Genetica 3

The Genetics course is designed to provide students with the fundamental principles of classical, molecular, and population genetics, while placing these topics within an integrated framework that complements the other biological disciplines included in the Bachelor's Degree Programme in Biological Sciences.

Knowledge and understanding

By the end of the course, students will have acquired fundamental knowledge of:

• Mendelian genetics and genetic cross analysis;
• the chromosomal theory of inheritance;
• population genetics and the Hardy–Weinberg equilibrium;
• the structure and organization of the genetic material;
• genetic mutations and their effects;
• gene expression and its regulation;
• the principal methods for DNA analysis.

Applying knowledge and understanding

By the end of the course, students will be able to:

• analyze genetic crosses and interpret pedigrees;
• apply Mendelian models of inheritance;
• calculate allele and genotype frequencies;
• solve problems in classical and population genetics;
• interpret experimental genetic data;
• consult and use biological databases and scientific literature.

Making judgements. Students will develop the ability to critically evaluate genetic data and interpretative models, with particular reference to the analysis of genetic crosses, pedigrees, and population data.

Communication skills. Students will be able to explain genetic concepts using appropriate scientific terminology.

Learning skills. Students will acquire the skills necessary to independently explore advanced topics in genetics and genomics through the use of biological databases and the scientific literature.

The course is delivered through face-to-face lectures supported by PowerPoint presentations and other multimedia teaching resources, including videos. Classroom exercises and formative in-course assessments are also included.

Should the course be delivered in online or blended-learning mode, any necessary adjustments to the teaching methods may be introduced to ensure that the intended learning outcomes are achieved and that the course syllabus is fully covered.

Information for students with disabilities and/or specific learning disorders (SLD). In accordance with current legislation and to ensure equal learning opportunities, students requiring accommodations are encouraged to arrange an individual meeting with the course instructor in order to discuss any appropriate compensatory and/or dispensatory measures based on the learning objectives and their specific needs. Students may also contact the departmental CInAP (Centro per l'Integrazione Attiva e Partecipata – Services for Students with Disabilities and Specific Learning Disorders) representative.

Students are expected to have acquired the basic knowledge provided by the first-year courses that introduce the organization of living matter and the structure and function of the cell. In particular, the prerequisite knowledge is mainly provided by the courses in Chemistry, Cytology and Histology, Botany, and Zoology, which students are expected to have already completed.

Specifically, students should possess basic knowledge of:

• the organization of prokaryotic and eukaryotic cells, as well as the organization of viruses;
• mechanisms of cell division in prokaryotes and eukaryotes;
• the major groups of living organisms, including bacteria, protozoa, fungi, plants, and animals.

This background knowledge is considered essential for a full understanding of the topics covered in the course.

Attendance is compulsory, in accordance with the Academic Regulations of the Degree Programme. Participation in all teaching activities, and particularly in classroom exercises, is considered essential for achieving the intended learning outcomes of the course.

Mendelian genetics. Genotype and phenotype. Monohybrid and dihybrid cross. Relations between the alleles: complete and incomplete dominance, co-dominance and recessivity. Multiple alleles. The Epistasis. Mitosis: chromosome configuration at different stages of the cell cycle. Meiosis: random assortment of chromosomes, crossing-over and gametes formation. Haploidy and diploidy.

The Chromosomal theory of heredity: the Morgan experiments. Gene linkage and genetic mapping. Probability and statistics to analyze the transmission of Mendelian traits. The chi-square test. The pedigree analysis in the study of inherited traits.

Population Genetics: allele and genotype frequencies. Mendelian populations and Hardy-Weinberg principle for loci with two alleles. Genetic structure of populations (outline).

The genetic material. Experiments to identify the genetic material: Griffith, Avery-McLeod-MacCarty, Hershey and Chase. The structure of DNA and RNA molecules. Characteristics of the genome in the present organisms. Organization of Eukaryotic chromosomes. The human karyotype: main methods to preparation and analysis.

Mutations. Mutations in somatic and germ cells. Point mutations: characteristics and effects. Molecular basis of mutations. Mutations in the number and in the structure of the chromosomes. The main mechanisms of the spontaneous mutations. Mutagenic environmental factors: physical, chemical and biological agents. Role of the mutations in the evolution of the genes and their products. Oncogenes and antioncogenes: main features a mechanisms of activation.

Genes and DNA. The central dogma of genetics: replication, transcription and translation. The genetic code: definition and properties. Historical evolution of the functional definition of the gene. The prokaryotic and eukaryotic genes. The evolution of eukaryotic genes. The genes in multiple copies and gene families. The ortholog and paralog genes. Pseudogenes. The regulation of gene expression; main models of regulation in prokaryotes and eukaryotes. Outline of developmental genes and differentiation.

Basic Methods for DNA analysis. Preparation of genomic DNA, PCR, enzymatic cut, electrophoresis, sequencing. The RFLP and their use in diagnostics.

Exercises. Mendelian genetics. Statistic probability assay. Analysis of family trees. Construction of genetic maps. Human karyotype analysis. Allelic, phenotypic and genotypic frequencies. Online public databases: different types and methods to use them. Scientific articles: types and organization of the various paragraphs. The multidisciplinary and specialized scientific journals. Bibliographic references in articles and scientific reports. Websites that can be used for bibliographic searches.

1. Binelli, Ghisotti e altri. GENETICA. EdiSES, Napoli
2. Russel. GENETICA: UN APPROCCIO MOLECOLARE. Pearson Italia, Milano.
3. Griffiths e altri. GENETICA: PRINCIPI DI ANALISI FORMALE. Zanichelli, Bologna.
4. Russel PJ. I-GENETICS: A MOLECULAR APPROACH. Benjamin-Cummings Pub Co Eds. ISBN-10: 0321772881. ISBN-13: 978-0321772886
5. Griffiths et al. AN INTRODUCTION TO GENETIC ANALYSIS. W H Freeman & Co Eds.; 11 edition. ISBN-10: 1464109486. ISBN-13: 978-1464109485.Testi in lingua inglese

Final examination

The final examination consists of:

• Written examination, consisting of the following sections:
• 20 multiple-choice questions (1 point for each correct answer; −0.25 points for each incorrect answer; 0 points for unanswered questions);
• one open-ended question covering any topic included in the course syllabus. This question is graded on a scale from 0 to 5 points, taking into account the relevance and completeness of the answer, the correct use of scientific terminology, the ability to provide appropriate examples, and the clarity and accuracy of scientific expression.
• one applied genetics exercise involving classical genetics (e.g., pedigree analysis, genetic map distance calculation, allele frequency estimation, etc.). The problem consists of five questions, each worth up to 1 point, for a total score ranging from 0 to 5 points;
• Oral examination. Students may take the oral examination only after obtaining a score of at least 18/30 in the written examination. Students who obtain a score between 16/30 and 17.75/30 ("conditionally admitted") may also choose to take the oral examination. The oral examination includes discussion of any mistakes made in the written examination and questions covering the entire course syllabus. It begins with broad, general questions and may progress to more in-depth discussion depending on the student's responses.
• Final assessment. The final grade is based on the relevance and quality of the answers, the ability to integrate concepts from different topics, the appropriate use of scientific terminology, and the student's communication skills. Performance in the written examination is also taken into consideration.

Mid-term assessments

During the course, students will take practice written examinations for formative assessment purposes.

The final mid-term assessment, which covers all topics taught during the course, contributes to the final evaluation provided that the student obtains a passing score (≥ 18/30). Students who pass this assessment may, at the first examination date of the first official examination session, proceed directly to the oral examination without taking the written examination.

Information for students with disabilities and/or specific learning disorders (SLD):

In accordance with current legislation and to ensure equal opportunities, students requiring accommodations may request an individual meeting with the instructor to discuss appropriate compensatory and/or dispensatory measures, consistent with the learning objectives of the course and their specific needs. Students may also contact the departmental representative of CInAP (Centre for Active and Participatory Inclusion – Services for Students with Disabilities and Specific Learning Disorders) for further assistance.

• Mendelian principles and their experimental demonstration
• Dominance relationships between alleles
• Mechanisms of monogenic inheritance
• Structure and organization of DNA
• The Meselson–Stahl experiment
• Point mutations and their phenotypic effects
• Chemical mutagens