Ateneo - UPO

The course provides an understanding of the structure, organisation, replication and transmission of genetic material in prokaryotic and eukaryotic organisms. It also covers the basic concepts of population genetics and quantitative genetics.

Genetica principi di analisi formale; Anthony Griffith, 8th edition 2021 ; Ed. ZanichelliGenetica un approccio molecolare; Peter Russell, 6th edition 2024; Ed. PearsonGenetica, Binelli e Ghisotti, 2nd edition 2023, EdiSes, Genetica, Benjamin Pierce, 2nd edition 2016, Ed. Zanichelli

The course aims to provide students with a fundamental understanding of the organisation, transmission and expression of genetic material in prokaryotic and eukaryotic organisms. The main types of gene and chromosomal mutations will be examined in depth, with particular reference to the mechanisms that cause them and their phenotypic consequences.
The course will also provide the conceptual tools necessary to understand and recognise the different modes of transmission of hereditary traits, with particular attention to the principles of Mendelian inheritance and their extensions. Finally, the fundamental mechanisms of evolutionary processes will be introduced, enabling students to describe and interpret genetic variability within populations.

A basic knowledge of biology and the fundamental principles of statistics will be of great help in learning and understanding the topics covered in this course.

The course is delivered in a traditional format, comprising lectures supported by digital teaching materials (slides). The course comprises approximately 72 hours of lectures and approximately 8 hours of theoretical exercises. The lectures will be supported by slides prepared by the lecturer. The theoretical exercises will be aimed at applying and exploring in greater depth the content covered during the lectures, through the resolution and discussion of genetics problems.

Learning monitoring: Progress will be assessed on an ongoing basis through interactive questionnaires administered during lessons and through guided exercises designed to assess and consolidate the knowledge acquired. Students with disabilities, Specific Learning Difficulties (SLD) or Special Educational Needs (SEN) may request specific services and resources designed for them by contacting the Career Development and Coordination and Student Services Team and consulting the dedicated page on the University website:
https://uniupo.it/it/servizi/servizi-studenti-disabili-e-dsa
Students with disabilities, SLDs or SEN, once they have made contact with the University staff, may contact the course lecturer regarding the arrangements for the examination and any teaching-related matters.

The examination consists of a written paper comprising multiple-choice questions (19–25 questions), open-ended questions and genetics problems (2–4 questions). Answers to the open-ended questions and genetics problems will be assessed on the basis of the accuracy of the content, the ability to apply the knowledge acquired and the use of appropriate scientific language. Multiple-choice questions will be awarded 1 mark each, whilst open-ended questions and genetics problems will be awarded 3 marks each. No marks will be awarded for incorrect or missing answers. The maximum mark available is 31; the exam is considered passed with a minimum mark of 18. The questions will cover the entire course syllabus and will be designed to assess students’ understanding of the fundamental principles of genetics and their ability to apply them to solve specific problems. During the written examination, students will not be permitted to consult teaching materials or other aids, including mobile phones and electronic devices. The use of a calculator is permitted and recommended. The maximum duration of the examination is two hours.

• 1 The physical basis of inheritance. The cell cycle. Chromosomes, mitosis and meiosis; crossing-over and the differences between mitosis and meiosis; and an overview of the life cycles of eukaryotes and prokaryotes. • 2 Transmission of traits. Mendelian inheritance: segregation and independent assortment of traits. Statistical analysis of Mendelian segregation. Extension of the principles of inheritance. Blood groups and denial of paternity. Analysis of Mendelian inheritance in humans: family trees. Sex-linked inheritance. Genetic determination of sex. • 3 Chromosomal theory of inheritance, linkage and recombination. Meiotic crossing-over. Gene mapping in diploid organisms. Map distance and the construction of genetic maps. Statistical verification of linkage. Three-point cross, interference and the coefficient of coincidence. • 4 Gene function: metabolic pathways and the ‘one gene, one enzyme’ hypothesis. Gene interaction. Complementation. Concepts of pleiotropy, penetrance and expressivity. • 5 Genetics of microorganisms: haploid bacteria. Bacterial titration. Mutants in bacteria and their selection. Plasmids. Factor F and its characteristics. Factor F’ and the construction of partial diploids. Transfer of genetic information in bacteria: conjugation, transformation, transduction. Virus genetics.  • 6 Structure and composition of DNA and chromosomes. Structure of centromeres and telomeres. DNA replication in prokaryotes and eukaryotes. Differences in replication between prokaryotes and eukaryotes. • 7 Structure and classes of RNA. Proteins involved in transcription. The processes of transcription in prokaryotes and eukaryotes. RNA maturation in eukaryotes. Gene structure. Sizes of genes and introns. Multiple-copy genes and gene families. • 8 The genetic code and its characteristics. Stages of protein synthesis in prokaryotes and eukaryotes. Differences in translation between prokaryotes and eukaryotes. • 9 Cloning vectors. Cloning of DNA fragments. Manipulation of genetic material. Restriction endonucleases. Recombinant DNA. An introduction to plant transformation. • 10 Point mutations. Induced and spontaneous mutations. The molecular basis of mutations and their frequency. Classification of mutations. Reversion and suppression of mutations. • 11 The karyotype and techniques for determining the karyotype. Chromosomal mutations: deletions, duplications, inversions and translocations, and their effects on the phenotype. • 12 Genomic mutations: euploidy and aneuploidy. Genetic disorders caused by aneuploidy. Effects of polyploidy on the phenotype. Autopolyploidy and allopolyploidy.• 13 Mutagens. The Ames test. An overview of mutations caused by transposable elements in prokaryotes and eukaryotes. DNA repair mechanisms. Diseases caused by defects in DNA repair. • 14 Regulation of gene expression in prokaryotes. Regulatory systems of the Lac and Trp operons. Post-transcriptional and post-translational regulation. • 15 Key regulatory elements in eukaryotic gene expression. Transcription factors and regulatory sequences. Regulation by combinatorial mechanisms. Regulation mediated by alternative splicing, mRNA stability, mRNA localisation and RNA interference. • 16 Population genetics. Model population, allele and genotype frequencies. Equilibrium and the Hardy–Weinberg principle. Implications of the Hardy–Weinberg principle. Variation in gene frequencies: mutation, selection, migration, genetic drift and inbreeding. • 17 Quantitative genetics. Quantitative traits. Statistical concepts (distributions, mean, variance, standard deviation, correlation, regression). Components of phenotypic variance. Heritability. Artificial selection and response to selection. An overview of the application of molecular genetics to the study of quantitative traits.

KNOWLEDGE
• understand the chemical composition, structure and molecular processes of genetic material (replication, transcription and translation);
• understand the organisation of DNA within the chromosomes of prokaryotes and eukaryotes, the mechanisms of mutation and the associated repair systems;
• understand the basics of cell reproduction (mitosis and meiosis), Mendel’s laws and their extensions (multiple alleles, epistasis, penetrance and expressivity);
• be familiar with the chromosomal theory of inheritance, the role of sex chromosomes in sex determination, and structural and numerical variations in chromosomes (polyploidy, aneuploidy, deletions and duplications);
• understand the principles of recombination and the construction of genetic maps;
• be familiar with the genetics of microorganisms (bacteria, bacteriophages, yeast), the modes of gene transfer (conjugation, transformation, transduction) and the regulation of gene expression in bacteria;
• understand the fundamentals of population genetics (genetic variability, Hardy–Weinberg equilibrium, assortative mating, inbreeding, and evolutionary forces such as drift, migration, mutation and selection) and the principles of studying quantitative traits.
SKILLS
• be able to apply Mendel’s laws to solve linear genetic problems and to analyse and interpret human family trees;
• be able to use genetic recombination data to calculate distances and construct basic genetic maps;
• be able to identify phenotypic alterations resulting from gene mutations or from structural and numerical variations in chromosomes;
• be able to describe and compare the mechanisms of gene exchange and the systems regulating gene expression in microbial systems;
• be able to calculate allele and genotype frequencies by applying Hardy-Weinberg’s law to ideal population models.
TRANSVERSAL SKILLS
• The ability to present the course topics in writing in a clear and comprehensible manner, using correct scientific terminology;
• The ability to read, understand and comment on educational and scientific material from textbooks or other reliable sources on genetics;
• The ability to formulate simple biological hypotheses to link genotype variations to the phenotypic manifestations studied.