Genetics
A.Y. 2024/2025
Learning objectives
This course aims to provide students with the fundamental principles of formal, molecular and population genetics, that will be instrumental in the understanding of complex biological mechanisms.
Expected learning outcomes
At the end of the course, the student will acquire:
- basic concepts and terminology of genetics, cytogenetics and molecular genetics;
- capacity to formulate hypothesis on the Mendelian inheritance of biological traits;
- use of statistical methodologies to support and verify the hypothesis;
- capacity to determine the Mendelian inheritance in human pedigrees;
- consequences of mutations at genome, chromosomal and gene level;
- knowledge of the main mechanisms of control of gene expression in prokaryotes and eukaryotes;
- application of the genetic analysis to problems of population genetics.
- basic concepts and terminology of genetics, cytogenetics and molecular genetics;
- capacity to formulate hypothesis on the Mendelian inheritance of biological traits;
- use of statistical methodologies to support and verify the hypothesis;
- capacity to determine the Mendelian inheritance in human pedigrees;
- consequences of mutations at genome, chromosomal and gene level;
- knowledge of the main mechanisms of control of gene expression in prokaryotes and eukaryotes;
- application of the genetic analysis to problems of population genetics.
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course can be attended as a single course.
Course syllabus and organization
Single session
Responsible
Lesson period
First semester
Course syllabus
· Physical basis of heredity. Chromosomes, mitosis, meiosis and the biological cycles of eukaryotes and prokaryotes. Cell cycle. Introduction to DNA replication.
· Transmission of characters. Mendelian inheritance: segregation and independent assortment of characters. Multiple and lethal alleles. Statistical processing of Mendelian segregation. Analysis Mendelian inheritance in man: pedigrees. Blood groups and denial of paternity. Sex-linked inheritance. Genetic determination of sex.
· Chromosome theory of inheritance, linkage and recombination. Meiotic crossing-over. Mapping of genes in diploid organisms: map distance, interference. Mitotic crossing-over and mosaics.
· Function of the gene: one gene-one enzyme hypothesis. Interaction between genes. Complementation. Intragenic recombination.
· Genetics of microorganisms. Bacteria: mutants and their selection. Plasmids. Bacteriophages: virulent and temperate phages. Transfer of genetic material between bacteria by transformation, conjugation, and transduction.
· Structure of prokaryotic and eukaryotic genes. Introduction to transcription in prokaryotes and eukaryotes. Translation, genetic code and its characteristics.
· Changes in the structure of the genome. Gene mutations: molecular basis of mutations and their frequency. Reversion and suppression.
· Chromosomal mutations: deletions, duplications, inversions and translocations.
· Genomic mutations: euploidy and aneuploidy. Autopolyploidy and allopolyploidy.
· Mutagenesis and principal mechanisms of DNA repair.
· Regulation of gene expression in prokaryotes: example of the lactose and tryptophan operons in Escherichia coli.
· Inheritance of quantitative traits.
· Manipulation of the genetic material. Restriction endonucleases. Cloning vectors. Cloning of genes.
· Population Genetics. Genetic structure of populations. Hardy-Weinberg equilibrium. Forces that change gene frequencies in populations: mutation, assortative mating, selection, migration and genetic drift.
Tutorials:
The course is completed by 16 hours of theoretical exercises, in which the concepts covered in class will be applied and deepened, through the resolution of genetic problems.
· Transmission of characters. Mendelian inheritance: segregation and independent assortment of characters. Multiple and lethal alleles. Statistical processing of Mendelian segregation. Analysis Mendelian inheritance in man: pedigrees. Blood groups and denial of paternity. Sex-linked inheritance. Genetic determination of sex.
· Chromosome theory of inheritance, linkage and recombination. Meiotic crossing-over. Mapping of genes in diploid organisms: map distance, interference. Mitotic crossing-over and mosaics.
· Function of the gene: one gene-one enzyme hypothesis. Interaction between genes. Complementation. Intragenic recombination.
· Genetics of microorganisms. Bacteria: mutants and their selection. Plasmids. Bacteriophages: virulent and temperate phages. Transfer of genetic material between bacteria by transformation, conjugation, and transduction.
· Structure of prokaryotic and eukaryotic genes. Introduction to transcription in prokaryotes and eukaryotes. Translation, genetic code and its characteristics.
· Changes in the structure of the genome. Gene mutations: molecular basis of mutations and their frequency. Reversion and suppression.
· Chromosomal mutations: deletions, duplications, inversions and translocations.
· Genomic mutations: euploidy and aneuploidy. Autopolyploidy and allopolyploidy.
· Mutagenesis and principal mechanisms of DNA repair.
· Regulation of gene expression in prokaryotes: example of the lactose and tryptophan operons in Escherichia coli.
· Inheritance of quantitative traits.
· Manipulation of the genetic material. Restriction endonucleases. Cloning vectors. Cloning of genes.
· Population Genetics. Genetic structure of populations. Hardy-Weinberg equilibrium. Forces that change gene frequencies in populations: mutation, assortative mating, selection, migration and genetic drift.
Tutorials:
The course is completed by 16 hours of theoretical exercises, in which the concepts covered in class will be applied and deepened, through the resolution of genetic problems.
Prerequisites for admission
A good knowledge of citology and histology is requested.
Teaching methods
Traditional modes of delivery, based on interactive lectures supported by slide show.
Students will be invited to actively participate to the resolution of genetic problems in order to improve their logical capacities, the understanding of the topics and the formulation of hypothesis to explain experimental data.
Students will be invited to actively participate to the resolution of genetic problems in order to improve their logical capacities, the understanding of the topics and the formulation of hypothesis to explain experimental data.
Teaching Resources
- Binelli and Ghisotti -Genetica - II ed. - EdiSES 2023
- Griffiths et al - Genetica - VIII ed. - Zanichelli 2021
- Russell - Genetica -- V ed. - Pearson - 2019
Exercises, which are performed during the hours of tutorials, and lectures presented during the course will be available on MyAriel web site
- Griffiths et al - Genetica - VIII ed. - Zanichelli 2021
- Russell - Genetica -- V ed. - Pearson - 2019
Exercises, which are performed during the hours of tutorials, and lectures presented during the course will be available on MyAriel web site
Assessment methods and Criteria
The exam will assess the student's ability to apply the concepts learned during the course. The exam is written and consists of the resolution of genetic problems (70%) and multiple choice questions (30%). The questions cover the entire subject of the course. Time available: 2 hours.
BIO/18 - GENETICS - University credits: 9
Practicals: 16 hours
Lessons: 64 hours
Lessons: 64 hours
Educational website(s)
Professor(s)
Reception:
upon appointment requested via email
upon appointment requested via email
Reception:
upon request of an appointment