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Last update: Zdenka Křížková (14.11.2017)
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Last update: doc. MUDr. Marie Ludvíková, Ph.D. (02.10.2023)
Completing a subject:
Winter semester credit:
Sommer semester credit:
Information for students with learning disabilities, etc.: inform your teachers at the beginning of the year/semester; later requirements (during the day of test/exam) cannot be taken into account |
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Last update: Zdenka Křížková (14.11.2017)
Literature: Compulsory: 1. Young I.D: Medical genetics. Oxford University Press 2005 Recommended: 1. Jorde L.B, Carey J.C: Bamshad M.J.: Medical Genetics. Mosby Elsevier, 2010 2. Cagle P.T., Allen T.C.: Basic Concepts of Molecular Pathology. Springer 2009 |
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Last update: Zdenka Křížková (22.05.2018)
Final Exam – Biology
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Last update: Zdenka Křížková (14.11.2017)
Syllabus of Lectures on Genetics
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Syllabus of PRACTICALS on Genetics
Topics: 3rd semester - GENETICS 1. Molecular genetics Types of mutations (deletion, insertion, duplication, substitution; non-sense/miss-sense mutations, null mutations; frame shift mutations and in frame mutations), mutations in coding and non-coding sequences; Genetic code; Codone; Replication, Transcription, Translation; SNP 2. Mendelian genetics Mendel’s laws; P, F1 and F2 generations; Segregation ratios; Genotype; Phenotype Monohybridism and polyhybridism; Codominance, incomplete and complete dominance; Recessiveness; Back cross; Lethal genes; Punnett square; Forked-line method; Imprinting 7. Gene linkage Linkage of genes, Morgan; Gene maps; Segregation ratios; Lod Score; Three-point test cross 6. Heredity and sex X and Y chromosomes; X-inactivation (dose compensation); Sex-linked inheritance (gonosomal dominant and recessive traits); Pseudoautosomal inheritance; Pseudodominance; Hemizygotes; Sex-influenced and sex-limited inheritance; Examples 5. Gene interactions and Complex inheritance Basic types of gene interactions (epistasis, complementarity, gene duplicity/multiplicity…); Polygenic inheritance; Quantitative traits; Heritability; Twins studies; Edwards formula; Relative risk; Heredity and quantitative traits; Selected examples of complex human disorders 8. Genealogy Genealogy schemes (pedigrees) – drawing and analysis; Symbols and rules used; Autosomal dominant and recessive inheritance; X-linked dominant and recessive inheritance; Y-linked inheritance; sex-influenced inheritance; Mitochondrial inheritance; Incomplete penetrance and genetic heterogeneity; Expressivity 9. Multiple allele Multiple alleles; Immunogenetics; Antigen; Antibody; Examples; ABO, H, Se, Rh blood group systems; HLA alleles 10. Population genetics Allele frequencies; Hardy-Weinberg law, and its definition criteria; Gene pool; Panmixia; Linkage disequilibrium; Forces changing allelic frequencies; Genetic drift, selection, migration, new mutations; Heterozygotic advantage; Examples: human monogenic traits/diseases 12. Genetic prognosis Genetic prognosis; Penetrance; Expressivity; Coefficient of kinship; Coefficient of inbreeding; Risk calculation 13. DNA diagnostics DNA denaturation, hybridization; DNA probes; Genetic markers; Direct and indirect DNA-diagnostics; Restriction endonucleases; RFLP; Electrophoresis; DNA amplification; PCR; Southern blotting; Genomic probe; Reverse transcription; Northern blotting; Western blot; Insertion polymorphism; Microsatellites; Trinucleotide expansions; Prenatal diagnostics. 13. Selected issues in cancer genetics Cancer; oncogene; protooncogene; Tumour suppressor gene; Comparative genomic hybridization; Gene expression profiling; Examples 14. Basics of statistics Population; Probability distribution; Variability; Descriptive statistics; Point estimation; Estimation by confidence intervals; Hypothesis testing; Coefficient of variation; Box-plot; Parametric tests; Nonparametric tests; Chi - square test
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Last update: doc. MUDr. Marie Ludvíková, Ph.D. (02.10.2023)
Completing a subject:
Winter semester credit:
Sommer semester credit:
Information for students with learning disabilities, etc.: inform your teachers at the beginning of the year/semester; later requirements (during the day of test/exam) cannot be taken into account |