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Lecturer(s)
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Course content
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Lecture Topics: 1. week: The conception of the field (primary and secondary prevention of inborn developmental defects (congenital defects), medical genetical workplace, the activities of the consultancy offices and laboratories, the statistics on congenital defects) 2. week: The essence of inheritability: genetic information, DNA, RNA, structural and regulatory genes, replication, transcription and translation, genetic code, mutation 3. week: Traditional types of inheritability (genotype, phenotype, homozygous and heterozygous state of alleles, dominance and recessivity, autosomal and gonosomal transfer of genetic information), uniparental disomia 4. week: Polygenic inheritability (the involvement of factors of the environment on the creation of congenital defects, fluent variability of attributes of a quantitative character, family relationships, empiric risks, risks of homogamy), mitochondrial inheritability 5. week: Chromosomes, chromosomal aberration (autosomia, gonosomia, polysomia, aneuploidia, deletion, duplication, inversion and translocation, mosaic, most common chromosomal congenital defects), examination of a caryotype 6. week: Examination methods medical genetics (genealogy, dif.diagnostics of fenotypes, prenatal diagnostics, molecular genetic al examination), sampling of material for genetical examination 7. week: Most common genetically - conditioned disorders (the syndrome of congenital chromosomal and non-chromosomal defects, congenital defects in organ systems, predictive genetical diagnostics) 8. week: Prenatal examination (embryogenesis, invasive and non-invasive prenatal examination, AMC, CVS, cordocentesis, screening examination, ultrasound, MR of a foetus) 9. week: The perspectives of medical genetics (DNA diagnostics, cooperation with other fields, assisted reproduction, gene therapy)
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Learning activities and teaching methods
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unspecified
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Learning outcomes
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The subject is theoretical; it develops students' understanding of genetic principles, the principles of inheritability on a molecular level, the level of cells and organisms with a special focus on human genetics. Students will get the knowledge about transmitting genetic information, the types of inheritance, the origin and prevention of inborn developmental disorders, prenatal diagnostics, the methods of assisted reproduction. One part of the subject also covers the basic groups of genetical disorders, the methods of genetical screening and evaluation of genetical risks including genetical advising.
Subject Knowledge: Students have the knowledge of genetic information transmission, the types of inheritability, a human caryotype, the methods of assisted reproduction, prenatal diagnostics, the types and prevention of inborn developmental defects. The are able to describe basic genetical diseases. Professional Skills: Students are able to draw a basic family tree scheme, calculate the risk of repetition in case of basic types of inheritability (recessive, dominant, sexually bind), understand the way of recording the caryotype, sampling of the material for genetical examination, know the principle, the possibilities and indications of prenatal diagnostics.
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Prerequisites
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Conditional subject was not determined
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Assessment methods and criteria
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unspecified
Final test with the duration of approximately 45 minutes
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Recommended literature
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Dorian J., et al. Základy lékařské genetiky.. Praha: Galén, 2007. ISBN 978-80-7262-449-2.
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HÁJEK, Z. a kol. Základy prenatální diagnostiky. Praha: Grada, 2000. 423 s. ISBN 80-7169-391-X. Praha, 2000. ISBN 80-7169-391-X.
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KOHOUTOVÁ, Milada, et al. Lékařská biologie a genetika II. díl. 1. vydání. Praha: Karolinum, 2012. 202 s. ISBN 978-80-246-1873-9..
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NUSSBAUM, R.; MCINESS, R., R.; WILLARD, H., F. Klinická genetika. Praha: Triton, 2004. 426s. ISBN 80-7254-475-6.
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OTOVÁ, Berta, et al. Lékařská biologie a genetika I. díl. 1. vydání. Praha: Karolinum, 2008. 123 s. ISBN 978-80-246-1594-3..
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ŘEHOUT, V., ČÍTEK, J., HRÁDECKÁ, E. Genetika. 2. 1. vyd., České Budějovice: Jihočeská univerzita - zemědělská fakulta, 2005. 189 s. ISBN 80-7040-774-3..
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SRŠEŇ, Š., SRŠŇOVÁ K. Základy klinickej genetiky a jej molekulárna podstata. Martin: Osveta, 1999..
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THOMPSON, J. THOMPSON, M. NUSSBAUM, R, et al. Klinická genetika: Thompson & Thompson. Praha: Triton, 2004. ISBN 80-7254-475-6.
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