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