38836 - Genetics

Learning outcomes

At the end of the course, the student possesses knowledge about the basic mechanisms of transmission of genetic information, the preservation of its stability and the origin of variability. In particular, the student is able to use a specific scientific language and the most important methodological tools for the analysis of genetic variability.

Course contents

Introduction to genetics. Gene, allele, genotype, phenotype definition. Relation between genes and traits. Quantitative traits and QTL analysis.

Molecular genetics: the structure of DNA, DNA replication, mytosis and meioisis, gene expression, epigenetics. Genetic variability. Molecular basis of mutations. Point mutations and their consequences. Chromosomal mutations. Transposable elements. Recombinant DNA technology: OGM, CRISPR Cas system,  with mention of European regulations, analysis of some  specific cases, and discussion of benefits and issues that have arisen.

Mendelian genetics, monohybrid crosses, dihybrid crosses (independent assortment), probability and Chi-Square. Mitosis and meiosis, chromosomal basis of inheritance, sex determination and sex-linked characteristics, dosage compensation in mammals. Human pedigree analysis.

Extensions of mendelian genetic analysis, multiple alleles, lethal alleles, types of dominance, penetrance, gene interactions and epistasis, Maternal effect, interaction of genes and environment. Non-mendelian inheritance: mitochondria and chloroplasts. Linked genes, recombination, constructing genetic maps with recombination frequencies. Bacterial genetics: conjugation, trasduction, transformation.

Population genetics: allele and genotype frequencies; Hardy-Weinberg equilibrium. Forces disturbing H-W equilibrium: assortative mating,  mutation, genetic drift, gene flow, selection.

Readings/Bibliography

No specific text-book is required. The following textbooks can be used as a reference:

Pierce B.A. "GENETICA Edit. Zanichelli (2016)

Russell P.J. “GENETICA Un approccio molecolare” - Edit. Pearson (2019)

Griffiths A.J.F. et al. "GENETICA. Principi di analisi formale" Edit. Zanichelli (2021)

Goldberg M. et al. "GENETICA. Dall'analisi Formale alla genomica", Terza Edizione (2022), Ed. Mc Graw Hill

Teaching methods

Lectures with powerpoint presentations; in class problem solving and exercises

Assessment methods

Written exam (including multiple choice questions, questions with open answers and problem solving)

Teaching tools

Ppt presentations and scientific papers will be available

Office hours

See the website of Nicola Facchinello