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The purpose of this lecture is to introduce students to the field of biology, which has tremendously grown particularly during
the recent years. It enables them to relate the most important genetic discoveries of the past to present-day knowledge about cellular processes, biological diversity and evolution. The connections that link transmission genetics and molecular genetics are particularly emphasized. The basic information about methods and techniques used in classical genetics, cytogenetics, molecular genetics and genomics is given as well. The lecture is recommended mainly for the students of the 1st or the 2nd year of the Bachelor study programme in Biology. Last update: Holá Dana, doc. RNDr., Ph.D. (09.06.2023)
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Main references: Klug W.S., Cummings M.R., Spencer C.A.: Concepts of Genetics (8th, 9th ed.). Pearson Education, Inc., Upper Saddle River, NJ, 2006, 2008. Snustad D.P., Simmons M.J.: Principles of Genetics (4th, 6th ed.). John Wiley and Sons, Inc., Hoboken, NJ, USA, 2006, 2011. Russell P.J.: i-Genetics: A Mendelian Approach. Pearson Education, Inc., and Benjamin Cummings, San Francisco, CA, USA, 2006. Griffiths A.J.F., Wessler S.R., Lewontin R.C., Gelbart W.M., Suzuki D.T., Miller J.H.: Introduction to Genetic Analysis (8th ed.). W.H. Freeman and Company, New York, NY, USA, 2005. Supplementary material: Pollard T.D., Earnshaw W.C., Lippincott-Schwartz J.: Cell Biology (2nd ed.). Elsevier, Inc., Philadelphia, PA, USA, 2008 Passarge E.: Color Atlas of Genetics (3rd ed.). Georg Thieme Verlag KG, Stuttgart, Německo, 2007. Last update: Holá Dana, doc. RNDr., Ph.D. (25.08.2013)
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Zkouška je organizována písemnou formou, 2. opravný termín opakovaného zápisu předmětu je ústní zkouška před komisí.
Znalosti požadované ke zkoušce jsou uvedeny vždy na konci prezentací k jednotlivým tématům přednáškového cyklu. Tyto prezentace jsou přihlášeným studentům dostupné na univerzitním serveru Moodle, přístupový klíč je studentům sdělen vždy na začátku přednáškového cyklu.
Zkouškový test má podobu otázek, na něž student musí vypsat odpověď (nejedná se o zaškrtávání správných/nesprávných odpovědí). Test obsahuje celkem 6 otázek, které jsou bodovány podle náročnosti (za jednotlivé otázky je možné získat maximálně 8, 4, 4, 2, 1, 1 bodů, tj. celkem 20 bodů). Klasifikace je následující: 18 a více bodů = výborně, 14-17,5 bodů = velmi dobře, 11-13,5 bodů = dobře, méně než 11 bodů = neuspěl. Celkový čas testu je 75 minut. Last update: Kočová Marie, RNDr., CSc. (25.07.2017)
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Introduction to Genetics Principal terms and definitions of genetics. Main landmarks and experiments in the history of genetics. Fundamental rules of heredity. Probability laws and their usage in genetics, statistical testing of genetic hypotheses. The chromosomal basis of inheritance. The genetic material: DNA and RNA. Genetic nomenclature. Model organisms. Prokaryotic and eukaryotic genome (size, structure and organisation). Chromosomes Principal terms and definitions. Structure and organisation of prokaryotic chromosome. Structure and organisation of eukyryotic chromosome (DNA and protein components, various levels of organisation, visible functional structures of chromosome, location of chromosomes in eukaryotic nucleus). Cell cycle (phases, principles of regulation, main checkpoints). Chromosomes during S-phase of cell cycle. Mitosis (structure and function of mitotic apparatus, changes of chromosomal structure during individual mitotic stages). Meiosis (specific features of the first and the second meiotic divisions). DNA recombination during meiosis and mitosis. Gametogenesis (spermatogenesis and oogenesis in plants and animals). Sex Determination Sexual differentiation and life cycles of selected model organisms. Sex chromosomes and sex-determining genes in various organisms. Sex determination by the sex chromosome/autosome ratio. Genetic balance and dosage compensation of sex chromosomes. Human syndromes associated with the changes of sex-chromosome number. From Gene to Phenotype (Extensions of Mendelian Genetics) Informatory character of DNA (various types of genes and gene products). Elementary structure of prokaryotic and eukaryotic gene. Main characteristics of prokaryotic and eukaryotic gene expression and its regulation. Interactions between alleles of one or more genes, their effect on phenotype. Phenotypic expression as affected by external and internal environment. Effect of parental genotype on phenotype of the progeny. Epigenetics. Extranuclear Inheritance Semi-autonomous genetic systems in eukaryotes (mitochondria, plastids, apicoplast). Endosymbiotic theory of their origin. The exchange of genetic information between nucleus, plastids and mitochondria. Maternal, paternal, biparental inheritance. Heteroplasmy, homoplasmy. Plasmids and episomes in prokaryotes and lower eukaryotes. Infectious heredity. The Dynamic Genome (Mutations, Large-Scale Chromosomal Changes etc.) Causes of mutations (physical, chemical, biological mutagenes). Classification of mutations based on their origin, chromosomal location, cell type, type of molecular change in DNA, phenotypic effects, etc. Detection of mutations, mutagenicity assays. Variation in the structure and arrangement of chromosomes (duplications, deletions, inversions, translocations, multiplication of trinucleotide repeats) and their effect on phenotype. Variation in chromosome number (euploidy, aneuploidy) and their effect on phenotype. Transposable elements in prokaryotic and eukaryotic organisms. Gene mapping Linkage mapping in eukaryotes (principal terms and rules). Determination of the distance between genes and gene sequence in eukaryotic chromosomes. Tetrad analysis and gene-to-centromere mapping. Mapping of human genes. Gene mapping using DNA markers. Linkage mapping in prokaryotes (conjugation, transformation, transduction) and viruses. Physical mapping (principles of cytological mapping, restriction maps, contig maps). Basic Methods and Techniques Used in Genetics Methods used in the classical genetics (analysis of progeny of controlled matings, mutagenesis). Cytogenetical methods. Methods used in the molecular genetics. Genomics (structural, functional, comparative). Practical applications of genetics (human pedigree analysis and counseling, human molecular diagnostics, gene therapy, forensic genetics, transgenic organisms etc.). Quantitative Genetics Principal terms and main historical landmarks of quantitative genetics. Statistical parameters used in the analysis of quantitative traits. Heritability and methods of its estimation. QTL and candidate genes, methods of their study. Population Genetics Variation in populations and its modulation in time and space (relationships between allele and genotype frequencies). Hardy-Weinberg equilibrium and its changes (mutation, recombination, migration, selection, genetic drift, nonrandom mating, inbreeding, effective population size etc.). Genetic diversity of populations. Last update: Holá Dana, doc. RNDr., Ph.D. (25.08.2013)
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