Learning outcomes of the course unit
The aim of the course is to teach to the students the basic principles pf the Human Genetics, the mechanism of generation of the genetic diversity ( mutation, recombination, mobile genetic elements) and the analysis how the variability of the genetic matherial can lead to the disease, looking to all the critical steps.
At the end of the cours the students should be able to use the acquired notions to correctly analyse the mechanism of transmission of the genetic diseases.
Before the final examination, the Students must have successfully passed the examination of the course on Medical Genetics.
They must have attended the practical activities of the course and the relative tests as well.
Course contents summary
The Genetics of human populations. DNA as the genetic material. Nucleic Acids Chemistry. DNA replication. Transcription. Translation. Regulation of Gene expression in Prokaryiotics and Eukariotics. The SiRNA. The genetic Code. Generation of genetic variation. Homologous and site specific recombination.Transposable genetic elements. DNA packaging in chromosomes. Genomic inprinting.Chromosomic mutations. Gene mutation. Mechanisms of gene mutation. Biological repair mechanisms. The genetics of development. Cancer as a genetic disease. Farmacogenomics.
Dallapiccola B., Novelli G.: Genetica Medica Essenziale Il Minotauro editore, Roma 2006
Nussbaum RL, McInnes RR, Huntington FW: Thompson & Thompson Genetics in Medicine 6th edition. WB Saunders Company Publisher 2001