General Biology – Part II Genetics

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General Biology – Part I: Biology 2014
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Viruses – life cycle and molecular biology
Cellular defence mechanisms against viral infections
Comparison of eukaryotic and prokaryotic cells, with a special emphasis on structure of a
typical eukaryotic and prokaryotic gene and its expression
Consequences of allogeneic transplantations
Proteins – basic structural organization (primary to quaternary), domain structure of
proteins and its examples
Nucleic acids - basic structural organization (primary to tertiary), differences and
similarities between DNA and RNA
Nonsense-mediated decay – relevance for human diseases
Two basic functions of mitochondria
Autophagy
Biomembranes – basic structure, properties and functions
Transport across biomembranes
Intestinal glucose absorption - basic transport mechanisms
Cellular motility
Cytoskeletal systems
Protein folding, molecular chaperones and reaction of cells on protein misfolding and
endoplasmic reticulum stress
Molecular motors and intracellular transport
Principles of vesicular transport
Interferons
Cell nucleus – structure and function; why is it problematic to hold that cell nucleus
contains chromosomes?
Mitochondria – structure and function; what aspects indicate the prokaryotic origin of
mitochondria?
Endoplasmic reticulum and Golgi complex – structure and function
Intracellular degradative processes; two basic compartments of protein degradation in the
cell
Ribosomes – structure, function and biogenesis
Cell cycle and its regulation
Intrinsic and extrinsic pathway of apoptosis initiation
Mitosis - relevance, course of basic events, and possibilities of pharmacologic
interventions
DNA replication and possibilities to reproduce it in vitro
Transcription - basic outlines, relevance and regulation, differences between prokaryotic
and eukaryotic transcription
Pre-mRNA processing and splicing, alternative splicing – relevance and perturbance of
splicing due to mutations. Examples.
Cyclins and CDKs
Translation and posttranslational modifications, genetic code
Non-coding regulatory RNA
Gene expression – regulation in prokaryotes
Gene expression – regulation in eukaryotes
Extracellular matrix - composition, relevance, receptors for extracellular matrix
Make a schematic drawing of a typical signal transduction pathway
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Cellular response to DNA damage - basic molecular mechanisms
Cell death - basic two types and their comparison on morphological and molecular level
Cell aging; what are the differences between normal stem and differentiated cells and
cancer cells?
Antibodies - basic structure and principles of generation of antibody diversity
Make a schematic drawing of a typical human protein coding gene
Signal transduction - basic types of signal
Signal transduction - kinases and phosphatases. Second messengers and G-proteins
T- a B-lymphocyte interaction during the antibody synthesis and its malfunction in
genetic diseases of immunity
Cell and tissue cultures - basic types
Plasmids and gene cloning, recombinant proteins
Antigen presentation (MHC restriction)
Multidrug cancer resistance
Steroid hormones, their signal transduction and malfunction in human diseases
Three basic immunologic differences between blood group systems AB0 and Rh
Negative feedback in signal transduction and DNA damage response pathways examples
Polymerase chain reaction and its importance in medicine
Caspases
Stem cells and cancer stem cells
Identification and clearance of apoptotic cells and apoptotic bodies and its malfunction in
human diseases
Literature:
Goldman SR: Medical Cell Biology, 3rd ed., Elsevier 2008
General Biology – Part II: Genetics 2014
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History of genetics
Non-coding regions of eukaryotic genes and examples of functionally relevant
mutations within them
Human genome - size and structure
Why it is not always true: one gene → one protein → one trait?
Chromosome structure and basic methods of chromosome analysis
Autoimmune disease – examples, genetics and molecular biology
Microsatellites and their exploitation in human genetic mapping studies and DNA
diagnostics
Gene interactions and allelic interactions
Gene linkage and its use for gene mapping. What is the main difference in
expressing a genetic distance in experimental organisms and in man?
Basic types of mutation distinguished by a molecular mechanism of mutation
Basic types of mutation distinguished by an impact on mutated protein function
Basic types of mutation distinguished by location of a mutation within genes
Genetic predisposition to cancer
Chromosomal mutations
Germinal and somatic karyotypic changes
Mendel’s laws and examples of their non-validity
Monogenic diseases - criteria for distinguishing basic types of inheritance in
pedigrees
Complex diseases and heritability
Sex-related inheritance
Dominant diseases - examples of pedigrees and types of mutations that may underlie
them
Recessive diseases - examples of pedigrees and types of mutations that may underlie
them
DNA diagnostics. Sources of potential errors in indirect DNA diagnostics.
Diseases due to structural heamoglobin changes - examples, genetics and molecular
biology
Allelic heterogeneity - examples
Relevance and basic types of DNA polymorphisms
Gametogenesis, comparison of spermatogenesis and oogenesis. Why
parthenogenesis is not possible in mammals?
Genetic determination of sex, basic molecular processes
Fertilization, basic molecular processes
Meiosis - course and relevance. Describe meiosis using the variables C and n
Nondisjunction and its consequences
Genetics and molecular biology of ontogenesis, homeoboxes and homeotic genes
Phenocopy and genotype-environment interactions - examples
Hardy-Weinberg law and processes changing allelic frequences
What are the main differences in the contribution of egg and sperm to the zygote?
Basic principles of pedigree drawing and its significance in medicine
Twin studies and its importance in medical genetics
Risk assessment and genetic prognosis. In what circumstances would genetic
prognosis be preferred over DNA diagnostics?
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Penetrance and expressivity - examples and possible underlying mechanisms
Inbreeding and its genetic consequences. Can we use inbreeding in experimental
animal models?
Genetic heterogeneity - how could it be identified in human genetic diseases? Cite
examples.
Thalassaemias – classification, genetics, types of mutations, and molecular biology
Oncogenes, proto-oncogenes and types of mutations found in them in tumours
Immunogenetics and histocompatibility antigens
Blood groups and their genetic determination
Structure of haemoglobin, globin genes, their organization and regulation, regulation
of haemoglobin synthesis during development
Epigenetics - types, biological mechanisms and relevance of epigenetic changes
Gene dosage compensation
Model organisms in genetic analysis. Inbred mouse and rat strains, transgenic
organisms.
Heterozygotic advantage, sickle cell anemia and balanced polymorphism
Loss of heterozygosity
Modifyier genes - examples in human genetics or animal models
Linkage disequilibrium
Sources of phenotypic variability of genetic diseases
Somatic mutagenesis
Tumour suppressor genes and types of mutations found in them in tumours
Literature:
Pritchard DJ, Korf BR: Medical Genetics at a Glance, Blackwell Science 2003, 2006
Mange AP, Mange EJ: Genetics: Human Aspects, Sinauer 1990
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