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Last update: Jana Kolářová (31.01.2020)
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Last update: Jana Kolářová (05.10.2020)
Biology and genetics-introduction. Mendelian inheritance in man. Genetics of Prokaryotes an Eukaryotes-comparison. Cell cycle and its regulation. Molecular genetics. Oncogenetics. Medical genetics. Practical training Introduction. Mono and dihybridism, phenotypic ratios. Genetics of ABO, MN and Rh systems. Genealogy, pedigree chart, types of inheritance in pedigrees, examples of monogenic disorders in men Mitosis, human karyotype, cytogenetic analysis. Meiotic division, chromosome segregation, non disjunction, virtual microscopy. Numeric and structural chromosomal aberrations-syndromes. Gene linkage, polygenic inheritance. Population genetics, CHW formula, small population, genetic drift. Molecular genetics I. Molecular genetics II. Examples of DNA diagnostics. Immunogenetics, transplantation principles,genetics of HLA and Rh systems. Ontogenesis, examples from genetics of congenital defects, teratogenesis. Examples of familial tumors, molecular genetics of oncogenes and tumor suppressor genes. Principles of genetic consultation, risk assessment, indications of preventive methods.
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Last update: KOT02392 (03.01.2014)
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Last update: KOT02392 (27.08.2008)
For the first practical training the students are asked to come to the seminary room of the Institute of Biology and Medical Genetics, Prague 2, Albertov 4 ("Purkyňův ústav"), ground floor to the right. Necessities: 1. textbook: Křenová, D., Otová, B.: How to practise biological and medical genetics. Charles University in Prague, The Karolinum Press, Prague 2003; 2. notepad (blank, A4 format recommended). |
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Last update: KOT02392 (16.11.2014)
1. Genotype and its variability, mutation, recombination Genetic control of antibody production Prevention and early diagnostics of congenital anomalies
2. Genotype and environment Mitosis, its regulation and defects The inheritance and biological importance of blood group systems
3. Methods of genetic analysis in experimental and human genetics Structure and reproduction of bacteria, importance for medicine The inheritance and biological importance of Rh system
4. Fundamental laws of genetics, Mendel's experiments Cell cycle, its regulation and defects Human major histocompatibility complex
5. Genealogy method DNA - structure and function Immunocompetent cells
6. Autosomal dominant inheritance in experiment and pedigrees, examples of human traits RNA - types, structure and function Genetic control of immune response
7. Autosomal recessive inheritance in experiment and pedigrees, examples of human traits Gene structure and function Transplantation rules
8. Gonosomal inheritance in experiment and pedigrees, examples of human traits DNA replication Detection and prevention of chromosomal aberrations
9. Multifactorial inheritance Genetic code Indication of chromosomal analysis
10. Human traits with multifactorial inheritance Protein-coding and non-coding DNA sequences Genetics of transplantations, transplantation rules, histocompatibility systems 11. Heritability and significance of its assessment in medicine Translation, post-translational protein modifications Syndromes of autosomal aneuploidies
12. Dihybridism, interaction of non-allelic genes, polyhybridism Transcription and post-transcriptional modifications of RNA in Eukaryotes Environmental mutagenic and teratogenic factors
13. Multiple alleles Genetics of aging and death Aims and mission of medical genetics
14. Genetic linkage Regulation of gene function in Prokaryotes Preconception prevention of congenital anomalies and genetic disorders
15. Genetic methods of linkage analysis Gene mutation, types and manifestation Tumorigenesis, cancerogenesis, cancerogens
16. Crossing-over, its mechanism and importance Regulation of gene function in Eukaryotes Genetic screening
17. Molecular basis of heritable disease Somatic and gametic (germline) chromosomal aberrations Genetic counseling and its importance
18. Chromosomal aneuploidies Mutagens a mutagenesis, testing of mutagenicity Characteristics of cancer development
19. Extrachromosomal inheritance, non-Mendelian inheritance Reparation mechanisms of nucleic acids Ethical and legal aspects of medical genetics
20. The importance and structure of Eukaryotic chromosomes The inborn errors of metabolism Population genetics, C-H-W equilibrium
21. Population polymorphisms and their causes Methods of nucleic acids analysis Chromosomal aberrations in etiology of neoplasia
22. Inbreeding, consanguineous marriage and its risks Chromosome number and structure, techniques of examination Ontogenesis of sex in mammals and its defects
23. Prenatal diagnostics of congenital anomalies Transcription and post-transcriptional modifications of RNA in Prokaryotes Teratogenesis, teratogens
24. Small populations - genetic drift, importance for evolution Haemoglobinopathies Inherited diseases of development in man, examples, partition according to causes
25. Meiosis, its regulation and defects Conjugation, transformation, transduction Reparation mechanisms of the organism and their genetic control
26. Gametogenesis Direct and indirect diagnostics of genetic disorders by nucleic acid analysis Causes of chromosomal aberration
27. Genealogical methods The importance and structure of chromosomes of Prokaryotes Prenatal diagnostics
28. Human karyotype, methods of its examination Structure and function of Eukaryotic cell Characteristics of cancer cells
29. Aberrations of chromosome number, their causes and clinical presentation Cell signaling pathways Familial tumors
30. Syndromes of gonosome aneuploidies Tumor-supressor genes Structure and function of Prokaryotes
31. Aberrations affecting chromosome structure Protooncogenes, oncogenes Cultivation of cells and tissues in vitro, importance in medicine
32. Chromosomal sex determination Genetic regulation in multicellular organisms Prenatal screening of congenital anomalies |