of information in living matter: DNA as a repository of genetic information.
Cellular organization of genetic information: genes, genome and gene regulation with hints of epigenetics.
Mendel's laws; autosomal and sex-related traits; knowledge of the hereditary mechanisms of non-Mendelian diseases and complex and multifactorial phenotypes.
The molecular basis of genetic variability: meiotic recombination and crossing-over; gene, chromosomal (structural and numerical) mutations.
Use of family trees as tools to determine the mode of transmission of monogenic characters (autosomal and X-linked) and definition of probability calculus.
Examples of mutated alleles responsible for hereditary pathologies and molecular investigation tools.
Finally, basic elements of population genetics and fundamental concepts of evolution of the human species will be discussed.
The course aims to provide students with the tools and theoretical concepts for understanding the basic principles of genetics with particular reference to man. The principles underlying genetic and biological variability will be illustrated. In addition, knowledge of the hereditary mechanisms of Mendelian, non-Mendelian diseases and complex phenotypes will be provided. Finally, basic elements of population genetics and fundamental concepts of evolution of the human species will be discussed.
students will be required to know the elements of Mendelian and non-Mendelian genetics applied to man, the nature and organization of genetic material and its variability, the modalities of expression of genes and possible pathological variations. Finally, they will be asked to know the basic concepts of population genetics and evolution of the human species.
Dallapiccola B. Novelli G. Genetica Medica Essenziale; CIC Edizioni Internazionali,
• Thompson & Thompson “Genetica in Medicina” Edizione Italiana a cura di Iolascon A e Gasparini P; Idelson-Gnocchi Editrice;
1. Number of tests that contribute to the evaluation: 1
2. Objective of the test: verification of acquired knowledge and expected learning outcomes;
3. Method of administration (written, oral, practical): oral
4. Timing of execution:
5. Duration: 20-30 min
6. Typology (eg written test with closed answer, practical test, interview, etc.): interview
7. Final measurement of the exam: assessment of thirty
Chromosomes, chromosome structure, human chromosomes, mitosis and meiosis, crossing over, gametogenesis, characteristics of human chromosomes, sex chromosomes, karyotype, polyploidy, monosomies, trisomies, aneuploidies, structural chromosome variations.
Formal human genetics, Mendel's laws, pedigrees, types of inheritance with related diseases, complications in Mendelian inheritance models.
Multi-factorial characters, polygenic characters, study of twins, threshold effect.
Differences between X and Y chromosomes, pseudoautosomal regions, inactivation of the X chromosome, sex-related characters.