Genetics and Molecular Biology

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

The course is structured in frontal theoretical lectures of 48 hours of total teaching (6 CFU), divided into two Modules (Module I and Module II) of 24 hours each. Lectures are held 2 times per week and presented by the use of slides on Power-Point, with the blackboard support.

The course is structured in frontal theoretical lectures of 48 hours of total teaching (6 CFU), divided into two Modules (Module I and Module II) of 24 hours each. Lectures are held 2 times per week and presented by the use of slides on Power-Point, with the blackboard support.

The exam aims at verifying the level of knowledge and in-depth examination of the topics of the teaching program and the reasoning skills developed by the student. The evaluation is expressed in thirtieths (minimum grade 18/30, maximum mark 30/30 with summa cum laude). The evaluation consists of two oral interviews conducted on the same day by the two reference teachers on the topics covered in Modules I and II. The overall exam allows verifying the achievement of the objectives in terms of knowledge and skills acquired, as well as communication skills. During the oral tests property of language, clarity of exposition and critical capacity to solve genetics/genomic problems are also evaluated. Time required for the tests is 40 minutes for oral interviews. The final grade will result from an average between the two oral tests.

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

The course is structured in frontal theoretical lectures of 48 hours of total teaching (6 CFU), divided into two Modules (Module I and Module II) of 24 hours each. Lectures are held 2 times per week and presented by the use of slides on Power-Point, with the blackboard support.