Docente
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TROMBETTA BENIAMINO
(programma)
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
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