| Název předmětu | Fundamental Human Genetics |
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| Kód předmětu | KMB/932 |
| Organizační forma výuky | Přednáška + Seminář |
| Úroveň předmětu | Magisterský |
| Rok studia | nespecifikován |
| Četnost výuky | In each academic year, in the summer semester. |
| Semestr | Letní |
| Počet ECTS kreditů | 4 |
| Vyučovací jazyk | angličtina |
| Statut předmětu | Povinně-volitelný |
| Způsob výuky | Kontaktní |
| Studijní praxe | Nejedná se o pracovní stáž |
| Doporučené volitelné součásti programu | Není |
| Dostupnost předmětu | Předmět je nabízen přijíždějícím studentům |
| Vyučující |
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| Obsah předmětu |
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Content of lectures: The course is divided in the following topics that will be covered in 13 lectures. Phylogenetic tree of life and human evolution from genetic perspective Molecular basis of genetics (DNA structure and function, genetic code, replication, transcription and translation, posttranscriptional and post-translational processing, protein structure) DNA variability and analysis Mutations and DNA repair mechanisms, transposons, trinucleotide repeats and their importance in human evolution and medicine Non-coding DNA and regulation of transcription (introns, RNA editing, DNA-protein interaction, enhancers) Cell cycle, cell death and cell communication in health and disease Mendelian inheritance, phenotype vs genotype and its use in genetic counselling (allele segregation, monogenic inheritance, gene linkage and association analysis, quantitative genetic traits and distribution of alleles in population, twin studies) Chromosome structure (functional domains, chromatin architecture) and its analysis (karyotype, labelling, visualization, incl. G-banding and FISH), chromosomal aberrations and translocations RNA (mRNA, rRNA, tRNA, non-coding RNAs, enzymatic roles of RNA, pathology of RNA-associated mutations, therapeutic prospectives of RNAs, eg. RNAi, antisense oligos etc.) Epigenetics (DNA methylation, histone modifications and chromatin remodelling), its implication for cell renewal and proliferation = stem cells and human disease (chromatinopathies) Human reproduction, imprinting and embryonic development Human mitochondrial genome Genomics, human genome sequence, architecture, and dynamics 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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| Studijní aktivity a metody výuky |
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| Výstupy z učení |
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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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| Předpoklady |
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Prerequisites, preconditions: Genetics, Molecular Biology (KBM/250 or equivalent course from former university).
KMB/250 a zároveň KMB/240 |
| Hodnoticí metody a kritéria |
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nespecifikováno
credit: attendance at final seminar, presentation of E-poster at the final seminar exam - written (min. 70 %) |
| Doporučená literatura |
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| Studijní plány, ve kterých se předmět nachází |
| Fakulta | Studijní plán (Verze) | Kategorie studijního oboru/specializace | Doporučený semestr |
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