Ateneo - UPO

Structure and evolution of the human genome. - Cell division: mitosis and meiosis. -Correlation genotype-phenotype (example: ABO blood group, sickle-cell anemia). -Principles of Mendelian genetics. - Exceptions to the laws of Mendel. - Chromosomal classification criteria and chromosomal aberrations - Population genetics. -Transmission of independent and concatenated characters. Linkage analysis. - Quantitative and semi-quantitative multifactorial traits. -

genetica & genomica Strachan, Lucassen II edizione Zanichelli

Basic notions of biochemistry, cell biology, and statistics.

DNA structure. Organization of DNA in chromosomes. Structure and function of the chromosome. -The Human Genome structure. Organization of genes. Transposable elements. Ripetitive DNA sequences. Gene families. -Cell division: mitosis and meiosis. -Genotype-phenotype correlation (example: ABO blood group, sickle cell anemia). Protein translation and genetic code. Correlation between type of mutations and dominant or recessive phenotype at different levels of phenotype investigation. Genetic consequences of meiosis. -Principles of Mendelian genetics. Transmission in families of autosomal recessive, dominant and Xlinked monofactorial traits; recurrence risks in families. -"Exceptions" to Mendel’s rules. Incomplete penetrance, variable expressivity, genetic heterogeneity. X-chromosome inactivation, mitochondrial inheritance, genomic imprinting -Criteria for classification of chromosomes and methods for their identification. Chromosomal aberrations and their incidence at birth; Reproductive risks associated with chromosomal aberrations. -Population genetics. Gene and genotypic frequencies in the population and Hardy-Weinberg equilibrium -Evolution of human populations. Evolutionary forces (mutation, selection, genetic drift, migration) that influence allelic and genotype frequencies. -Transmission of independent and concatenated characters. Localization of genes on chromosomes based on their transmission in families (linkage analysis). Different methods for gene mapping. -Multi-factorial characters. Population distribution of multifactorial characters; evaluation of the weight of the genetic component in multifactorial disorders; identification of susceptibility genes in multifactorial diseases.

The student will be able to understand the relationships between genetic information and the phenotype. They will be able to assess the recurrence risk of genetic disorders—or conditions with a genetic component—within families. They will understand the molecular basis of genetic diseases and apply this knowledge to the analysis and resolution of problems in formal and molecular genetics.