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.
Scientific publications concerning the arguments proposed will be made available.