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Lecturer(s)
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Course content
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Lecture Topics: The First Consultation: The concept of the field (primary and secondary prevention of congenital defects (the VVV), the division of medical genetics department, job counseling and laboratory statistics VVV). The inheritance (genetic information, DNA, RNA, structural and regulatory genes, replication, transcription and translation) Conventional modes of inheritance (genotype, phenotype, homozygous and heterozygous allele status, dominance and recessive, autosomal and gonosomal transfer of genetic information). The Second Consultation: Chromosomes, chromosomal aberrations (autosomes, gonosomy, polysomie, aneuploidy, deletions, duplications, inversions and translocations, mosaics, the most common chromosomal anomalies). Examination methods of medical genetics (genealogy, dif.diagnostika phenotypes, prenatal diagnosis, molecular genetic testing). Prenatal tests (invasive and non-invasive prenatal testing, AMC, CVS, cordocentesis, screening). The prospects of medical genetics, interrelation with other disciplines. Self-Study: Polygenic inheritance (the proportion of environment on the congenital malformations, continuous variability of quantitative characters, relationships, empirical risk, homogamy risks). The most common human genetic diseases (chromosomal syndromes and chromosomal anomalies, malformations by organ systems), presymptomatic genetic diagnosis, assisted reproduction.
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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 designed as theoretical. Students will know the facts about the transfer of genetic information, types of inheritance, formation and prevention of congenital defects, prenatal diagnosis, and the methods of assisted reproduction. One part of the content includes basic sets of genetic defects, the methods of genetic screening and genetic risk assessment including genetic consultancy.
Subject Knowledge: Students have the knowledge about the transmission of genetic information, about the basic types of inheritance, the karyotype of a man, the methods of assisted reproduction, prenatal diagnosis, about the prevention of congenital defects. They can describe the basic genetic diseases. Professional Skills: Students can draw a basic genetical chart, calculate the risk of recurrence in the case of basic types of inheritance (recessive, dominant, sex-linked), understand the karyotype writting, know how to carry out sampling material for genetic testing, and know the principles of prenatal diagnosis.
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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
Controlling test.
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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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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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