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

LEARNING OUTCOMES (FURTHER INFO)

The course provides basic knowledge of

- 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

TEACHING METHODS

Mutations with dangerous phenotypic effects

Inherited human diseases with defects in DNA repair DNA recombination mechanisms,

the genetic basis of cancer

-Linked Genes: recombination and gene mapping in eukaryotes.

Linked and unlinked genes, crossing-over and recombination. frequency of recombination and genetic distance in gene tic mapping. Correlations among genetic, cytogenetic and physical mapping. 

Notions of mechanisms of genetic exchange and mapping in bacteria.

-Applications of molecular genetics in  Medicine

Use of Recombinant DNA Technology to Identify Human Genes

Molecular Diagnosis of Human Diseases

Human Gene Therapy

DNA Profiling

-Problem solving in the following subjects :

1)Applications of Mendel's Principles to humans

2)Extensions of Mendelism.-

3)Sex-linked traits

4)Linked Genes: recombination and gene mapping in eukaryotes.

5)Applications of molecular genetics in  medicine

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 

-Mutation: Source of the Genetic Variability Required for Evolution

 Basic Features of the Process. The -Molecular Basis of Mutation : chemical and physical mutagens. Screening Chemicals for Mutagenicity: The Ames test

Genetic/genomic elements(triple repeat) Mutation: Phenotypic Effects

Mutations with dangerous phenotypic effects

Inherited human diseases with defects in DNA repair DNA recombination mechanisms,

the genetic basis of cancer

-Linked Genes: recombination and gene mapping in eukaryotes.

Linked and unlinked genes, crossing-over and recombination. frequency of recombination and genetic distance in gene tic mapping. Correlations among genetic, cytogenetic and physical mapping. 

Notions of mechanisms of genetic exchange and mapping in bacteria.

-Applications of molecular genetics in  Medicine

Use of Recombinant DNA Technology to Identify Human Genes

Molecular Diagnosis of Human Diseases

Human Gene Therapy

DNA Profiling

-Problem solving in the following subjects :

1)Applications of Mendel's Principles to humans

2)Extensions of Mendelism.-

3)Sex-linked traits

4)Linked Genes: recombination and gene mapping in eukaryotes.

5)Applications of molecular genetics in  medicine

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

CLAUDIA CANTONI (President)

GABRIELLA PIETRA (President)

GIOVANNA BIANCHI

EUGENIO DEBBIA

ANNA MARCHESE

GABRIELLA PIATTI

MARIA ADELAIDE PRONZATO

OLIVIERO VARNIER

MARIA CRISTINA MINGARI (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 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

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

 Students must make an appointment to talk to professors.(e-mail phone)