Biology and genetics

A.Y. 2020/2021
12
Max ECTS
156
Overall hours
SSD
BIO/11 BIO/13 MED/01
Language
Italian
Learning objectives
The course aims to provide basic knowledge of:
- the structure and function of the macromolecules depositary of genetic information;
- the molecular basis of the expression of genetic information and its regulation;
- the mechanisms that control cell differentiation;
- the concepts of continuity and variability of genetic information in living organisms;
- the mode of transmission of hereditary characters and the mechanisms that can give rise to phenotypic variants in humans;
- the methodology of genetic analysis and its usefulness in medical practice
- the basic concepts of descriptive and inferential statistic and the basic concepts of probability theory.
Expected learning outcomes
· The student should be able to demonstrate adequate knowledge and understanding of the basic concepts of cellular and molecular biology.
· The student should be able to accurately describe the eukaryotic cell both morphologically and functionally. In particular, he must have acquired sufficient knowledge to explain the mechanisms of organization, expression and transmission of genetic information and the biological variability induced by mutations and the recombination process.
· The student should be able to make assumptions based on experimental data provided in the form of biological problems
· The student should be able to interpret and adequately translate the possible applications of the acquired biological knowledge in the medical field
· the student shold be able to integrate the acquired knowledge to explain the existing structure / function relationship for each component or cellular compartment and their application in the various biological systems and disease models
· The student should be able to make assumptions based on genetic data provided in the form of pedigrees or allele frequencies
· The student should be able to expose and explain, in a simple but rigorous way, the biological processes that are the basis of life.
· The student must be able to read, interpret and critically comment on a scientific article
· The student should be able to interpret statistical descriptive analysis and to apply probability methods to solve practical problems
Course syllabus and organization

Single session

Responsible
The lessons of the first semester will take place in mixed mode:
- in presence in the classroom with a limited number of students, who have booked themselves using Google Form and at the same time in synchrony through the "Teams platform" for students not present;
- the student is obliged to wear the surgical mask for the entire duration of his stay in the classroom and to sit in the free seats respecting the alternation of one occupied seat, one free seat, one occupied seat per single row;
- the lessons will also be video-recorded to allow students unable for documented needs to follow them in sync and made available on the teacher's Ariel / Teams website;
- the lessons will take place at the Vialba center as usual

Students must enter from the main atrium of the Lita Vialba teaching pavilion and undergo body temperature measurement using a Thermo-scanner. The entry / exit routes are differentiated and marked
Prerequisites for admission
The prerequisites consist of Cellular and Molecular biology, Genetics, needed to pass the entrance test to CdS. Furthermore, a deeper knowledge of the chemical structure of the main biological macromolecules is required.
Medical Statistics Module
No prior knowledge is required
Assessment methods and Criteria
The final written exam is structured in:
Section i: 10 multiple choice questions on Cellular Biology (tot. 5 marks)
Section ii. 20 multiple choice questions on Molecular Biology (tot. 10 marks)
Section iii: 20 multiple choice questions on Genetics (tot. 10 marks)
Section iv: 10 multiple choice questions on Statistics (tot. 5 marks)
In addition, at the conclusion of the practical section, students, on voluntary basis, can prepare an oral presentation with slides relating to a scientific article of biological / genetic interest that will be evaluated by the teachers (maximum 2 points)
Use of pocket calculator is allowed
The test results will be published on the ARIEL website of the course.
Molecular biology
Course syllabus
· DNA
DNA as the repository of the genetic information:
three-dimensional structure of DNA (secondary structure)
shape and size of DNA molecules (tertiary structure)
chromosome and chromatin structure (quaternary structure)
DNA replication
Biological importance of DNA synthesis in the transmission of the genetic information from one generation to another (replication) and in the "repair" of "damages" to DNA molecules.
Origins of replication and replicative forks
Problems posed at the molecular level by the characteristics of DNA and DNA polymerases
Molecular mechanism of replication
DNA repair
Mechanisms of occurrence of mutations in DNA:
- types of possible DNA damage
Mechanisms of molecular repair:
- repair of damage on single strand
- repair of double strand breaks
· RNA
Structure and differences with DNA
Molecular heterogeneity of RNA: coding and non-coding RNA
Transcription
Mechanisms of transcription in prokaryotes and eukaryotes:
- promoters and choice of the strand to be transcribed
- the RNA polymerases
- the transcription cycle: initiation, elongation, termination
RNA processing
Structure of prokaryotic genes
Structure of eukaryotic genes: the discontinuous gene.
RNA maturation pathways:
- terminal modifications: capping and polyadenylation
- splicing
- cleavage
- chemical modifications and editing
· PROTEIN
Translation
Definition and characteristics of the genetic code
Decoding the genetic code:
- role of tRNAs
- wobbling
- aminoacyl-tRNA synthetase and supercode
Ribosomes as the site of protein synthesis
Molecular mechanism of protein synthesis.
Post-translational modifications (PTM) of proteins (outline)
General features
Proteolytic cut
Main PTMs involving the addition of functional groups:
- phosphorylation
- acylation
- alkylation
- glycosylation
PTM involving the addition of other proteins or peptides:
- ubiquitylation
· REGULATION OF GENE EXPRESSION
General principles of gene expression regulation
The different steps in which the regulation of gene expression can take place: main differences between eukaryotes and prokaryotes
Transcriptional regulation:
- Regulation of transcription initiation:
- general and specific transcription factors
- enhancer, silencer and insulator
- signal integration and combinatorial control
Epigenetics:
Today's definition of epigenetics
Genetics vs Epigenetics
Epigenome and epigenetic mechanisms:
- DNA methylation
- post-translational modifications of the histone tails
- chromatin remodeling complexes
- ncRNA
Gene "silencing"
- X-inactivation
Post-transcriptional regulation:
Gene regulation at the level of mRNA maturation (alternative splicing), transport and localization, stability
Regulation of the translation start phase:
- transcript-specific
- global
- IRES (Internal Ribosome Entry Site)
Regulatory RNAs:
- RNA Interference (RNAi) and microRNAs
- long non-coding RNAs: biological functions, mechanisms of action and regulation
Practical activity: reading, interpretation and critical presentation of a scientific article

Genetic Module
-Gregor Mendel and the concept of digital inheritance
- Extensions to Mendelian heredity: Multiple alleles, sex-related characters, epistasis, incomplete dominance, codominance, lethal genes, conditional alleles, alleles with dose effect, incomplete penetrance, variable expressivity, characters influenced by sex, genes associated with the same chromosome.
- Sex-related characters
- Biochemical genetics
- Genetic and linkage maps (Morgan, Sturtevant). Crossing-over and recombination. Relationship between distance between genes and probability of crossing-over. Interference.
- Blood groups in humans.
- Family trees. Autosomal dominant inheritance, autosomal recessive, dominant X-linked, linked to recessive X
- Genetic of populations.
- The human genome, organization and evolution.
- Genetic modifications of cells and organisms. Genetic engineering: bacteria, plasmids, restriction enzymes
- Genes and molecules of the immune system.
- Genetic mapping and physical mapping,
- The genetic basis of tumors
- Genetic of twins.
-Cromosomes and cell reproduction
- Chromosomal variability
- Molecular Genetic Analysis and Biotechnology:
- Practical activity: reading, interpretation and critical presentation of a scientific article
Teaching methods
Frontal lectures: 12 hours in class for cellular Biology; 36 hours in class for molecular biology; 36 hours in class for Genetics; 24 hours in class for Statistic, during which the students can intervene with questions.
Practical exercises: 16 hours in class for cellular Biology; 16 hours in class for molecular biology; 16 hours in class for Genetics
All the lectures are supported by PowerPoint presentations, made available to the student on the ARIEL website. The textbook is recommended as a resource to help clarify concepts.
Teaching Resources
Titolo: L'essenziale di BIOLOGIA MOLECOLARE DELLA CELLULA,
Autore: ALBERTS B., JOHNSON A., LEWIS J., RAFF M., ROBERTS K., WALTER P.
Edizione: ZANICHELLI, BOLOGNA, quarta edizione,
Title: Principi di Genetica
Author: D.P. Snustad, M.J. Simmons
Edition: EdiSES, NAPOLI V/2014
Title: Genetica
Author: BA Pierce
Edition: ZANICHELLI, BOLOGNA, seconda edizione italiana
Title: Biologia e Genetica, III Ed.
Author: De Leo, Ginelli, Fasano -
Edition: EdiSES, NAPOLI
Titolo: Biologia Cellulare e Molecolare. Concetti ed esperimenti., quinta edizione,
Autore: KARP, G.
Edizione: EdiSES, NAPOLI
Titolo: Biologia e Genetica, III Ed.
Autore: De Leo, Ginelli, Fasano -
Edizione: EdiSES, NAPOLI
Titolo: Molecole, Cellule e Organismi
Autore: Coordinamento a cura di: E. Ginelli, M. Malcovati
Edizione: EdiSES, NAPOLI I/2016
Experimental biology
Course syllabus
Intracellular compartment morphological and functional organization and related diseases
- Protein sorting
-The cell cycle
-Apoptosi
- Principles of cellular communication
-Practical activity: reading, interpretation and critical presentation of a scientific article
Teaching methods
Frontal lectures: 12 hours in class for cellular Biology; 36 hours in class for molecular biology; 36 hours in class for Genetics; 24 hours in class for Statistic, during which the students can intervene with questions.
Practical exercises: 16 hours in class for cellular Biology; 16 hours in class for molecular biology; 16 hours in class for Genetics
All the lectures are supported by PowerPoint presentations, made available to the student on the ARIEL website. The textbook is recommended as a resource to help clarify concepts.
Teaching Resources
Titolo: L'essenziale di BIOLOGIA MOLECOLARE DELLA CELLULA,
Autore: ALBERTS B., JOHNSON A., LEWIS J., RAFF M., ROBERTS K., WALTER P.
Edizione: ZANICHELLI, BOLOGNA, quarta edizione,

Titolo: Biologia Cellulare e Molecolare. Concetti ed esperimenti., quinta edizione,
Autore: KARP, G.
Edizione: EdiSES, NAPOLI

Titolo: Biologia e Genetica, III Ed.
Autore: De Leo, Ginelli, Fasano -
Edizione: EdiSES, NAPOLI

Titolo: Molecole, Cellule e Organismi
Autore: Coordinamento a cura di: E. Ginelli, M. Malcovati
Edizione: EdiSES, NAPOLI I/2016
Medical statistics
Course syllabus
The role of statistics in the biomedical field.
Data collection and data management. Variables and data. Methodological approach to statistical analysis.
Descriptive statistics: construction and reading of frequency tables; construction and reading of the most commonly used graphs in medical statistics; calculation and interpretation of measures of central tendency and measures of dispersion (mean, median, centile, range, standard deviation).
Probability. Definition, axioms, calculation rules (sum, product, independence, conditional probabilities). The Bayes theorem.
Probability models: the binomial model and the hypergeometric model. The Gaussian model.
Some examples in the biomedical field: risks; diagnostic accuracy (sensitivity and specificity; likelihood ratios; predictive values).
Sampling, sample estimates, sampling distributions and statistical inference.
Interval estimation of parameters. The confidence intervals.
Hypothesis testing: inference and statistical significance.
Some applications in the genetic field. The chi-square test.
Teaching methods
Frontal lectures: 12 hours in class for cellular Biology; 36 hours in class for molecular biology; 36 hours in class for Genetics; 24 hours in class for Statistic, during which the students can intervene with questions.
Practical exercises: 16 hours in class for cellular Biology; 16 hours in class for molecular biology; 16 hours in class for Genetics
All the lectures are supported by PowerPoint presentations, made available to the student on the ARIEL website. The textbook is recommended as a resource to help clarify concepts.
Teaching Resources
Title: Statistica medica
Author: Martin Bland
Edition: Editore: Apogeo.

Title: Statistica medica
Author: Martin Bland
Edition: Editore: Apogeo

Title: Fondamenti di statistica per le discipline biomediche
Author: Marc M. Triola, Mario F. Triola
Edition: Pearson
Experimental biology
BIO/13 - EXPERIMENTAL BIOLOGY - University credits: 6
Practicals: 32 hours
Lessons: 48 hours
Professors: Biasin Mara, Saulle Irma
Shifts:
Professors: Biasin Mara, Saulle Irma
Gruppo 1
Professor: Biasin Mara
Gruppo 2
Professor: Biasin Mara
Medical statistics
MED/01 - MEDICAL STATISTICS - University credits: 2
Lessons: 24 hours
Professor: Casazza Giovanni
Molecular biology
BIO/11 - MOLECULAR BIOLOGY - University credits: 4
Practicals: 16 hours
Lessons: 36 hours
Professor: Caccia Sonia
Shifts:
Professor: Caccia Sonia
Gruppo 1
Professor: Caccia Sonia
Gruppo 2
Professor: Caccia Sonia