Syllabus
Lectures:
Lecturer: Prof. Dr. Emil Rudolf, Ph.D.
Cytogenetics – principles, rules, medically relevant cases (aberrations of chromosomes)
The human genome – structure, function and diseases
Single gene inheritance – pedigrees, rules, examples
Multifactorial inheritance – rules, study methods, examples
Sex determination, genetics of sex development in man and DSDs
Pharmacogenetics and immunogenetics – rules, study methods, examples
Molecular genetic techniques in practical and clinical use
Tumor biology – introduction and basic principles
Practical courses:
Lecturers:
Prof. Dr. Emil Rudolf, Ph.D.
Assoc prof. Vera Kralova, Ph.D.
Cytogenetics, cytogenetic diagnostic methodsTest – lecture Cytogenetics (10 points)Outline and principles of cytogenetic methodologyMicroscopic evaluation of human karyotype mount
KaryotypeTest – progress( theory of Karyotype and methods) (5 points)Karyotyping of human stabilized cells – laboratory (split study subgroups)
Monogenic inheritance (workshop I)Test – lecture Single-gene inheritance (10 points)Pedigree analysis, symbols and rules in select human monogenic traits (physiological and pathological)Examples of mechanisms of inheritance and expression of monogenic traits in man deviating from Mendel´s rules
Basic molecular biology techniques ITest – progress (e-course Methods part I) (5 points)Isolation of DNA from human cells (1st subgroup)Principles of select molecular biology techniques – e-learning (2nd subgroup)
Basic molecular biology techniques IITest – progress (e-course Methods part I) (5 points)Isolation of DNA from human cells (2nd subgroup)Principles of select molecular biology techniques – e-learning (1st subgroup)
Molecular biology methods in medical diagnostics (workshop II)Test – progress (e-course Methods part II) (10 points)Processing and analysis of isolated nucleic acidsExamples of the diagnostic use of molecular methods – interactive workshop
Biological typing in man (workshop III)Test – progress (previous practical class) (10 points)Practical examples of the use of molecular methods for identification of people – interactive workshop
Polygenic and multifactorial genetics (workshop IV)Test – lecture Polygenic and multifactorial inheritance (10 points)Examples of traits and their inheritance – interactive workshop
Tumor biologyTest – preparatory material for the practical class (5 points)Select phenotypical and histopathological features of tumor cells in vitro and in vivo – permanent mountsSporadic, familial and hereditary tumors – occurrence, differences, diagnostics
Population genetics (workshop V)Test – lecture Population genetics (5 points)Introductory concepts - Hardy-Weinberg law – interactive workshop
Summary of genetics course Questions and Answers
Annotation
Human karyotype. Structural and numerical aberration of autosomes. Sexual reproduction, meiosis, abnormalities of gonosomes. X-linked genes, X chromosome inactivation. Genetic manipulations - recombination of DNA, PCR, DNA sequencing. DNA diagnostics. Production of recombinant molecules. Gene therapy. Genetics of multicellular organisms, Mendel's law, Morgan's law. Clinical genetics - inborn errors of metabolism, prenatal diagnosis, genetic counselling. Human genetics - pedigree analysis, siblings, genomics Gene control of immunity, antibodies, monoclonal antibodies. Immunologic tolerance, transplantation immunity. Population genetics - Hardy-Weinberg law - its application and consequences. Evolution of species, evolution of Homo sapiens. Entry requirements: prerequisites: completed Biology I, Anatomy and Histology Outcomes (subject Biology II):
1. student acquires a comprehensive overview of the current state of medical genetics (basic Mendelian genetics – cytogenetics – multifactorial genetics – molecular genetics – population genetics) and its role in modern medicine
2. student acquires practical skills in basic techniques used in molecular genetic laboratory
3. student learns select methodologies used in molecular genetic diagnostics and therapy
4. student will know how to basically interpret results of molecular genetic exams as based on model case reports
