Course: Cytogenetics

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Course title Cytogenetics
Course code KMB/604
Organizational form of instruction Lecture + Lesson
Level of course Master
Year of study not specified
Frequency of the course In each academic year, in the winter semester.
Semester Winter
Number of ECTS credits 6
Language of instruction Czech
Status of course Compulsory
Form of instruction Face-to-face
Work placements This is not an internship
Recommended optional programme components None
Lecturer(s)
  • Hejníčková Martina, RNDr.
  • Koutecký Petr, Mgr. Ph.D.
  • Zrzavá Magda, RNDr. Ph.D.
Course content
The content of lectures: 1) Cytogenetics: definition, history, objectives, tools, basic terms 2) Chromatin condensation and modulation: chromosome condensation, chromosomal territories, euchromatin, heterochromatin, histones and histone modifications, DNA methylation, non-coding RNA 3) Chromosome structure: centromeres (structure, function, monocentric versus holokinetic chromosomes, kinetochore), telomeres (structure, function, Hayflick limit, telomerase and its role in aging and cancer), nucleolus organizing region (NOR) 4) Cell cycle and mitosis: cell cycle overview and regulation, mitosis (function, stages, mitotic spindle, cohesin), cytokinesis 5) Meiosis: function, stages, synaptonemal complex, recombination nodules, crossing-over, gene conversion, inverted and achiasmatic meiosis 6) Gametes: gametogenesis and fertilization in plants and animals, in vitro fertilization in humans, parasperms, parthenogenesis, gynogenesis 7) Sex chromosomes: definition, types, evolution, role in sex determination, haplodiploidy, environmental sex determination, sex manipulating symbionts. 8) Chromosomes and ontogenesis: lampbrush chromosomes, polytene chromosomes, polyploidization, gene amplification, genome rearrangements (VDJ recombination, chromatin diminution), chromosome elimination (X chromosome elimination, paternal genome elimination) 9) Chromosome aberrations: euploidy (causes, types, role in evolution and agriculture), aneuploidy (causes, types), structural chromosome aberrations (causes, types, role in evolution and human health), detection (sister chromatid exchange, wing spot test) 10) Human chromosomes: human karyotype, euploidy and aneuploidy in humans (causes, syndromes), structural chromosome aberrations (types and syndromes), prenatal diagnostics (purpose, methods) 11) Methods: chromosome preparations, selective staining, chromosome isolation, electron microscopy, fluorescence in situ hybridization (types, use, principles), C0t analysis, immunocytogenetics (in situ localization, immunoprecipitation) 12) Genome evolution: Genome size (C-value paradox, genome compositions, mobile elements, genome size impact), karyotype evolution (chromosome number, robertsonian fusions, chromosome fission, meiotic drive, inversions, B chromosomes) The content of practices: Demonstration of human mitotic chromosomes, karyotype composition. Preparation of meiotic chromosomes from locust males. Preparation of polytene chromosomes (Drosophila, Chironomus). Detection of sex chromatin (inactive X chromosome) in human somatic nuclei. Preparation of sex chromatin (W-chromosome heterochromatin) from polyploid somatic nuclei of Lepidoptera females. Staining of human lymphocyte chromosomes by means of banding techniques. Fluorescence in situ hybridization (FISH): training procedure and digital image processing. Supportive materials: Students will get access to Moodle course containing the powerpoint presentations used during the lectures along with a summary and further information as well as all protocols and presentations from practicals.

Learning activities and teaching methods
Monologic (reading, lecture, briefing), Laboratory
  • Preparation for exam - 60 hours per semester
  • Preparation for classes - 60 hours per semester
  • Class attendance - 48 hours per semester
Learning outcomes
To provide detailed knowledge of functional organisation of the genome, chromosome structures and their function, the course of mitotic and meiotic divisions with emphasis on their significance for the transfer of genetic information in somatic and germ cells, and mechanisms of genome evolution. An overview of cytogenetic methods including advanced techniques of molecular cytogenetics is also given.
Students will understand basic principles of cell nucleus functioning, structure and evolution of the genome, and various aspects of human cytogenetics.
Prerequisites
Basic understanding of genetics and cell biology (recommended prerequisites: KMB/240 Genetics, KMB/023 Principles of Molecular Biology, KMB/601 Biology of the Cell II.).

Assessment methods and criteria
Written examination

To pass the exam, the student must score at least 70% of points from the final examination text and attend the practicals (1 absence max.).
Recommended literature
  • Alberts B., et al. Základy buněčné biologie. Ústí nad Labem, 2005.
  • SNUSTAD D. P., SIMMONS M. J. Genetika. Masarykova univerzita Brno, 871 s., 2009.
  • THOMPSON, T. Klinická genetika. Praha, Triton, 396 s., 2004. ISBN 80-7254-475-6.


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