of genetics, principles of inheritance at the level of molecules, cells and organisms, with a particular emphasis on human genetics. The content includes basic sets of genetic defects, methods of genetic screening and evaluation of genetic risks, including genetic counselling.
Students are familiar with the basic issues of genetics and its role in medicine and midwifery.
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Prerequisites
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unspecified
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Assessment methods and criteria
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unspecified
Completion of a written test or oral examination according to the course guarantor's decision.
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Recommended literature
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KOČÁREK, E. Genetika. Praha: Scientia, 2008.
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LOUCKÝ, J., SPRINGER, D., ŠUBRT, I. Doporučení o laboratorním screeningu vrozených vývojových vad v prvním. Klin. Biochem. Metab, 2015.
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MARDEŠIČ, T. a kol. Diagnostika a léčba poruch plodnosti. Praha: Grada, 2013.
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OTOVÁ, B. kol. Lékařská biologie a genetika I. díl. Praha: Karolinum, 2008.
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OTOVÁ, B.; MIHALOVÁ, R. Základy biologie a genetiky člověka. 1. vyd. Praha: Karolinum, 2013.
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PRITCHARD, D. J., KORF, B. R. Základy lékařské genetiky. Praha: Galén, 2007.
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