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 diseases

- the mechanisms that underlie and the consequences of gene variations

- 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 and  the modern principles of the scientific method and medical research, including translational aspects

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 scientific methods and biomedical research in genetics and genomics (methods and opportunities)  and to their translational implications, conducted jointly by the different teachers of the integrated 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

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 (translational implications)

-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

LESSONS

LESSONS START

Check lessons start here: https://easyacademy.unige.it/portalestudenti/

and 2024.aulaweb.unige.it  for updates

Class schedule

The timetable for this course is available here: Portale EasyAcademy

EXAMS

EXAM DESCRIPTION

Oral examination. The interview lasts approximately 20-30 minutes (for the three modules of the integrated course) and focuses on the program carried out during the lessons. It may include interpreting family trees and doing simple genetics exercises. Through the discussion of various topics, the Commission verifies the achievement of the training objectives set by the course.

ASSESSMENT METHODS

Students are assessed ­by a final exam  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  and translational implications  (cancer  genetics)

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

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