Genetics - BAB31GEN

Credits 3
Semesters Winter
Completion Exam
Language of teaching Czech
Extent of teaching 2P
Annotation
The subject provides students of technical dsciplines with basic information about genetics with an emphasis on modern genetic disciplines and knowledge that is closely related to the issue of medical electronics and especially bioinformatics. The focus is on the organization and function of the human genome, including its possible pathologically significant changes and the techniques used to determine them. Students will also learn basic information about clinical genetics, genetic counseling, genetic testing, as well as their possible ethical and legal issues. The conclusion of the course also deals with original and modern approaches enabling targeted editing of the genome, especially the so-called gene therapy. Although the majority of the curriculum is oriented towards the human organism, knowledge about the genetics of other living systems - especially prokaryotes and viruses - is part of the teaching.
Course outlines
1. Introduction to genetics, structure, function and properties of information biomacromolecules, central dogma of molecular biology, DNA replication, transcription, and translation, genetic code, genome, transcriptome, exome, proteome.
2. Genomics; human genome, types of sequences present in it, human genome project, human gene and its structure, regulation of gene expression in human cell, epigenetics
3. Types of mutations and their origin, DNA polymorphisms; the molecular basis of genetically conditioned diseases.
4. Basic tools and techniques of molecular genetics, genetic laboratory and its equipment
5. Genetic testing, its ethical and legal issues; bioinformatics and its importance in genetics
6. Eukaryotic and prokaryotic cell and their genome. Non-cellular organisms: viruses, virusoids, viroids and prions, their significance
7. Principles of cytogenetics; structure and types of chromosomes, human karyotype, numerical and structural aberrations of chromosomes. Cytogenetic examinations and their importance, application of image analysis in cytogenetics
8. Cell cycle, its regulation and possible errors.
9. Principles of oncogenetics; tumor cell and its origin; classification of tumors; oncogenes, tumor suppressors and mutator genes, chromosomal abnormalities in tumors, hereditary cancer.
10. Meiosis and its importance; gene linkage, crossing over; oogenesis and spermatogenesis
11. Genetics in prenatal and reproductive medicine; techniques, importance, ethical and legal issues
12. Types of heredity, monogenic and multifactorial diseases, genetic counseling, its basic tasks and ethical issues, application of infomatics in genetic counseling.
13. Principles of immunogenetics, non-specific and specific immune mechanisms, cellular and humoral immunity, structure and function of immunoglobulins, monoclonal antibodies and their use in medicine
14. Gene therapy, the CRISPR-Cas genome editor
Exercises outlines
The course has no exercise.
Literature
[1] Presentations from classes (available on the MOODLE)
[2] Passarge, Eberhart: Color Atlas of Genetics. Thieme Publishers, 2017
[3] PRITCHARD, Dorian, KORF, Bruce: Medical Genetics at a Glance. 3rd edition, Wiley-Blackwell, 2016
Requirements
Lectures are not obligatory, but their attendance is recommended.
The final exams will take place during the winter semester exam period. The first term takes place in the form of a written test, the other terms are oral.
During the exam the student must not use any information sources or electronic aids (cell phones, tablets, smart watch, calculators etc.).
Consultation hours are possible after negotiation with the teacher - e-mail: eduard.kocarek@lfmotol.cuni.cz
The materials listed below are recommended for self-study. However, in no case can we recommend Internet resources such as the Czech or Slovak wikipedia, "wikiskripta", etc.