• Definition of genotype, phenotype and genetic variability.
• DNA: structure and function
• Genetic variability: gene mutations and polymorphisms
• The molecular basis and models of our inheritance (bases, exons, genes, chromosomes):
- recessive inheritance
- dominant inheritance
- X-linked inheritance
- Multi-factorial inheritance
• Overview of Population Genetics
• Cell division and chromosomes:
- Numerical chromosomal abnormalities
- Structural chromosomal anomalies
• Human reproduction:
- humans sex Determination and pathologies due to altered sexual differentiation:
- Gametogenesis
- Medically Assisted Reproduction
• Prenatal diagnosis:
- non-invasive investigations (tristest, ultrasound)
- invasive investigations (amniocentesis, villocentesis, funicolocentesis)
• The genetics of cancer
• Neonatal and carriers screening
• Developmental genetics
• Assessment of genetic risk
• Overview of pharmacogenetics
• Genetic tests: diagnostic tests, screening tests, pre- symptomatic tests, susceptibility tests
• Genetics Test for cancer risk.
• The genetic counseling
• Psychosocial issues related to genetic tests
