MEDICAL GENETICS
Learning outcomes of the course unit
The course is thought as an introduction to genetics starting from the mendelian theory of inheritance to molecular genetics. The purpose of the course is to gain understanding of the principles of heredity, the relationships between the genes and normal or disease traits and the current advances in genetics applied to humans.
Course contents summary
Mitotis, meiosis. Principles of mendelian inheritance (Mendel’s laws), physical basis of mendelian inheritance, expression and interaction of genes, crossing over and linkage, mapping, biochemical nature of genetic material, replication and repair of DNA, the genetic code, the “central dogma” of molecular genetics, mutation. Mitochondrial heredity. Polymorphisms, multiple alleles (ABO and MHC systems). Mechanisms of genetic transmission in humans. Gene structure and function. Mechanisms of gene regulation in prokaryotes (the operon model) and eukaryotes. Human cytogenetics and chromosomal abnormalities. Polygenic inheritance. Principles of population genetics. Principles of genetic manipulation and recent developments in molecular genetics diagnosis of diseases.
Recommended readings
La Genetica: Campbell N.A. Reece JB. Zanichelli, Bologna
Genetica medica: Novelli G - Giardina E : Genetica medica pratica, Aracne editrice, Roma
