General Biology – Part I: Biology 2014 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. 23. 24. 25. 26. 27. 28. 29. 30. 31. 32. 33. 34. 35. 36. Viruses – life cycle and molecular biology Cellular defence mechanisms against viral infections Comparison of eukaryotic and prokaryotic cells, with a special emphasis on structure of a typical eukaryotic and prokaryotic gene and its expression Consequences of allogeneic transplantations Proteins – basic structural organization (primary to quaternary), domain structure of proteins and its examples Nucleic acids - basic structural organization (primary to tertiary), differences and similarities between DNA and RNA Nonsense-mediated decay – relevance for human diseases Two basic functions of mitochondria Autophagy Biomembranes – basic structure, properties and functions Transport across biomembranes Intestinal glucose absorption - basic transport mechanisms Cellular motility Cytoskeletal systems Protein folding, molecular chaperones and reaction of cells on protein misfolding and endoplasmic reticulum stress Molecular motors and intracellular transport Principles of vesicular transport Interferons Cell nucleus – structure and function; why is it problematic to hold that cell nucleus contains chromosomes? Mitochondria – structure and function; what aspects indicate the prokaryotic origin of mitochondria? Endoplasmic reticulum and Golgi complex – structure and function Intracellular degradative processes; two basic compartments of protein degradation in the cell Ribosomes – structure, function and biogenesis Cell cycle and its regulation Intrinsic and extrinsic pathway of apoptosis initiation Mitosis - relevance, course of basic events, and possibilities of pharmacologic interventions DNA replication and possibilities to reproduce it in vitro Transcription - basic outlines, relevance and regulation, differences between prokaryotic and eukaryotic transcription Pre-mRNA processing and splicing, alternative splicing – relevance and perturbance of splicing due to mutations. Examples. Cyclins and CDKs Translation and posttranslational modifications, genetic code Non-coding regulatory RNA Gene expression – regulation in prokaryotes Gene expression – regulation in eukaryotes Extracellular matrix - composition, relevance, receptors for extracellular matrix Make a schematic drawing of a typical signal transduction pathway 37. 38. 39. 40. 41. 42. 43. 44. 45. 46. 47. 48. 49. 50. 51. 52. 53. 54. 55. Cellular response to DNA damage - basic molecular mechanisms Cell death - basic two types and their comparison on morphological and molecular level Cell aging; what are the differences between normal stem and differentiated cells and cancer cells? Antibodies - basic structure and principles of generation of antibody diversity Make a schematic drawing of a typical human protein coding gene Signal transduction - basic types of signal Signal transduction - kinases and phosphatases. Second messengers and G-proteins T- a B-lymphocyte interaction during the antibody synthesis and its malfunction in genetic diseases of immunity Cell and tissue cultures - basic types Plasmids and gene cloning, recombinant proteins Antigen presentation (MHC restriction) Multidrug cancer resistance Steroid hormones, their signal transduction and malfunction in human diseases Three basic immunologic differences between blood group systems AB0 and Rh Negative feedback in signal transduction and DNA damage response pathways examples Polymerase chain reaction and its importance in medicine Caspases Stem cells and cancer stem cells Identification and clearance of apoptotic cells and apoptotic bodies and its malfunction in human diseases Literature: Goldman SR: Medical Cell Biology, 3rd ed., Elsevier 2008 General Biology – Part II: Genetics 2014 1. 2. 3. 4. 5. 6. 7. 8. 9. 10. 11. 12. 13. 14. 15. 16. 17. 18. 19. 20. 21. 22. 23. 24. 25. 26. 27. 28. 29. 30. 31. 32. 33. 34. 35. 36. 37. History of genetics Non-coding regions of eukaryotic genes and examples of functionally relevant mutations within them Human genome - size and structure Why it is not always true: one gene → one protein → one trait? Chromosome structure and basic methods of chromosome analysis Autoimmune disease – examples, genetics and molecular biology Microsatellites and their exploitation in human genetic mapping studies and DNA diagnostics Gene interactions and allelic interactions Gene linkage and its use for gene mapping. What is the main difference in expressing a genetic distance in experimental organisms and in man? Basic types of mutation distinguished by a molecular mechanism of mutation Basic types of mutation distinguished by an impact on mutated protein function Basic types of mutation distinguished by location of a mutation within genes Genetic predisposition to cancer Chromosomal mutations Germinal and somatic karyotypic changes Mendel’s laws and examples of their non-validity Monogenic diseases - criteria for distinguishing basic types of inheritance in pedigrees Complex diseases and heritability Sex-related inheritance Dominant diseases - examples of pedigrees and types of mutations that may underlie them Recessive diseases - examples of pedigrees and types of mutations that may underlie them DNA diagnostics. Sources of potential errors in indirect DNA diagnostics. Diseases due to structural heamoglobin changes - examples, genetics and molecular biology Allelic heterogeneity - examples Relevance and basic types of DNA polymorphisms Gametogenesis, comparison of spermatogenesis and oogenesis. Why parthenogenesis is not possible in mammals? Genetic determination of sex, basic molecular processes Fertilization, basic molecular processes Meiosis - course and relevance. Describe meiosis using the variables C and n Nondisjunction and its consequences Genetics and molecular biology of ontogenesis, homeoboxes and homeotic genes Phenocopy and genotype-environment interactions - examples Hardy-Weinberg law and processes changing allelic frequences What are the main differences in the contribution of egg and sperm to the zygote? Basic principles of pedigree drawing and its significance in medicine Twin studies and its importance in medical genetics Risk assessment and genetic prognosis. In what circumstances would genetic prognosis be preferred over DNA diagnostics? 38. 39. 40. 41. 42. 43. 44. 45. 46. 47. 48. 49. 50. 51. 52. 53. 54. 55. Penetrance and expressivity - examples and possible underlying mechanisms Inbreeding and its genetic consequences. Can we use inbreeding in experimental animal models? Genetic heterogeneity - how could it be identified in human genetic diseases? Cite examples. Thalassaemias – classification, genetics, types of mutations, and molecular biology Oncogenes, proto-oncogenes and types of mutations found in them in tumours Immunogenetics and histocompatibility antigens Blood groups and their genetic determination Structure of haemoglobin, globin genes, their organization and regulation, regulation of haemoglobin synthesis during development Epigenetics - types, biological mechanisms and relevance of epigenetic changes Gene dosage compensation Model organisms in genetic analysis. Inbred mouse and rat strains, transgenic organisms. Heterozygotic advantage, sickle cell anemia and balanced polymorphism Loss of heterozygosity Modifyier genes - examples in human genetics or animal models Linkage disequilibrium Sources of phenotypic variability of genetic diseases Somatic mutagenesis Tumour suppressor genes and types of mutations found in them in tumours Literature: Pritchard DJ, Korf BR: Medical Genetics at a Glance, Blackwell Science 2003, 2006 Mange AP, Mange EJ: Genetics: Human Aspects, Sinauer 1990