AIMS AND CONTENT

AIMS AND LEARNING OUTCOMES

At the end of the course, students will have acquired theoretical and practical knowledge of the principal methodologies used for the study of nucleic acids and gene expression. They will be able to understand the principles, applications, and limitations of genetic material analysis techniques, including PCR, qPCR, cloning techniques, traditional DNA sequencing, and next-generation sequencing.

Students will also be able to interpret the results obtained through these methodologies and evaluate their use in different application contexts, including biological and biomedical research, biotechnology, diagnostics, and environmental and food monitoring.

Through practical laboratory activities, students will acquire basic operational skills in the execution of major molecular biology techniques, developing autonomy in the use of laboratory equipment, preparation of experimental materials, and critical analysis of experimental data.

Regarding the bioinformatics component, students will be able to use major biological databases and basic computational tools for the retrieval, comparison, and analysis of nucleotide and protein sequences, as well as interpret the results of sequence alignments and simple phylogenetic analyses.

TEACHING METHODS

• Lectures.
• Classroom exercises.
• Laboratory activities (mandatory attendance of at least 70%).

Working students may request a certificate of attendance for mandatory teaching activities for study-related work leave purposes.

Students with certified physical disabilities or learning disorders registered with the University may find information on support services at:

https://unige.it/disabilita-dsa

Students may also contact Professor Cristina Carbone (cristina.carbone@unige.it), DISTAV disability coordinator.

SYLLABUS/CONTENT

BIOMOLECULAR METHODOLOGIES (3 ECTS) – Pozzolini

The Biomolecular Methodologies section provides the theoretical and practical foundations of the main techniques used for the analysis, manipulation, and characterization of nucleic acids. Lectures illustrate the principles and applications of methodologies employed in biological, biomedical, and biotechnological research, while laboratory activities provide practical skills in major experimental procedures.

Lectures (2 ECTS)

• Nucleic acid extraction techniques.
• Qualitative and quantitative analysis of nucleic acids: agarose gel electrophoresis and microfluidic electrophoresis; spectrophotometric and fluorometric assays.
• Polymerase Chain Reaction (PCR): principles and applications.
• RNA reverse transcription; quantitative PCR (qPCR) and digital PCR (ddPCR): principles and applications.
• Recombinant DNA technology: vectors and gene cloning; restriction enzymes and restriction maps; production of recombinant proteins.
• DNA sequencing techniques: chemical sequencing and Sanger enzymatic sequencing.
• Next-Generation Sequencing (NGS) technologies.
• Genomic and transcriptomic analyses.

Practical Laboratory Activities (1 ECTS)

• Extraction of nucleic acids from biological samples.
• Electrophoretic analysis of DNA on agarose gels.
• Setup of reverse transcription and PCR reactions.
• Restriction enzyme digestion.

BIOINFORMATICS METHODOLOGIES (2 ECTS) – Bosi

The Bioinformatics section consists of lectures illustrating the biological and evolutionary theories underlying analytical techniques and databases, combined with practical sessions in which the methods presented are applied.

Topics include:

• Biological sequences and their functional and evolutionary significance.
• Sequence alignment and BLAST.
• Substitution matrices.
• Major biological databases and resources (NCBI, PubMed, Nucleotide, Protein, GenBank).
• Multiple sequence alignment.
• Concepts of phylogeny: hierarchical clustering, evolutionary distances, and linkage methods.
• Molecular phylogenetics and phylogenetic tree reconstruction.
• Calculation of statistical robustness indices for phylogenetic trees.
• Tree visualization and annotation.
• Horizontal evolution: phylogenetic reconciliation of horizontal gene transfer events.

RECOMMENDED READING/BIBLIOGRAPHY

For the Biomolecular Methodologies section, students are required to study the topics covered during lectures using an up-to-date university-level molecular biology textbook. Slides and teaching materials provided by the instructor are intended as support and study guidance but do not replace the reference text.

Recommended textbook specifically focused on molecular biology techniques:

Amaldi F., Benedetti P., Pesole G., Plevani P.
Tecniche e Metodi per la Biologia Molecolare
CEA – Casa Editrice Ambrosiana
ISBN: 978-88-08-92034-8

For the Bioinformatics Methodologies section, teaching materials will be made available on AulaWeb.

TEACHERS AND EXAM BOARD

Exam Board

MARINA POZZOLINI (President)

EMANUELE BOSI

CHIARA CERVETTO (President Substitute)

LESSONS

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

The examination consists of two assessments, one for Biomolecular Methodologies and one for Bioinformatics Methodologies.

Biomolecular Methodologies

Assessment is based on an oral examination covering the topics discussed during the course.

Bioinformatics Methodologies

Assessment is based on a practical test designed to evaluate the student's ability to use bioinformatics resources and analyze biological sequences.

The final grade is calculated as the average of the grades obtained in the two components.

The final grade may be increased by up to 1 additional point based on performance in the Biomolecular Methodologies laboratory activities.

Laboratory assessment will be based on:

• 50%: performance in experimental activities carried out in groups of three students;
• 50%: individual answers to two short questions related to the laboratory activities performed.

The maximum achievable grade is 30/30 cum laude.

ASSESSMENT METHODS

Biomolecular Methodologies Oral Examination

Students will answer two questions covering topics included in the course syllabus. They must demonstrate adequate knowledge of the main biomolecular methodologies, their operating principles, and their principal applications.

Assessment will consider:

• Accuracy of knowledge;
• Reasoning and critical thinking skills;
• Appropriate use of scientific terminology.

Bioinformatics Methodologies Examination

The practical test is designed to assess the student's ability to use biological databases and sequence analysis tools and to correctly interpret the results obtained.

Laboratory Activities

Laboratory performance may contribute up to 1 point to the final grade and will assess:

• Teamwork skills;
• Ability to apply theoretical knowledge;
• Ability to solve practical problems.

FURTHER INFORMATION

Attendance is recommended for theoretical lectures. However, according to the academic regulations, attendance is mandatory for at least 70% of laboratory activities.