Syllabus of Lectures on Genetics

History of genetics in light of contemporary knowledge (J.G.Mendel, T.H. Morgan, O. Avery, J. Watson, F. Crick, J. Monod etc.). Structure of human genome. Human Genome Project (HGP) – mapping of DNA. Nuclear genome. Gene and non-gene areas of DNA. Repetitive segments of DNA. Mobile elements of human genome. Mitochondrial genome.
Changes in genetic information. Gene mutations and their classification. Dynamic mutations. DNA polymorphisms. Types of DNA polymorphisms and their significance.
Process of mutagenesis. Mutagenes (chemical, physical, biological). Spontaneous and induced mutations and their mechanisms. DNA repair system. Selected syndromes associated with the altered DNA repair.
Structural and numerical abberation of chromosomes. Mechanisms and consequencies of the chromosomal alterations. Robertsonian translocation. Basis of clinical cytogenetics. Methods of clinical cytogenetics. Inactivation of X-chromosome. Genomic imprinting.
Mendelian inheritance - Mendel´s laws. Monogenic inheritance and its types. Autosomal and gonosomal disorders. Atypical patterns of inheritance. Gene linkage and mapping. Gene interactions.
Polygenic and multifactorial inheritance. Quantitative and qualitative traits. Genetic analysis of quantitative traits. Association studies. Twins studies. Heritability. Genetics of complex diseases.
Genetic disaeses. Molecular and biochemical basis of genetic disorers. Hemoglobins and hemoglobinopathies. Inborn errors of metabolism. Selected enzymopathies. Receptors and disorders of their function. Familial hypercholesterolemia. Disorders of molecular transport. Cystic fibrosis. Disorders of cell structure. Duchenne muscular dystrophy.
Immunogenetics. Mechanisms of immune response. Structure of molecule of immunoglobulins. Genetic basis of immunoglobulin diversity. Somatic rearrangements. Allelic exclusion of imunoglobulin genes. Immunoglobulin isotype switching. T-cell antigen receptors. Major histocompatibility antigens. Classes of MHC. Polymorphism and inheritance of HLA haplotypes. HLA disease associations.
Genetic aspects of ontogenesis. Fertilisation. Differentiation of cells and tissues. Genes and gene expression during ontogenesis. Structure and function of HOX genes. Stem cells. Cancer stem cells. Developmental genetics and malformations. Reproductive genetics. Determination of sex in human beings.
Molecular basis of cancer I. Biology of neoplastic growth. Tumor microenvironment. Cancer energy metabolism.Warburg effect. Genetic basis of cancer. Cancerogenesis.
Molecular basis of cancer II. Protooncogenes and their role in regulation of cell division. Oncogenes and oncoproteins. Tumor supressor genes. Mutations of tumor supressor genes. Characteristics of selected tumor supressor genes. Mutator genes. Epigenetics of tumors. Hereditary and sporadic cancer.
Farmacogenetics – farmacogenomics. Nutrigenetics - nutrigenomics. Farmacogenetic interactions. Methods and significance of farmacogenomics. Nutrigenetic interactions. Nutrigenomics: goals and strategies.
Genetics of orofacial region. Genes involved in tooth development. Genetic disorders of orofacial region – tooth agenesis, structural tooth defects, clefts, syndromes associated with orofacial defects. Types of inheritance of genetic orofacial disordes. Methodology of study in orofacial genetics.
Methods in genetics – overview. Methods of study of nucleic acids. Methods of study of genes. Methods of study of chromosomes. Methods and principles of molecular diagnostics. Direct and indirect DNA diagnostics.
Selected topics in medical genetics. Genetic counceling. Genetic prognosis.Prenatal genetic testing. Potencial treatment of genetic diseases. Ethical and legal issues in medical 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;