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