Learning outcomes of the course unit
Given the extensive development of human genetics over the last years, this course describes the main aspects of cytogenetics, formal human genetics, the action of the human gene, mutation and population genetics using various examples most of all relating to pathological conditions.
In addition, some practical applications of human genetics (genetic counseling, prenatal diagnosis, genetic screening and genetic
manipulation) are described at the end of the course along with a discussion on the biological future of humankind, analysing the perspectives that can be derived from the current study of human evolution mechanisms. These topics are strictly related to the most frequent applications of genetics to medicine.
Basic knowledge of molecular and cellular Genetics.
Course contents summary
Human chromosomes : structure and function; cell cycle and mitosis; normal karyotype in mitosis and meiosis; metaphase chromosomes detection techniques; diseases of human chromosomes: numerical and structural abnormalities related to autosomal syndromes, sex chromosomes:
aneuploidy of the X chromosome; dose compensation for sexual chromatin; fragile X syndrome. Formal human genetics: family trees, data collection and construction; codominant, dominant autosomal and recessive inheritance; sex related inheritance; segregation of the alleles and the laws of probability; population genetics: the law of Hardy-Weinberg and its application; consanguineous marriages and isolated communities; evolution processes; quantitative and behavioural characters.Gene action
: metabolism and diseases; discovery and analysis of enzymatic defects in the metabolism of amino acids, lipids and lipoproteins; erythrocyte enzymes; mucopolysaccharidosis, enzymatic defects involving several enzymes; human hemoglobin: hemoglobins genetics and Thalassemias ; blood group genetics. Mutation: spontaneous and induced mutation; genetic and chromosomal mutation; evaluation of the mutation frequencies; effects of age and gender; somatic mutations and carcinogenesis mechanisms; environmental mutagenesis.Characteristical aspects of the human genoma:
organization and expression of the human nuclear and mitochondrial genome; immunogenetics and pharmacogenetics, gene therapy; the Human Genome project; genetic counseling; human biological future.
Michael R.Cummings, "Eredità". EdiSES - T.Strachan, A.P.Read, "Genetica Umana Molecolare". UTET - A.P.Mange e E.J.Mange, "Genetica e l'uomo". Zanichelli - F.Vogel, A.G.Motulsky, "Genetica Umana". McGraw-Hill - J.J.Pasternak, "Genetica Molecolare Umana". Zanichelli - P.Sudbery, "Genetica Molecolare Umana". Zanichelli
The course is based on lectures that make extensive use of images and diagrams. The human genome and genetic diseases are also introduced, starting from the studies that have contributed most to their understanding. The implications of genetics to human health are discussed in order to encourage student participation.
Assessment methods and criteria
The assessment of learning outcomes is based on an oral examination to assess both genetic knowledge related to the human genome and its possible pathological changes, and the ability to apply that knowledge in issues related to human health.