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Lecturer(s)
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Course content
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Lecture Topics: 1. Conception and organization of medical genetics (division of the workplace of medical genetics, work of counseling and laboratory, statistics of hereditary diseases and congenital defects). Primary and secondary prevention of hereditary diseases and congenital malformations. 2. Basic genetic terms (gene, genotype, phenotype, genome, chromosome, genophore, gene pool). Structure of nucleic acids and chromosomes. Basic genetic processes (replication, transcription, translation). 3. Basic types of inheritance. Principle of segregation and combination of talents. Recombination and gene binding. Quantitative trait inheritance. Human genetics. 4. Mutagenesis, teratogenesis, carcinogenesis. Gene mutations and chromosomal aberrations in humans. 5. Examination methods of medical genetics (genealogy, twin analysis, differential diagnosis of phenotypes, prenatal diagnostics, cytogenetic and molecular-genetic examinations). The most common hereditary diseases (manifestations, diagnostics, screening, prevention). 6. The most common congenital defects (manifestations, diagnostics, screening, prevention). Perspectives of medical genetics (predictive DNA diagnostics, cooperation with other disciplines, assisted reproduction). Ethical and Legal Aspects of Medical Genetics.
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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 conceived as theoretical. Students will become basic knowledge not only from general genetics (principle of segregation and combination of talents, gene binding and recombination, basic genetic processes - replication, transcription, translation and their regulation, mutagenesis, teratogenesis and carcinogenesis, genetic processes at the population level) but from the area of human genetics and medical genetics (conception and organization of medical genetics in the Czech Republic, genetic counseling, prenatal diagnostics, genetic screening, genetic risk assessment, methods of assisted reproduction, hereditary diseases and congenital malformations) too.
Expertise: The student demonstrates the knowledge about the transfer and expression of genetic information, about the basic types of heredity, about the normal karyotype of a man and its deviations, about the methods of prenatal diagnostics and assisted reproduction, about the most common hereditary diseases and congenital defects and about their prevention. Professional skills: The student is able to construct a family tree diagram and analyze the family tree, write a karyotype, calculate the risk of affection by a simple (monogenic) based hereditary disease in case of basic types of heredity (recessive, dominant, sexually bound). General competences: The student is able to apply the acquired theoretical knowledge becoming by the study of other specialized subjects and apply them in practice.
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Prerequisites
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unspecified
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Assessment methods and criteria
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unspecified
Continuous verification of knowledge during academic year (tests, tasks). Credit test (combination of open and close questions) with time limit for elaboration 45 minute.
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Recommended literature
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BRDIČKA, R., DIDDEN, W. Genetika v klinické praxi I. Praha: Galén, 2014. 126 s. ISBN 978-80-7492-106-3.. ISBN 978-80-7492-1063.
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BRDIČKA, R., DIDDEN, W. Genetika v klinické praxi II. Praha: Galén, 2015. 192 s. ISBN 978-80-7492-182-7.
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BRDIČKA, R., DIDDEN, W. Genetika v klinické praxi III. Praha: Galén, 2014. 189 s. ISBN 978-80-7492-226-8.
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BRDIČKA, R., DIDDEN, W. Genetika v klinické praxi IV. Praha: Galén, 2016. 210 s. ISBN 978-80-7492-106-3.
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FORETOVÁ, L. et al.:. Molekulární genetika v onkologii. Praha: Mladá fronta (Aeskulap), 2014. 184 s. ISBN 978-80-204-3236-0.
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IPSER, J.:. Základy genetiky. Ústí nad Labem: UJEP, 2005. s. 196. ISBN 80-7044-707-9. ISBN 80-7044-707-9.
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KOHOUTOVÁ, M. et al.:. Lékařská biologie a genetika II. díl. 1. vydání. Praha: Karolinum, 2012. 202 s. ISBN 978-80-246-1873-9.. ISBN 978-80-246-1873-9.
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OTOVÁ, B. 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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PRITCHARD, D. J., KORF, B. R. Základy lékařské genetiky. 1. vydání. Praha: Galén, 2007. 182 s. ISBN 978-80-7262-449-2.
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SLABÝ, O. et al. Molekulární medicína. Praha: Galén, 2015. 598 s. 978-80-7492-121-6.
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SNUSTAD, D. P., SIMMONS, M. J. Genetika. Brno: MU, 2009. 871 s. ISBN 978-80-210-4852-2..
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SRŠEŇ, Š., SRŠŇOVÁ, K. Základy klinickej genetiky a jej molekulárna podstata. 4. vydání. Martin: Osveta, 2005. 446 s. ISBN 80-8063-185-0.
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ŠKVOR, J., PRŮHOVÁ, Š. Základy klinické genetiky pro pediatrickou praxi. Praha: Mladá fronta, 2014. 72 s. ISBN 978-80-204-3413-5.
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ŠMARDA, J. et al. Biologie pro psychology a pedagogy. 3. aktualizované vydání. Portál, 2013 ISBN 978-80-262-0192-2.
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