500799 - GENETICS (AK)

courses

ID:

500799

Duration (hours):

72

CFU:

SSD:

GENETICA

Year:

2025

Date/time interval

Secondo Semestre (02/03/2026 - 12/06/2026)

Course Objectives

The aim of the course is to provide basic knowledge concerning the transmission and expression of hereditary traits in cells, individuals and populations. The course will also deal with the structural and functional features of genetic material, how genetic information is stored, coded and expressed in prokaryotes and eukaryotes. At the end of the course, the student is expected to (a) understand, be able to discuss and teach basic notions of genetics and (b) to be able to carry out the typical genetic analysis that are performed in a research laboratory.

Course Prerequisites

Basic knowledge of prokaryotic and eukaryotic (animal and plant) cell biology, chemistry and mathematics.

Teaching Methods

The course consists of lectures, which are integrated with exercise sessions. These sessions, which will take place during the course, will give students the opportunity to practise topics in formal, population and molecular genetics.

Assessment Methods

There will be a single final exam for the Genetics course (there are no intermediate exams). The final exam consists of two parts. The first is a written test with 10 exercises and questions covering formal, molecular and population genetics. For this test calculators can be used. The weight of each exercise is reported in the heading. Students who pass the written test (maximum score = 30/30) with a score of at least 18/30 will sustain an oral exam usually offered a few days (2-4) after the written test. The score of the written test is communicated by Esse3 usually the day after the test. The final score will be decided by the commission based on the written test and oral exam. Numerous examples of the questions characterizing the written and oral parts of the exam are presented and discussed during the lectures and exercise sessions.

Texts

Main textbook:
GENETICA, UN APPROCCIO MOLECOLARE. P.J. Russell. 5ed o 4ed Pearson
Alternative text:
PRINCIPI di GENETICA, D.P. Snustad e M.J. Simmons. EDISES, Napoli (4ed o 5ed)
Texts with exercises: Eserciziario di Genetica. Con guida alla soluzione di Daniela Ghisotti, Luca Ferrari, Editore: Piccin-Nuova Libraria. Genetica. Quesiti e soluzioni di Silvia Ghirotto, Maria Teresa Vizzari, UTET Università, First or Second Edition.

Mendel's experiments. Probability. Goodness of fit: chi-square test. Dominance and recessivity in terms of gain and loss of function. Mitosis and Meiosis. Chromosome theory of inheritance. Sex chromosomes and sex association. Nondisjunction. Karyotypes. Pedigree analysis. X inactivation. Mosaicism. Linkage and recombination. Construction of linkage maps. Three-point crosses. Map distance and physical distance. Mapping of human genes. Polytene chromosomes. Chromosomal mutations. Gene families. Variation in chromosome number and human pathologies. Monoploidy and polyploidy. Genetic variation. Population genetics. The Hardy-Weinberg (H.-W.) principle. Genetic structure of populations.

Nucleic acids. The DNA double helix. Genomes, chromatin and chromosomes. Unique and repetitive sequence DNA. Centromeres and telomeres. DNA replication. The genetic analysis of metabolic pathways. Examples of altered gene pathways: sickle cell anemia and cystic fibrosis. Transcription. RNAs: typologies and roles; RNA processing, splicing and editing. The genetic code: identification and features. tRNAs and the wobble mechanism. Protein synthesis. Basic techniques for the analysis of nucleic acids. The PCR and its applications.

Exercise topics:
- Mitosis and meiosis.
- Mendel's laws.
- Analysis of pedigrees.
- Association, genetic maps.
- Molecular Genetics: transcription, translation and the genetic code.
- Population genetics, Hardy-Weinberg equilibrium.

Course Language

Italian

More information

The course has a dedicated web site on the e-learning portal of the University of Pavia, Kiro, that students can access using their login credentials. For the categories of students identified by the Academic Senate in the session of March 23rd 2023, inclusive teaching methods will be implemented and provided on an ad hoc basis.