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Lecturer(s)
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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)
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Learning outcomes
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The subject is conceived to be theoretical and it enables students to gain knowledge about genetic information and prevention of congenital defects and to gain understanding of fundamental principles of genetics and principles of inheritance at the molecular, cellular, and whole-organism levels, with a special emphasis on human genetics. The content includes basic sets of genetic defects, genetic screening methods, and evaluation of genetic risks including genetic counselling.
Students understand the basic principles of genetics and can apply the methods of genetic screening.
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Prerequisites
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unspecified
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Assessment methods and criteria
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Oral examination, Written examination
Successful completion of a written test or an oral examination according to the course guarantor's decision.
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Recommended literature
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MAŘÍKOVÁ, T.; SEEMANOVÁ, E. Klinická genetika. Praha: Karolinum, 2013.
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OTOVÁ, B.; MIHALOVÁ, R. Základy biologie a genetiky člověka. Praha: Karolinum, 2013.
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