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.
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.
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.
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 textbooks include:
Ricevimento: Make an appointment by e-mail paola.ghiorzo@unige.it, or telephone 0105557255. Address: DiMI; Viale Benedetto XV, 6. Secondo floor , room 206
PAOLA GHIORZO (President)
PAOLO GIANNONI (President)
ALDO PAGANO (President)
LORENZA PASTORINO (President)
Students are assessed by a final exam (written and oral) which aims to ensure that they have actually reached the required level of knowledge.
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.
