502353 - GENETICS AND HUMAN BIOLOGY

courses

ID:

502353

Duration (hours):

72

CFU:

SSD:

GENETICA

Year:

2025

Date/time interval

Primo Semestre (01/10/2025 - 16/01/2026)

Course Objectives

Aim of this course is to achieve an adequate level of knowledge of: (1) the mode of transmission of hereditary characters at cellular, individual and population level. This will provide the student with the ability to evaluate the genetic variability of living organisms (in line with the 2030 Agenda for Sustainable Development, in particular with Goal 15 - Protect, restore and promote sustainable use of terrestrial ecosystems / halt biodiversity loss; (2) the structural and functional characteristics of the genetic material; (3) gene expression in prokaryotic and eukaryotic organisms. (4) molecular and phenotypic evolution; (5) human evolution based on genetic data.

Course Prerequisites

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

Teaching Methods

This course consists of lectures integrated by seminars and by exercise sessions that will allow students to practice on topics of formal, population and molecular genetics. Continuous monitoring of students’ progress and lesson comprehension is carried out throughout the course using Wooclap. 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 ad hoc.

Assessment Methods

No midterm exams are scheduled; however, continuous monitoring of students’ progress and lesson comprehension is carried out throughout the course using Wooclap. There will be a single final exam for the course (there are no intermediate exams) and it consists of two parts.The final exam consists of two parts. The first is a written text with usually 10 exercises with open and closed answers covering formal, population and molecular genetics. The weight of each exercise is reported in the text. Students who pass the written text (maximum score = 30/30) with a score of at least 18/30, will sustain an oral exam over the entire program of the course. The score of the written text is communicated by Esse3 usually within the day after the text. The oral exam is usually offered starting from the day after the written text.

During the lectures and exercise sessions numerous examples of the questions characterizing the written and oral exam are presented and discussed.

Texts

Reccomended textbooks:
- P.J. Russell – Benjamin Cummings - iGenetics. A Molecular Approach.
- D.P. Snustad e M.J. Simmons - John Wiley & Sons Inc- Principles of Genetics.
-G. Binelli e D Ghisotti- EdiSES - Genetica.

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, Feltrinelli.

Mitosis and meiosis. Mendelian genetics. The chromosome theory of heredity. Analysis of pedigrees. Sex-linked inheritance. Extrachromosomal inheritance. Sex determination. Recombination and chromosome mapping. Physical mapping. Karyotype. Genomic mutations, chromosome mutations (variation in number and structure). Polyploidy. Monosomy and trisomy in humans. Somatic and germinal mosaicism. The genetic material. Structure and function of the chromosome. Replication and transcription of DNA. Translation. Genetic code. Gene mutations. Population Genetics. The Hardy-Weinberg (H-W) principle. Genetic structure of populations. Evaluation of the genetic variability, consequences of mutation, genetic drift, migration, assortative union and natural selection. Founder effect and bottleneck. Genetic markers and their use for the reconstruction of human evolution. The emergence of evolutionary theory. Genetic variation (in phenotypes, in protein structure, in nucleotide sequences) in natural populations. Molecular evolution. Molecular phylogenies. Phylogenetic trees. Phylogeography. Rates of molecular evolution. Molecular clock. Molecular evolution and phenotypic evolution. Speciation. Evolution of the human species on the basis of recent data at the DNA level.

Topics object of exercise sections:
- Mitosis and meiosis.
- Mendel's laws.
- Sex linked transmission.
- Analysis of pedigrees.
- Association, genetic maps.
- Molecular Genetics: transcription, translation and genetic code.
- Population genetics, Hardy-Weinberg equilibrium.
- Reconstruction of molecular phylogenetic trees (mitochondrial DNA -mtDNA- and Male Region of Y chromosome -MSY-).

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.
It is worth to mention that some of the topics in this course, especially those of “population genetics”, are in line with the 2030 Agenda for Sustainable Development, in particular with Goal 15 - Protect, restore and promote sustainable use of terrestrial ecosystems / halt biodiversity loss.