Portal:Exam Topics in Biology and Medical Genetics (1. LF UK, GM)

see also current list of exam topics at the website of Institute of Biology and Medical Genetics

Current list of exam questions - valid from 2014/2015 academic year

Fundamental laws of genetics Dihybridism Additive model of polygenic inheritance Interaction of non-allelic genes Genetic linkage Genotype variation, mutations and recombination Gene-environment interactions Inheritance of multifactorial traits and diseases in man Heritability, methods and importance of its assessment in medicine Multifactorial diseases, disorders, and traits in man Genealogical method Autosomal dominant inheritance in pedigree and experiment, examples of traits in man Autosomal recessive inheritance in pedigree and experiment, examples of traits in man Gonosomal inheritance in pedigree and experiment, examples of traits in man Twins and twin studies in genetics Genetic methods of linkage analysis Genetic methods of association analysis Genetic analysis methods in experimental and human genetics Genetic mapping in man Genetic maps and their importance Structure and function of eukaryotic cell The cell cycle, its regulation and disturbances Cell signaling Mitosis, its regulation and disturbances Meiosis, its regulation and disturbances Crossing-over, its mechanism and importance Gametogenesis Extranuclear inheritance Non-Mendelian inheritance Structure and types of the eukaryotic chromosomes Methods of chromosomal examination Molecular cytogenetics Human karyotype, methods of its examination Abnormalities in chromosome number, their causes and clinical presentation in man Abnormalities in chromosome structure, their causes and clinical presentation in man Germ cell and somatic cell chromosome mutations Etiology of chromosomal aberrations Autosomal aneuploidy syndromes in man Gonosomal aneuploidy syndromes in man Indications for chromosome analysis in clinical genetics DNA - structure and function RNA - types, structure and function DNA replication Transcription, post-transcriptional processing of RNA in eukaryotes Translation, post-translational processing of proteins in eukaryotes The genetic code Structure and function of a gene Protein coding and non-coding sequences of DNA Regulation of transcription in eukaryotes Translation of membrane and secretory proteins (protein sorting, targeting) Regulation of gene expression in eukaryotes Epigenetics, genetic imprinting Polymorphisms of nucleic acids Methods of nucleic acid analysis Recombinant DNA and genetic engineering Gene mutations, types and manifestation Mutagens and mutagenesis, mutagenicity testing Reparation mechanisms of the cell and their genetic control Reparation mechanisms of nucleic acids Molecular basis of genetic diseases Proteins and their function, genetic polymorphism of proteins Genetics of human hemoglobins Hemoglobinopathies Inborn errors of metabolism Genetic information of mitochondria, mitochondrial diseases Direct diagnostics of hereditary diseases by nucleic acid analysis Indirect diagnostics of hereditary diseases by nucleic acid analysis Physical mapping of DNA Map of human genome, Human Genome Project, results and significance Gene therapy - principles, current possibilities, perspectives Principles of therapy of heritable diseases Genetics and clinical importance of blood group systems Genetics and clinical importance of Rh system The cells of immune system, immunophenotyping Genetic control of immune response Genetic control of antibody production Immune response (antigen recognition, cell cooperation) Genetics of immunoglobulins, B-cell and T-cell receptors Genetics of transplantations, transplantation rules, histocompatibility systems Major histocompatibility complex of man Immunotolerance and possibilities of its induction Genetic aspects of immune system function related to cancer Hereditary immunodeficiencies Structure and function of the prokaryotic cell Importance and structure of prokaryotic chromosomes Biology and genetics of bacteria, importance in medicine Regulation of gene expression in prokaryotes Transcription and translation in prokaryotes Conjugation, transformation, transduction Biology and genetics of viruses, importance in medicine Ontogenesis and its genetic control Genetic determination of body plan in development Chromosomal determination of sex Ontogenesis of sex in mammals and its disturbances Apoptosis, clinical outcomes of its dysregulation Apoptosis, genetic control and importance in development Genetic aspects of aging and death Teratogenesis, teratogens Environmental mutagens and teratogens Inborn errors of development in human, examples, classification Genetic aspects of populations, Hardy-Weinberg equilibrium Selection, its types Inbreeding, consanguineous marriages and their risks Population polymorphisms and their causes Mutations in population genetics, frequency of mutations Migration, gene flow Structure of populations, genetic drift, importance for evolution Characteristics of cancer cells Characteristics of tumor growth Causes of tumors, carcinogenesis, carcinogens Proto-oncogenes, oncogenes Tumor suppressor genes Mutator genes, genome stability Chromosomal aberrations in cancer cells Hereditary cancer, cancer in families Genetics in presymptomatic diagnostics and prevention of cancer Gene therapy of cancer Genetic mechanisms of evolution Species and speciation Evolution of genes and genomes Origin and evolution of species Evolution of Homo sapiens Aims of medical genetics Ethical and legal aspects of medical genetics Genetic consultation and it importance Postnatal screening of heritable diseases Prenatal screening of inborn errors of development Prenatal diagnostics of heritable diseases, possibilities of prevention Prenatal diagnostics of chromosomal aberrations, possibilities of prevention Prenatal diagnostics of inborn errors of development, possibilities of prevention Pre-conception prevention of heritable and inborn diseases Postnatal prevention and therapy of heritable and inborn diseases Ecology, ecogenetics Pharmacogenetics, nutrigenetics