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Lecturer(s)
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Hrubá Martina, RNDr. Ph.D.
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Course content
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1. History of clinical genetics. J. G. Mendel - Mendel's laws. Genotype, phenotype, allele, homozygote, heterozygote, dominance, recessiveness. 2. Types of genetically determined diseases. Monogenic genetic diseases (with autosomal, gonosomal inheritance), diseases with hereditary disposition (polygenic diseases), chromosomal syndromes. 3. Variants in DNA sequence/copy number: mutations, polymorphisms. Types of variants and molecular mechanisms of their occurrence. 4. Monogenically inherited diseases, molecular and biochemical basis. The most common monogenic diseases in Central Europe and globally. Carrier screening. 5. Heritability, expressivity, penetrance, gene linkage, cross-over, gene map, trait association. 6. Individual genetic variations, polymorphisms and their use in medical genetics. 7. Genetic variation in populations, allele and genotype frequency, Hardy-Weinberg law. 8. Genealogical, gemellilogical, population research. 9. Variability and methods of its evaluation. 10. Polygenic and multifactorial inheritance, congenital developmental defects. 11. Basics of cytogenetics: structure of human chromosomes, normal and aberrant karyotype, balanced and unbalanced aberrations. Types of chromosome aberrations and mechanisms of their origin. 12. Congenital chromosome syndromes with numerical aberrations. Microdeletion and microduplication syndromes. Reproductive disorders in carriers of balanced chromosome aberrations. 13. Clinical genetics in practice - genetic counselling, preimplantation, prenatal and postnatal genetic diagnostics. 14. Genetic basis of cancer. Hereditary cancer syndromes and sporadic cancer. Congenital (germline) vs. acquired (somatic) mutations. Chromosomal aberrations in cancer cells (oncocytogenetics). 15. Immunogenetics and its clinical significance. Pharmacogenetics, hereditary variable response to drugs.
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Learning activities and teaching methods
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Lecture
- Contact hours
- 30 hours per semester
- Preparation for comprehensive test (10-40)
- 8 hours per semester
- Preparation for an examination (30-60)
- 20 hours per semester
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| prerequisite |
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| Knowledge |
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| to describe cell organelles at the cellular and subcellular level |
| Skills |
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| to master the basic terminology of cellular and molecular biology |
| Competences |
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| N/A |
| learning outcomes |
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| Knowledge |
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| explains the basic laws of heredity and variability and relates these laws to current knowledge of the genome and its functioning |
| describes in detail the transmission of genetic information at the molecular and cellular level, as well as at the individual and population level |
| Skills |
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| draws conclusions for application in the field of clinical genetics |
| interprets pathological processes and structures manifested by hereditary diseases |
| Competences |
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| N/A |
| teaching methods |
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| Knowledge |
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| Lecture supplemented with a discussion |
| Skills |
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| Seminar |
| Competences |
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| Lecture supplemented with a discussion |
| Seminar |
| assessment methods |
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| Knowledge |
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| Test |
| Oral exam |
| Skills |
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| Oral exam |
| Competences |
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| Oral exam |
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Recommended literature
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KOHOUTOVÁ, Milada a kol. Lékařská biologie a genetika II. díl. 2. vydání.. Praha: Karolinum, 2017. ISBN 978-80-246-3790-7.
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NUSSBAUM, Robert L., Roderick R. MCINNES, Huntington F. WILLARD, James THOMPSON a Margaret Wilson THOMPSON. Klinická genetika. Thompson & Thompson : 6. vyd.. Praha: Triton, 2004. ISBN 80-7254-475-6.
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OTOVÁ, Berta, Romana MIHALOVÁ A Klára BOBKOVÁ. Základy biologie a genetiky člověka. Vydání druhé.. Praha: Karolinum, 2020. ISBN 978-80-246-4565-0.
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PANCZAK Aleš a Berta OTOVÁ. Lékařská biologie a genetika (III. díl).. Praha: Karolinum, 2020. ISBN 978-80-246-4452-3.
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SNUSTAD, D. Peter a Michael J. SIMMONS. Genetika. Druhé, aktualizované vydání. RELICHOVÁ, Jiřina (ed.). Brno: Masarykova univerzita, 2017. ISBN 978-80-210-8613-5.
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