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Lecturer(s)
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Poul Miloš, MUDr. Ph.D.
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Bílková Martina, RNDr.
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Charvát Michal, Mgr.
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Course content
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Lectures 1. Basic concepts of medical genetics. 2. Collection, processing and cultivation of material for cytogenetic examination. Staining techniques in classical cytogenetics and molecular cytogenetics. 3. FISH and advanced methods of molecular cytogenetics (mFISH, CGH, aCGH). 4. Cytogenetic methods in the evaluation of the human constitutional karyotype. 5. Cytogenetic methods in the evaluation of human tumor karyotype. 6. Collection and processing of material for molecular genetic examination, peculiarities of work in a molecular genetic laboratory. 7. PCR and variants. 8. Methods of separation and visualization of nucleic acids. 9. Direct sequencing, next-generation sequencing methods and screening methods for the detection of human genome variants. 10. Analysis of gene expression. 11. Ethical and legislative issues of genetic testing. 12. Patient registries in departments of medical genetics. A Lab exercise 1. Overview of investigation methods in cytogenetics and molecular genetics. 2. Practical aspects of work in a cytogenetic laboratory. G-banding, R-banding, C-banding, ZCA rating. 3. FISH probes. Examples of advanced methods of molecular cytogenetics (mFISH, aCGH). 4. Normal and pathological karyotype in prenatal and postnatal diagnosis - practical evaluation and interpretation. ISCN Nomenclature I. 5. Normal and pathological karyotype in oncocytogenetics - practical evaluation and interpretation. ISCN nomenclature II. 6. Practical aspects of work in a molecular genetics laboratory. Isolation of nucleic acids. 7. Design of PCR primers, optimization of the PCR reaction, in silico PCR. 8. Labeling of nucleic acids, planar and capillary electrophoretic methods. 9. Variants of the human genome - practical assessment and interpretation. HGVS nomenclature. 10. QR-PCR, relative and absolute quantification - practical examples. 11. Genetic testing - practical examples. 12. Credit test.
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Learning activities and teaching methods
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Laboratory work, Lecture
- Contact hours
- 48 hours per semester
- Preparation for comprehensive test (10-40)
- 25 hours per semester
- Preparation for an examination (30-60)
- 35 hours per semester
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| prerequisite |
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| Knowledge |
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| to describe in detail the transmission of genetic information at the molecular and cellular level |
| Skills |
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| to interpret pathological processes and structures manifested by hereditary diseases |
| Competences |
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| N/A |
| N/A |
| learning outcomes |
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| Knowledge |
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| characterizes individual laboratory investigation methods used in cytogenetics and molecular genetics |
| will explain the methodology of taking biological material for genetic examination |
| Skills |
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| chooses an appropriate laboratory method and performs a basic interpretation of the results |
| distinguishes normal and pathological karyotype in prenatal and postnatal diagnosis and oncocytogenetics |
| processes, cultures and stains material for cytogenetic examination |
| Competences |
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| N/A |
| teaching methods |
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| Knowledge |
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| Lecture |
| Lecture with visual aids |
| Skills |
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| Laboratory work |
| Competences |
|---|
| Lecture with visual aids |
| Laboratory work |
| assessment methods |
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| Knowledge |
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| Oral exam |
| Test |
| Skills |
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| Skills demonstration during practicum |
| Competences |
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| Oral exam |
| Skills demonstration during practicum |
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Recommended literature
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KOČÁREK, Eduard, Martin PÁNEK a Drahuše NOVOTNÁ. Klinická cytogenetika I: úvod do klinické cytogenetiky, vyšetřovací metody v klinické cytogenetice. 2., upravené vydání.. Praha: Karolinum, 2010. ISBN 978-80-246-1880-7.
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KOČÁREK, Eduard. Praktická cvičení z klinické cytogenetiky - pracovní sešit ke skriptům Klinická cytogenetika I.. Praha: Karolinum, 2006. ISBN 978-80-246-1070-2.
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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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SLABÝ, Ondřej. Lékařská biologie I: buněčná a molekulární biologie. 1. vydání.. Brno: Masarykova univerzita, 2022. ISBN 978-80-280-0060-8.
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ŠMARDA, Jan, Jiří DOŠKAŘ, Roman PANTŮČEK, Vladislava RŮŽIČKOVÁ a Jana KOPTÍKOVÁ. Metody molekulární biologie. 1. vyd.. Brno: Masarykova univerzita, 2005. ISBN 80-210-3841-1.
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