The course aims to train students in the use of the main methods of investigation aimed at the analysis of genotype, particularly - in view of its special features and the level of detail available today - the human genotype. In particular, the multiple interactions between genotypes and phenotypes at the cellular and molecular level. Students will be directed to the choice and use of on-line database (bibliographic, thematic sequence, structural) for molecular analysis. Some laboratory sessions will be also held.
Genetic polymorphisms and molecular markers: DNA polymorphisms; measuring heterozigosity; Association analysis; genetic and physical maps. How to study by mean of of DNA polymorphisms evolution, pathology, anthropology, pharmacology, forensic. Duplicons and CNV: methods of investigation and phenotypic effects. Sequencing and main sequence databases: reference methods and bioinformatic analysis. The study of chromatin functional organization; genomic imprinting and its implications in the development and pathology; oncogenes and tumor suppressor; genes and loci involved in mental retardation; Mitochondrial diseases.
Microbial genomes and molecular genetics of bacteria. Studies of microbial genomes and characterization of mobile elements such as transposons and plasmids. Principles of DNA sequencing, techniques of mutagenesis, PCR, design primers and probes, Real-Time PCR for the study of bacterial genetics. Sequence analysis and use of bioinformatics tools. Study of CRISPR systems (Clustered Regularly interspaced Short palindromic Repeats) and its applications. Application of molecular diagnostics (DNA and immunology, monoclonal antibodies). Probiotics, bacteriotherapy and their applications, microbiomi analysis. Study of toxin and antitoxin systems (TA), sRNA and riboswitch.
Scientific publications concerning the arguments proposed will be made available.