Bi6270 Cytogenetics and cytogenomics

Faculty of Science
Spring 2021
Extent and Intensity
2/0/0. 2 credit(s) (fasci plus compl plus > 4). Type of Completion: zk (examination).
Teacher(s)
doc. RNDr. Petr Kuglík, CSc. (lecturer)
Guaranteed by
doc. RNDr. Petr Kuglík, CSc.
Department of Experimental Biology - Biology Section - Faculty of Science
Contact Person: doc. RNDr. Petr Kuglík, CSc.
Supplier department: Department of Experimental Biology - Biology Section - Faculty of Science
Timetable
Mon 1. 3. to Fri 14. 5. Wed 9:00–10:50 online_B1
Prerequisites
Bi3060 Basic genetics && Bi4020 Molecular biology || NOW ( Bi4020 Molecular biology )
Requirements of genetics an molecular biology as one of disciplines of the common part of leaving examination of Biology.
Course Enrolment Limitations
The course is also offered to the students of the fields other than those the course is directly associated with.
fields of study / plans the course is directly associated with
there are 7 fields of study the course is directly associated with, display
Course objectives
The goal of this course is to provide general knowledge about the role of chromosomes in human genetics and use of cytogenetic and cytogenomics 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.
Learning outcomes
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.
Syllabus
  • 1. History of cytogenetics. Genetics, cytogenetics and cytogenomics. Human cytogenetics. 2. Instrumental analysis of cytogenetic structures. Light microscopy, phase microscopy, fluorescent microscopy. 3. Basic techniques of cytogenetic preparation making. 4. Mitosis, meiosis and cell division, chromosomal structure and organization of chromosomes. 5. Methods of clinical cytogenetics, classical cytogenetics, mitotic metaphase chromosome preparation, karyotype, idiogram. Chromosome banding methods: Q, G, C, R, Ag -banding. Automation of metaphase finding and imaging. An International Systém of Human Cytogenomics Nomenclature (ISCN2016). 6. Molecular cytogenetics. Methods and applications of fluorescence in situ hybridization in clinical and cancer cytogenetics. 7. Interphase FISH, multicolor FISH (M-FISH), spectral karyotyping (SKY), mBAND. Microarray-CGH. NGS in cytogenetics. 8. Clinical cytogenetics and cytogenomics. Cytogenetics in reproduction medicine. Prenatal and preimplantation cytogenetic diagnosis, detection of common aneuploidies. 9. Mechanisms of chromosome rearrangements, chromosome structural variation, copy number variation (CNVs). 10. The origin and consequences of chromosome pathology, microdeletion and microduplication syndromes, inversion, translocation. Marker chromosomes. 11. Cytogenetic abnormalities in hematological malignancies and solid tumors, chromothripsis. 12. Application of short-term cytogenetics assays for screening of environmental mutagens – CAPL test, micronucleus test, sister chromatid exchanges. 13. The European standard EN ISO 15189:2013 Requirements for quality and competence of medical (cytogenetic) laboratories.
Literature
  • Kuglík, P.: Vybrané kapitoly z cytogenetiky. Skriptum, Masarykova univerzita, Brno, 2000.
  • Kuglík, P.: Základy molekulární cytogenetiky člověka. Skriptum - elektronická forma.IS MU, 2006.
  • SNUSTAD, D. Peter, Michael J. SIMMONS, Jiřina RELICHOVÁ, Jiří DOŠKAŘ, Jiří FAJKUS, Petr HOŘÍN, Aleš KNOLL, Petr KUGLÍK, Jan ŠMARDA, Jana ŠMARDOVÁ, Renata VESELSKÁ and Boris VYSKOT. Genetika (Principles of Genetics). 1st ed. Brno: Masarykova univerzita, 2009. 894 pp. Učebnice. ISBN 978-80-210-4852-2. URL info
  • 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
Teaching methods
lectures
Assessment methods
Written tests on computer. The test consists of 50 questions, 80 % of correct answers is needed to pass.
Language of instruction
Czech
Further Comments
The course is taught annually.
Listed among pre-requisites of other courses
Teacher's information
http://orion.sci.muni.cz/kgmb/student/6270.htm
The course is also listed under the following terms Spring 2008 - for the purpose of the accreditation, Spring 2011 - only for the accreditation, Spring 2003, Spring 2004, Spring 2005, Spring 2006, Spring 2007, Spring 2008, Spring 2009, Spring 2010, Spring 2011, Spring 2012, spring 2012 - acreditation, Spring 2013, Spring 2014, Spring 2015, Spring 2016, Spring 2017, spring 2018, Spring 2019, Spring 2020, Spring 2022.
  • Enrolment Statistics (recent)
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