OVERVIEW

This course provides a basic outline of the principles of classical genetics and of the main molecular and cellular mechanisms that are involved. Methods to determine the relative positions of genes in the genome are explained, and various patterns of inheritance are described. The main areas that are covered are: transmission genetics, gene and genome structure, stability and variability mechanisms.

AIMS AND CONTENT

AIMS AND LEARNING OUTCOMES

At the end of the course the student should be familiar with the fundamental concepts on

the - general bases of inheritance with particular attention to those of man

- the principles of molecular genetics that are the basis of Mendelian characters and pathologies

- the mechanisms that underlie and the consequences of gene mutations

- applications in the medical field of modern techniques of molecular genetic and genomic analysis. 

The students will be able to describe the mechanisms of hereditary transmission and calculate the risk of transmission of Mendelian diseases

TEACHING METHODS

The course consists of 28 hours of classroom training activities closely integrated with the practical part. 16 hours will be theoretical lessons on all the topics of the program, 8 hours will be characterized by interactivity with the students to solve problems of genetics and 6 hours of seminar activities, also interactive, dedicated to the  of topics of genetics and genomics (methods and opportunities)  and to their ethical implications, conducted jointly by the different teachers of the integrated course.

SYLLABUS/CONTENT

Basic Principles of Inheritance: Mendel's Study of Heredity. Applications of Mendel's Principles to eukaryotes followed by an introduction to humans (Notions of pedigree analysis, features of autosomal dominant and recessive inheritance)

-Extensions of Mendelism.: Allelic variation, Gene-gene interaction, gene-environment interaction. Gene Action: from genotype to phenotype

-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.

-X-linked gene expression regulation :

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

-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. 

-Problem solving in the following subjects :

1)Applications of Mendel's Principles to humans

2)Extensions of Mendelism.

3)Sex-linked traits

4) Recombination and gene mapping 

-Mutation: Source of the Genetic Variability Required for Evolution

 Basic Features of the Process. The -Molecular Basis of Mutation: chemical and physical mutagens, geentic and genomic elements. 

Mutation: Phenotypic Effects

Mutations with dangerous phenotypic effects

Inherited human diseases with defects in DNA repair DNA recombination mechanisms, the genetic basis of cancer

-Applications of molecular genetics in  Medicine

-Epigenetics and genomic imprinting 

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

WILLIAM BRUNO (President)

VINCENZO DI PILATO (President)

PAOLA GHIORZO (President)

MARIA CRISTINA MINGARI (President)

GABRIELLA PIETRA (President)

ALDAMARIA PULITI (President)

SONIA SCARFI' (President)

ANNA MARCHESE

LORENZA PASTORINO

GABRIELLA PIATTI

MARIA ADELAIDE PRONZATO

CLAUDIA CANTONI (President and Coordinator of Integrated Course)

LESSONS

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

Written test ( 30 multiple choice questions and one open question, all to be answered in 30 minutes) for the General Genetics section.
The examination for the integrated course  is made up of a single written exam for the 3 sub-sections.  The total amount of time allowed for the examination is 90 minutes.
The chance to carry out a supplementary oral examination  is available both to students whose final average mark is between 16 and 17/30 (14/30 at least for each module)  and  to those who wish to increase the mark (above 18/30) they obtained in the written examination

ASSESSMENT METHODS

Students are assessed ­by a final exam alone which aims to ensure that they have actually reached the required level of knowledge.

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 on molecular genetics and genomics

-the consequences of genetic variability regarding the relationships between genotype and phenotype 

The student, to pass the exam, needs to score  at least  18/30. The maximum scores of the open questions and of eachmultiple choice  questions are indicated on the text of the written text.

Exam schedule

FURTHER INFORMATION

All the topics covered in class can be found in the ”aula web” slides.
Any other, more in-depth material is mentioned at the end of the lesson and can be found in the “aula web” slides.
 https://www.aulaweb.unige.it