The organization of the human genome: Features of the human genome. Nuclear genome, repetitive elements. Focus on "special" chromosomes: X chromosome, Y chromosome and mtDNA. Normal and pathological genetic variation: Mutations, variants and polymorphisms. Molecular features, origin, mutation rate and localization of the main classes of the human genome variants (nucleotide substitutions, indels, and micro- and mini- satellytes, copy number variants, presence/absence of transposable elements). Effect of age, sex and genomic position on mutation rates. Human genome evolution: allelic and non-allelic sequences. Orthologous, paralogous and gametologous sequences. Crossing over and gene conversion, role of segmental duplications and non-allelic homologous recombination in genome evolution and human diseases. Relevance of transposable elements in the human genome. The unstable DNA: expansion of the number of repetitions of microsatellite and minisatellite. Anticipation, pre-mutation. The "1000 Genomes" project. Genetic counselling: Genetic inheritance in man. Patterns of Mendelian inheritance: recessive and dominant inheritance; autosomal, X-linked, Y- linked, pseudoautosomal. Pedigree analysis and interpretations. Human population genetics: The Hardy-Weinberg equilibrium. The law of H-W in genetic counselling. Inbreeding and its importance in the onset of rare recessive diseases; calculation of the inbreeding coefficient in population and in pedigree. Mutation (unidirectional and bi-directional models) Model of Genetic drift (effective population size). Recurrent mutation and genetic drift on the incidence of genetic diseases in populations. Natural selection. Directional and balanced selection. Phylogenetic tree: UPGMA, MP tree, genetic distances (Fst). Y chromosome phylogenetic tree. Molecular dating using rho and ASD (SNPs and STRs). The use of modern genetic variation to study Human history (Phylogeography). Mapping the human genes: Methods for mapping genes in humans. The linkage analysis, the method of lod scores. haplotypes and linkage disequilibrium; mapping of multifactorial traits and odd ratio.

“Human Molecular Genetics” 4th Edition, Strachan & Read "Genetics of population" Hedrick 3th edition Jones and Bartlett