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Course topics: Lectures: 1) Meiosis and its specifics, mechanisms of chromosomal aberrations 2) Types of chromosomal aberrations and factors that influence their occurrence 3) Classical and molecular cytogenetics 4) Deregulation of the cell cycle and basics of carcinogenesis, epigenetics 5) Molecular basis of the most common forms of cancer and hereditary forms of cancer. 6) Fundamentals of recombinant DNA techniques, vectors and their applications, gene therapy, CRISPR/CAS9 7) DNA polymorphisms and their laboratory diagnosis (VNTR, SNP...) 8) DNA mutations as a cause of some human pathologies 9) Human genome and its characteristics (DNA types, their origin and significance - satellite DNA, mobile genetic elements, gene families) 10) Introduction to human genetics, history and basic genetic concepts and methods. 11) Monogenically determined normal and pathological traits autosomal inherited and traits linked to the X chromosome 12) Polygenic and multifactorial inheritance, mitochondrial inheritance. Fundamentals of population genetics Practise: 1) Cell cycle - A) Preparation of smear stained slides of onion (Allium cepa) roots for microscopic observation of different stages of mitosis, calculation of mitotic index. B). Observation of onion roots after colchicine (or its derivatives) 2) C. elegans - model organism in genetics - Observation and identification of growth stages of C. elegans , determination of sex ratio (hermaphrodites vs males). 3) C. elegans - model organism in genetics, RNA interference - Induction and observation of RNA interference in the model organism C. elegans. 4) Analysis of chromosome number and structure from blood cells - Preparation of chromosome preparations 5) Analysis of chromosome number and structure from blood cells - Visualization of chromosomes - G banding (classical staining) 6) Molecular analysis - Isolation of genomic DNA followed by fluorescence detection and electrophoretic separation of nucleic acids by gel migration 7) Molecular analysis - PCR method - principle+detection of mutation of gene encoding transpeptidase in prokaryotic organisms; 8) Molecular Analysis - Visualization of chromosomes by hybridization method (FISH) - computer animation, human chromosome distribution, healthy human karyotype and chromosome aberrations - microscopic observation and animation 9) Mendelian concept of inheritance - Mendelian concept of inheritance 10) Heredity and sex 11) Population genetics 12) Application of the PCR method (PCR-RLFP) to determine the pathological consequences of coding sequence polymorphisms in humans (example: sickle cell anemia) - computer animation

Supervisors and educators:
doc. PhDr. Silvia Puteková, PhD. - Kogarant
Mgr. Patrícia Hockicková, PhD. - Zabezpečuje, Cvičiaci, Skúšajúci, Zodpovedný za elearning
RNDr. Karolína Tomčíková, PhD. - Kogarant, Schvaľujúci zápis
doc. Ing. Stanislava Blažíčková, PhD. - Zabezpečuje, Hlavný garant
doc. RNDr. Martina Horváthová, PhD. - Kogarant
PhDr. Michal Rafajdus, PhD. - Kogarant
prof. RNDr. Marie Korabečná, Ph.D. - Zabezpečuje, Prednášajúci, Skúšajúci, Cvičiaci

Code: LMbD22

Period: ZS

Credits: 4