Ateneo - UPO

The macro-topics proposed in the course are related to the inheritance of traits (human, bacterial, plant); genetic maps; bacterial, viral and eukaryotic genetics; molecular genetics; DNA and chromosomes; transcription; translation; mutations and their effects (including pathological effects) on the human, animal and plant phenotype; regulation of gene expression; gene frequencies and evolutionary forces; quantitative traits and their study approaches

Genetica, Binelli e Ghisotti, EdiSes, ed. 2023
Genetica, Pierce, Zanichelli, ed. 2016

The teaching aims to transfer to students the basic concepts of general genetics in order to understand the genetic basis at the root of certain traits and the molecular basis leading to the modification, including pathological modification, of the plant, human and animal phenotype. It is also intended to give students the ability to analyse, using statistical principles, a given genetic hypothesis and to test how characteristics of a population may vary in the presence of evolutionary forces.

Basic concepts of biology and statistics will favor understanding of the course topics.

Mode of delivery: Traditional with slides (PowerPoint). The course consists of approximately 64 hours of lectures and approximately 8 hours of theoretical exercises. The lectures will be accompanied by slide shows. In the practical exercises, the notions covered in the lectures will be applied and deepened by solving genetic problems. Course material will be made available via the UPO DIR platform. The material used in the exercises will be provided during the course

In general, after each of the 4 points of the syllabus has been covered, there is an exercise lesson that deals with the topics covered in the previous lessons. During the exercises, whenever possible, their ability to deal with problems and difficulties on specific topics is tested through direct interaction with students; in the latter case, suggestions and support on how to overcome the difficulty are provided.
Students with physical disabilities, Learning Disabilities or Special Education Needs can request specific services and tools via the Staff Sviluppo e Coordinamento Carriere e Servizi alle Studentesse e agli Studenti, consulting the University webpage: https://www.uniupo.it/en/services/services-students-physical-or-learning-disabilities
Students with disabilities, learning disabilities or special education needs, once they have contacted the University Staff, can refer to the tutor in charge of the course to define the examination modalities, concerning academic aspects

The examination is intended to assess the students' ability to apply the notions learnt during the course. The examination consists of a written test comprising multiple choice questions (19-22), open questions and genetic problems (2-4). The answers to the open questions and genetic problems will be judged on both content and appropriate language. Multiple choice questions will be awarded 1 mark; open questions and genetic problems will be awarded 3 marks. In the event of a wrong answer the mark awarded will be 0. The maximum total score is 31. The minimum score for passing the examination is 18. The questions cover the entire course subject. Consultation of any kind of material is not permitted during the written examination. The use of a calculator is recommended. The written examination lasts two hours (maximum).

• 1 Physical bases of inheritance. Cell cycle. Chromosomes, mitosis and meiosis; crossing over and differences among mitosis and meiosis; main principles of prokaryotes and eukaryotes biological cycles.
• 2 Transmission of genetic traits. Mendelian inheritance: segregation and independent trait assortments. Statistical elaboration of mendelian segregation. Extension of mendelian inheritance. Blood groups and denial of paternity. Analysis of mendelian inheritance in humans: family trees. Sex-linked inheritance. Genetic sex determination.
• 3 Chromosome theory of inheritance, linkage and recombination. Meiotic crossing-over. Gene mapping in diploid organisms. Map distance and genetic map construction. Statistical verification of linkage. Three-points back cross, interference and coincidence coefficient.
• 4 Gene functions: metabolic chains and hypothesis one gene-one enzyme. Genes interaction. Gene complementation. Main principles of pleiotropy, penetrance, expressivity.
• 5 Genetics of microorganisms: haploid bacteria. Bacterial titers. Mutants in bacteria and their selection. Plasmids. F factor and its characteristics. F’ factor and partial diploid bacteria. Transfer of genetic information in bacteria: conjugation, transformation, transduction. Virus genetics.
• 6 Cloning vectors. Cloning of DNA fragments. Genetic material manipulation. Restriction enzymes. Recombinant DNA. Transformation. Main principles of plant transformation.
• 7 Structure and composition of DNA and chromosomes. Structure of centromeres and telomeres. DNA replication in prokaryotes and eukaryotes. Differences in replication among pro- and eukaryotes.
• 8 Structure and classes of mRNAs. Proteins involved in transcription. The transcription processes in prokaryotes and eukaryotes. RNA maturation in eucariotes. Structure of the gene. Sizes of genes and introns. Multiple copy genes and gene families.
• 9 The genetic code and its characteristics. Protein synthesis phases in prokaryotes and eukaryotes. Differences in the translation process among pro- and eukaryotes.
• 10 Point mutations. Induced and spontaneous mutations. Molecular bases of mutations and their frequency. Reversion and suppression of mutation.
• 11 The karyotype and procedures to define a karyotype. Chromosomal mutations: deletions, duplications, inversions and translocations and their phenotypic effects.
• 12 Genomic mutations: euploidy and aneuploidy. Genetic diseases caused by aneuploidy. Autopolyploid and Allopolyploid (origin and characteristics).
• 13 Mutagenic agents. Ames test. Essentials on mutations by transposable elements in prokaryotes and eukaryotes. DNA repair mechanisms. Disorders caused by defects in DNA repair mechanisms.
• 14 Regulation of gene expression in prokaryotes. Regulation system for Lac and Trp operons. Post-transcriptional and post-translational regulations.
• 15 Principal elements of gene expression regulation in eukaryotes. Transcription factors and regulatory sequences. Regulation by combinatorial mechanisms. Regulation by alternative splicing, mRNAs stability, mRNA localization, RNA interference.
• 16 Population genetics. Model population, allelic and genotypic frequences. Hardy–Weinberg equilibrium and law. Implications of Hardy–Weinberg law. Gene frequency variation: mutation, selection, migration, genetic drift and inbreeding.
• 17 Quantitative genetics. Quantitative traits. Statistical concepts (distributions, average, variance, standard deviation, correlation, regression). Components of the phenotypic variance. Heritability. Artificial selection and response to selection. Main principles on molecular biology applications to study quantitative traits.

Knowledge and understanding: it is expected that from a course such as Genetics I characterised by specific and characterising topics, the discipline-specific level of knowledge, if students apply themselves with appropriate intensity, should be in line with international standards, putting students in a position to understand genetically-based problems in the human/animal and plant sectors.
Ability to apply knowledge and understanding: the exercise-based component of the course implies the transmission of the ability to apply the knowledge acquired during the theoretical lectures; an aptitude for solving problems of a genetic nature, correlated with an ability to understand the problem itself, is therefore expected.
Autonomy of judgement: an increased ability to make personalised, knowledge-based judgements on topics relating to genetics is expected.
Communication skills: increased knowledge-based communication skills on topics relating to genetics are expected.
Learning ability: knowledge of general genetics provides a sound cultural basis for learning various other disciplines, examples of which include cell biology, biochemistry, molecular biology. An improved learning ability in various biology-related disciplines is therefore expected.