Genetics

The goal of the course is to describe the genetic mechanisms underlying the transmission of Mendelian traits to identify the inheritance of diseases in humans, evaluating the reproductive risk through the study of family trees. Other objectives concern the description of the mechanisms involved in genetic recombination and their application in the building of genetic maps, the definition of the hereditary material at the molecular and chromosomal level in order to understand the concepts of normal and pathological genetic variability, and finally the application of the principles of basic population genetics applied to the identification of the proportion of individuals with specific normal or pathological genotypes in the population. These skills are preliminary to understanding the contents of more advanced courses, specific to the field.

At the end of the course the student will have to demonstrate that he has understood the principles of Mendelian inheritance and apply them for the calculation of reproductive risk, be able to build a family tree by distinguishing the different types of heredity, define the classes of gene and chromosomal mutations, be able to build a genetic map and calculate the distance between genes, and be able to calculate the frequency of an allelic variant or of a genotype correlated to disease in a population, evaluating the presence of healthy carriers. The student should also have understood the main strategies used for the formal demonstration of the main genetic theories.