Poslední úprava: Jana Kolářová (31.01.2020)
Poslední úprava: Jana Kolářová (05.10.2020)
Biology and genetics-introduction. Mendelian inheritance in man.
Genetics of Prokaryotes an Eukaryotes-comparison.
Cell cycle and its regulation.
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.
Poslední úprava: KOT02392 (03.01.2014)
Poslední úprava: 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.
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).
Poslední úprava: 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
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
8. Gonosomal inheritance in experiment and pedigrees, examples of human traits
Detection and prevention of chromosomal aberrations
9. Multifactorial inheritance
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
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
24. Small populations - genetic drift, importance for evolution
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
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
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
30. Syndromes of gonosome aneuploidies
Structure and function of Prokaryotes
31. Aberrations affecting chromosome structure
Cultivation of cells and tissues in vitro, importance in medicine
32. Chromosomal sex determination
Genetic regulation in multicellular organisms
Prenatal screening of congenital anomalies