- Docente: Elena Bonora
- Credits: 7
- SSD: BIO/13
- Language: English
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: Single cycle degree programme (LMCU) in Medicine and Surgery (cod. 9210)
Learning outcomes
Define the structural components of eukaryotic cells including the membrane, organelles and cytoskeleton. Describe fundamental cellular processes, including cell movement, targeting and trafficking, cell-cell communication, cell cycle, cell division, and apoptosis. Describe the structure and function of chromosomes and genomes. Recognize the pattern of transmission of hereditary characters and exceptions to mendelian inheritance. Identify the types, causes and biological consequences of genetic variation. Explain the relationship between genetic, physical, and cytogenetic maps. Apply the principles of population genetics to calculate genotype and allele frequencies.
Course contents
- Basic components of cells
- The prokaryotic cells
- The eukaryotic cells
- The cell membrane: structure and function
- Cytoskeleton: structure and function
- Mitochondria and mitochondrial networks
- Endocytosis / lysosomes / cellular autophagy
- Cell cycle and signaling pathways
- The nucleus: DNA structure and genome organization,
- DNA transcription and the translation machinery
- Cell division: mitosis and meiosis, the mechanism of recombination and crossing over
- DNA mutation and mechanisms of DNA repair
- Human chromosome structure and their abnormalities, Copy Number Variations
- Mendel’s Laws of Heredity, pedigrees, mendelian traits
- Hardy Weinberg equilibrium
- Autosomal dominant traits
- Autosomal recessive traits
- X-linked traits, maternally inherited disorders, exceptions to Mendelian disorders
- Technologies for disease gene discovery (linkage analysis, positional cloning, NGS)
- Elements of complex traits studies, the concept of linkage disequilibrium
- Models for studying genetic diseases and genome modification
Readings/Bibliography
Lectures will be based on relevent peer-reviewed papers and selected chapters from:
-Alberts et al Molecular biology of the CELL VI edition.
- Strachan and Reads Human Molecular Genetics IV edition.
PDF of lectures and papers will be provided during the course in the dedicated AMS campus space.Teaching methods
The teaching will be carried using ppt presentation and interactive use of dedicated databases and softwares during the teaching hours.
Office hours
See the website of Elena Bonora