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 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.
- 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.
- Introduction to DNA replication.
- Mutagenesis and principal mechanisms of DNA repair.
- Translation, genetic code and its characteristics.
- Regulation of gene expression in prokaryotes: example of the lactose and tryptophan operons in Escherichia coli.
- 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.
- Epigenetics. Chromatin structure. Modifications of DNA and histones.
The course is completed with 16 hours of theoretical exercises, in which notions discussed in class will be applied and detailed, through the resolution of genetic problems.
- Transmission of characters. Mendelian inheritance: segregation and independent assortment of characters. Multiple 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.
- 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.
- Introduction to DNA replication.
- Mutagenesis and principal mechanisms of DNA repair.
- Translation, genetic code and its characteristics.
- Regulation of gene expression in prokaryotes: example of the lactose and tryptophan operons in Escherichia coli.
- 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.
- Epigenetics. Chromatin structure. Modifications of DNA and histones.
The course is completed with 16 hours of theoretical exercises, in which notions discussed in class will be applied and detailed, through the resolution of genetic problems.
Prerequisites for admission
Basic knowledge of statistics, principles of biophysics and knowledge of cellular biology.
Teaching methods
Lessons will be onsite in presence in the form of oral presentations with slides. The 16 hours of practical sessions will deal with problems of genetics to be solved by the students and solutions provided and commented by the teacher
Teaching Resources
Books.
"Principle of Genetics" Snustad/Simmons, 7th Edition.
"Genetics" Russel, 5th Edition
The slides presented during the Course will be available to the students on the Teams Genetics
"Principle of Genetics" Snustad/Simmons, 7th Edition.
"Genetics" Russel, 5th Edition
The slides presented during the Course will be available to the students on the Teams Genetics
Assessment methods and Criteria
Written examination in presence will include multiple choice questions, 5 genetic problems to be solved and one open question.
BIO/18 - GENETICS - University credits: 9
Practicals: 16 hours
Lessons: 64 hours
Lessons: 64 hours
Professors:
Dolfini Diletta, Mantovani Roberto
Professor(s)