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Lecturer(s)
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Fencková Michaela, Mgr. Ph.D.
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Course content
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Content of lectures: Molecular basis of genetics (DNA - structure, function, transmission of genetic information - gene to protein, methods of DNA analysis; proteins - structure) Variation in human DNA and methods to analyse it The origin of mutations and DNA repair mechanisms Genes and mutations (types of mutations that affect the coding sequence and their effect on the protein) Non-coding DNA and regulation of translation (organization of mRNA, mRNA splicing, functions of UTR's, and how mutations in these regions affect gene function in health and disease) Non-coding DNA and regulation of transcription (gene promoter and its features, protein-DNA and protein-protein interactions involving transcription factors (TFs), identification of TF binding sites) Higher-order organization of the human genome (DNA packaging and chromatin structure, DNA methylation, histone modifications, pathology caused by changes in chromatin structure) Chromosomes (structure and function, methods to study chromosomes, chromosomal aberrations) Human cells (cell cycle, cell division, cell death and communication in health and disease) Human mitochondrial genome (organization of mtDNA and the variant mitochondrial code, origin of mitochondria and their mutual relationship with the cell, aspects of the inheritance and molecular pathology of mitochondrial disorders) Non-coding RNA (types of ncRNA, their biogenesis, specificity and mode of action, gene expression regulation by miRNAs and lncRNAs, example(s) of diseases caused by mutations in ncRNAs or their target sequences) Content of tutorials/seminar: The lecture series will be closed with a 4-hour seminar where the students will present an E-poster on selected topic of interest from human genetics. The presentation will be evaluated by their peers.
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Learning activities and teaching methods
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- Class attendance
- 30 hours per semester
- Preparation for classes
- 40 hours per semester
- Semestral paper
- 30 hours per semester
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Learning outcomes
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This course deepens the knowledge from genetics, molecular and cell biology in the context of human genetics. It provides information about structure and variation of human genome and its implication for evolution and disease pathology. It also provides an overview of molecular and genetic approaches used for studying of DNA variation, mutations and therapy.
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Prerequisites
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Prerequisites, preconditions: Genetics, Molecular Biology (KBM/250 or equivalent course from former university).
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Assessment methods and criteria
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unspecified
credit: attendance at final seminar, presentation of E-poster at the final seminar exam - written (min. 60 %)
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Recommended literature
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Passarge, Eberhard; Wirth, Jürgen. Color atlas of genetics. 3rd rev. and updated ed. Stuttgart : Thieme: Thieme, 2007. ISBN 978-3-13-100363-8.
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Samuelsson, Tore. The human genome in health and disease : a story of four letters. Boca Raton: CRC Press, Taylor & Francis Group, 2019. ISBN 978-0-8153-4591-6.
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Strachan, T.; Read, Andrew P. Human molecular genetics. Fifth edition. Boca Raton ; London ; New York: CRC Press, Taylor & Francis Group, 2019. ISBN 978-0-8153-4589-3.
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