GENERAL PSYCHOLOGY
The aim of this course in providing a student with a thorough grounding in the basics of human genetics. The student will acquire advanced knowledge about the organization of nuclear and mitochondrial genomes and about DNA variability.
Additionally, the student will learn the classical concepts of inheritance transmission patterns, the principles of genetic characterization and multifactorial traits and diseases.
A special focus of the course will be given on the interaction of genes and environment in the complex biological systems of the human body under normal conditions and diseases.
Last, the course will be conducted through an experimental approach to develop the scientific methodology, skills that will increase the student abilities in clinical decisions and problem solving.
Genes in pedigrees and populations
Genes and alleles nomenclature; models of monogenic and multifactorial inheritance; mendelian pedigree patterns; complications to the basic mendelian patterns; genetics of multifactorial characters; factors affecting gene frequencies
Principles of DNA cloning
DNA cloning and PCR; principles of nucleic acid hybridization; DNA sequencing
Organization of the human genome
General organization of the nuclear and mitochondrial genomes; protein coding genes; RNA genes; highly repetitive DNA
Model organisms, comparative genomis and evolution
Gene expression
Promoter and primary transcript; Epigenetics: histon modifications and DNA methylation; epigenetic memory and imprinting; alternative splicing; translational control
Bioinformatic approaches in the post-genomic era
Study of gene function; bioinformatic approaches; Proteomics, protein-protein and protein-Dna interactions
Human genetic variability and its consequences
Types of variation between genomes; DNA damage and repair; pathogenic DNA variants; molecular pathology; genotype – phenotype correlations; genetic mapping of mendelian characters; mapping genes conferring susceptibility to complex diseases
Cancer genetics
Farmacogenetics and personalized medicine
Chromosomal abnormalities
Strachan – Read, Genetica molecolare umana, Zanichelli
Relethford, Genetica delle popolazioni umane, Casa ed. Ambrosiana