The goal of this course is to provide general knowledge about the role of chromosomes in human genetics and use of cytogenetic techniques to obtain diagnostic information.
At the end of the course students should be able to:
understand and explain basic aspects of human chromosome biology; use modern molecular cytogenetic techniques and methods; work in the laboratories of clinical and cancer human cytogenetics.
1. History of cytogenetics. Objects, aims and methods of cytogenetics. Instrumental analysis of cytogenetic structures. Light microscopy, phase microscopy, darkfield microscopy, fluorescent microscopy. Cytochemical and histochemical methods. Technical equipment of cytogenetics laboratory. 2. Basic techniques of cytogenetic preparation making. Pretreatment, fixation, maceration, staining, closing of preparations. Paraffin technique, squash methods, spreading methods. 3. Cell cycle and DNA content in eukaryotic cells. 4. Mitosis, meiosis and cell division. 5. Interphase nucleus, chromatin and organization of chromosomes. Relation between structure and function of chromatin. 6. Chromosomal shape, karyotype, idiogram. Banding methods. Q, G, C, R, N-banding. HRT technique. 7. Physical, chemical mutagens and chromosomal damage. 8. Structural chromosomal changes. 9. Origin and significance of chromosomal aberrations. 10. Application of short-term cytogenetics assays for screening of environmental mutagens - chromosomal aberrations, micronucleus test, sister chromatid exchanges. 11. Human cytogenetics. 12. Cytogenetic abnormalities in hematological malignancies and solid tumors. 13. Molecular cytogenetics. Methods and applications of fluorescence in situ hybridization in biological dosimetry and detection of disease-specific chromosomal alterations. Technique of comparative genomic hybridization (CGH). Spectral karyotyping. Array-CGH.14. An International System for Human Cytogenetic Nomenclature (ISCN).
NUSSBAUM, Robert L., Roderick R. MCINNES, Huntington F. WILLARD, James THOMPSON and Margaret Wilson THOMPSON. Klinická genetika : Thompson & Thompson : 6. vyd. Translated by Petr Goetz. Vyd. 1. Praha: Triton, 2004. 426, lix. ISBN 8072544756. info
MICHALOVÁ, Kyra. Úvod do lidské cytogenetiky. Vyd. 1. V Brně: Institut pro další vzdělávání pracovníků ve zdravotnictví v Brně, 1999. 172 s. ISBN 8070132817. info
Written tests on computer. The test consists of 50 questions, 75% of correct answers is needed to pass.
Language of instruction
The course is taught annually.
The course is taught: every week.