AIMS AND CONTENT

LEARNING OUTCOMES

This module will provide a basic outline of the principles of classical genetics and of their main underlying molecular and cellular mechanisms. The course will cover both the function and the organization of genetic material, mainly in eukaryotes. Methods to determine the relative positions of genes in the genome will be explained, and different patterns of inheritance will be described. The main areas covered will be: transmission genetics, gene and genome structure, and stability and variability mechanisms. The course will also introduce students to simple genetics problems with specific interactive lessons.

AIMS AND LEARNING OUTCOMES

Upon completion of the course, students should be able to recognize and describe genetic phenomena and demonstrate knowledge of:

- General mechanisms of inheritance, with  particular attention to human heredity

- Fundamentals of molecular genetics mechanisms that underlie Mendelian inheritance patterns.

- Mutations: basic features of the process, molecular mechanisms and relative  consequences on the potential pathogenicity

- Applications of modern analytical techniques of molecular genetics and genomics to biotechnology and biomedicine.

TEACHING METHODS

The course consists of 40 hours of classroom training including 32 hours of theoretical lessons on all topics of the program, 6 hours dedicated to solving genetic problems and 2 hours of seminar activity designed to offer  the opportunity to reflect critically on the potential biotechnological applications of the genetics and genomics topics dealt with in the course. 

Any Student with documented Specific Learning Disorders (SLD), or with any special needs, shall reach out to the Lecturer(s) and to the dedicated SLD Representative in the Department before class begins, in order to liase and arrange the specific teaching methods and ensure proper achievement of the learning aims and outcomes.

SYLLABUS/CONTENT

1) Genes and genomes

Organization of gene structure and function

comparative description of Genomes (size and organization)

Structure and function of chromatin

The nucleosome as a fundamental unit of DNA packaging, and its role in gene expression regulation

2) Meiosis: Inheritance and variation 

Comparative analysis of meiosis and mitosis kinetics

Mechanisms contributing to genetic variation: (recombination,independent assortment, random fertilization)

3) Basic Principles of inheritance

Mendel's study of heredity. Applications of Mendel's principles to General genetics (eukaryotes)

Testing Hypotheses  about Patterns of Inheritance (Punnett  Square, branch diagram, probability methods )

4) Extensions to Mendel’s Laws for single gene inheritance

Allelic variation and gene function

Incomplete dominance. Codominance

Multiple alleles, lethal alleles

Notions on allelic variation effects on viability: phenotypic, sterility-causing, lethal

Pleiotropy: A single gene responsible for a variety of traits.

5) Extensions. to Mendel’s Laws for two or more  genes  determining one trait

Different models from 2-gene interaction

novel phenotypes, complementary gene action, epistasis

Gene-environment interaction, environmental effects on phenotype

Penetrance and expressivity

6) Problem solving in the following subjects

Applications of Mendel's Principles to eukaryotics

Extensions of Mendelism: incomplete dominance. Codominance, Multiple alleles, lethal alleles

Different models of Gene-gene interaction

Description of some examples of pleiotropic traits

7) Applications of Mendel's principles to Human genetics 

Testing inheritance-hypothesis through  Mendelian pedigree pattern analysis

8) Problem solving in the following subjects

Applications of Mendel's principles to Human genetics

Pedigrees analysis

Transmission probability of monogenic traits

9) Sex-linked traits

Sex-chromosomes and the chromosomal theory of inheritance

X-linked recessive and dominant inheritance and Y-linked inheritance

Molecular mechanisms of sex determination in humans,drosophila and other eukaryotes

10) Dosage Compensation of X-Linked Genes

Molecular mechanisms of X-chromosome dosage compensation in mammals, Drosophila and other eukaryotes

11) Linked Genes: Recombination and gene mapping in eukaryotes

Linked and unlinked genes, crossing-over and recombination

Frequency of recombination and genetic distance in genetic mapping

Correlations among genetic, cytogenetic and physical mapping

Notions of mechanisms of genetic exchange and mapping in humans and bacteria

12) Problem solving in the following subjects

Sex-linked traits in drosophila and humans

Linked Genes: recombination and gene mapping in eukaryotes and notions of linkage analysis in human genetics Simple examples of pedigrees

13) Polygenic inheritance and environmental effects

A Mendelian explanation of continuous variation in polygenic trait inheritance

Additive model of polygenic inheritance (continuous characters)

Polygenic threshold model for non mendelian discontinuous characters

Simple examples of both models

14) Mutation: Source of the Genetic Variability Required for Evolution

Basic Features of the Process

Somatic and germline mutations

Spontaneous and induced mutations

Physical, chemical agents as mutagens

Notions of DNA Repair mechanisms

15) Mutation: molecular basis and phenotypic effects

Mutations with dangerous phenotypic effects

Dominant and recessive lethal mutations

Conditional mutations as  powerful tools for studying gene function

Intra and intergenic suppressor mutations

More in-depth studies on mutational mechanisms which result in the exchange of repeated sequences, unstable expansion of triplet repeats,transposable genetic elements

16) Transposable Genetic Elements(TGE)

Transposable elements in bacteria

Cut-and-paste transposons in Eukaryotes

Retroviruses and Retrotransposons

Transposable Elements in Humans

The Genetic and Evolutionary Significance of Transposable Elements

17) Mitochondrial Inheritance

Molecular genetics mechanisms that contribute to uniparental (maternal)inheritance

Mitochondrial DNA mutations and human health

Chromatin Structure and Epigenetic effects

Genomic imprinting, DNA methylation, chromatin remodeling

Inheritance pattern of imprinted genes

18) The genetic basis of cancer

Cancer: a genetic disease

Role of Oncogenes, Tumor Suppressor Genes on failure of control over cell division and on cancer onset

Genetic Pathways to Cancer

Inherited cancer syndromes: defects in DNA replication, repair and recombination mechanisms

19) Molecular Analysis of Genetic Information

Use of Recombinant DNA Technology to Identify Human Genes and Diagnose Human Diseases

Molecular Diagnosis of Human Diseases

DNA Profiling

Problem solving in applications of molecular genetics to biomedicine

20) Seminar lesson in cooperation with the students

More in-depth explanations on course-related topics requested by the students.

RECOMMENDED READING/BIBLIOGRAPHY

Recommended textbooks include:

• Russell P.J. et al. - Genetica. Un approccio molecolare. Pearson.
• Hartwell L.H. et al. - Genetica. Mc Graw-Hill Company.
• Pierce B.A  et al. - Genetica. Zanichelli.

TEACHERS AND EXAM BOARD

Exam Board

PAOLA GHIORZO (President)

PAOLO GIANNONI (President)

ALDO PAGANO (President)

LORENZA PASTORINO (President)

LESSONS

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

Students are assessed ­by a final exam (written and oral) which aims to ensure that they have actually reached the required level of knowledge.

ASSESSMENT METHODS

Written test solving 3 or 4 genetic problems and 4 open questions, all to be answered in 75  minutes) for the Genetics section.
The examination for the main course  consists of a single written exam for the 2 sub-sections. The total amount of time allowed for the examination is 135 minutes.
The chance to carry out a supplementary oral examination is available both to students whose final average mark is 17/30 and  to those who wish to increase the mark (at least 27/30) they obtained in the written examination. 

In order to pass the examination and to reach a mark of at least 18/30, the students must prove their knowledge on:
- general mechanisms of inheritance, with  particular attention to human heredity

- fundamentals of molecular genetics mechanisms that underlie inheritance models

- basic features of the process and the Molecular Basis of the Mutation

- medical applications of modern analytical techniques of molecular egentics and genomics to biomedicine and biotechnology.