Basic genetic terminology: Genes (regulatory and structural genes, genes for RNAs),
allele, multiple alleles, genotype, phenotype, qualitative and quantitative traits, homozygous and
heterozygous individuals, autosomes and sex chromosomes, genome, karyotype. Genetic
information: DNA replication. Gene expression (transcription and translation). Comparison of
genes in prokaryotes and eukaryotes. Genetic information in prokaryotic and eukaryotic cell, types
of human chromosomes. Inheritance of qualitative traits: Relations between alleles (complete
dominance, incomplete dominance, codominance). Mendel´s laws – monohybrid and dihybrid
cross, backcrossing. Inheritance of blood groups in humans. Characteristics of autosomal dominant
and autosomal recessive inheritance. Gonosomal inheritance: Modes of chromosomal sex
determination (Drosophila, Abraxas), homogametic and heterogametic sex. Characteristics of
human sex chromosomes X and Y. Characteristics of X-linked dominant, X-linked recessive and Ylinked inheritance. Sex-influenced and sex-limited traits. Examples of human diseases caused by
gonosomal genes. Genetic linkage: Morgan´s rules. Complete vs. non-complete linkage.
Importance of genetic linkage. Mutations: Mutagens (chemical, physical, biological). Classification
of mutations. Gene mutations (substitution, insertion, deletion). Structural chromosomal
mutations (deletion, duplication, inversion, translocation). Numerical chromosomal mutations
(aneuploidy, polyploidy). Examples of human disorders caused by mutations. Interactions
between non-allelic genes: Epistasis, additive effect. Population genetics. Definition of the
population. Hardy-Weinberg law and the genetic equilibrium in population. Autogamy and random
mating populations. Factors influencing the equilibrium in population (selection, migration,
genetic drift, mutations).Human genetics: Methods used in human genetics, genetic diseases and
dispositions, genetic counselling.