87615 - Genetics

Learning outcomes

By the end of the module, the student gains knowledge of the fundamental principles of heredity; he is familiar with the nature, transmission, expression and variability of genetic information and is able to rigorously interpret genetic experimental data.

Course contents

Foundations of Genetics
-Introduction to genetics
-Mendelian inheritance and basic pronciples of heredity; monohybrid crosses (dominance and segregation); dihybrid crosses (independent assortment)
-Predicting the outcome of genetic crosses; probability and Chi--Square test
Chromosomal Basis of Inheritance
-Cell division, mitosis and meiosis
-Chromosome theory of inheritance
-Sex determination and sex-linked traits
-Dosage compensation in mammals
Studying inheritance patterns in humans
-Pedigree analysis
-Case studies on genetic diseases
Extensions of Mendelian Genetics
-Dominance relationships and allelic variation; why some alleles are dominant and other recessive
-Penetrance, expressivity, lethal alleles
-Gene interactions and epistasis
Linkage and Gene Mapping
-Linkage, recombination, gene mapping in Eukaryotes
-Linked genes and crossing over; constructing genetic maps with recombination frequencies
-Linkage analysis in human; DNA polymorphisms as genetic markers; the lod-score method
Overview of genetics of bacterial and viral genetic systems
Molecular Genetics and genetic variation
-DNA as the genetic material
-The flow of information from DNA to RNA to protein
-Molecular basis of mutations and DNA repair
-Types of genetic variants
-Effects of mutations on gene struction and function
-Variation in chromosome number and structure; mechanisms of structural variation
Population and Complex Traits
-Hardy–Weinberg equilibrium
-Evolutionary forces
-Heritability and complex traits
Genomics and technologies to study genomes
-PCR and basic DNA technologies
-SNP genotyping
-Introduction to modern genomics and DNA sequencing technologies

Laboratory Activities
Students will:
-Extract genomic DNA from buccal cells
-Perform PCR amplification
-Conduct SNP genotyping
-Interpret experimental results and discuss sources of error

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Workload
Total workload: ~150 hours (6 ECTS)
• Lectures and classroom activities: ~45 hours
• Laboratory: ~13 hours
• Self-study and practice: ~92 hours

Readings/Bibliography

Recommended textbook:

> Genetics: From Genes to Genomes

Goldberg-Fischer-Hood-Hartwell

McGrawHill Education

 

Other  textbooks:

• Genetics. Analysis & Principles, by Robert J.Brooker
  

• Introduction to Genetic Analysis, by Griffiths, Wessler, Carroll, and Doebley.

• Principles of Genetics , by D. Peter Snustad, Michael J. Simmons

• Concepts of Genetics, by Klug, Cummings, Spencer

 

Teaching methods

For learning purposes, attendance of lectures and lab practicals is recommended

The course provides Integrative Digital Didactic (DDI) instruments to support learning activities and exam preparation. On the Virtuale Platform, students will have access to:
- lecture slides, articles and links to web pages, made available prior to the lecture and subdivided for each topic in the syllabus
- links to videos and animations, as extra support to better understand the concepts illustrated in the lecture.
- A series of problems with solutions, divided by topic
- self-assessment quizzes, made available at the end of each course topic
- To stimulate students' interest and involvement, interactive activities are provided during the lessons (Wooclap platform)

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Health and Safety training

In order to attend this activity all students (including all the international incoming exchange students, i.e. ERASMUS)
must  attend Health and Safety mandatory training

https://corsi.unibo.it/1cycle/Genomics/health-and-safety-mandatory-training

General Training: Module 1 (online)

Specific Training - Medium Risk: Module 2 + Module 3 (online)

Assessment methods

Students will be assessed on their ability to:

• understand and explain the fundamental concepts of genetics;
• apply genetic principles and analytical methods to solve problems;
• interpret experimental and genetic data and draw evidence-based conclusions.

Assessment is based on the following components:

a) Final written examination (90%)

• Multiple-choice questions
• Open-ended questions
• Problem-solving exercises

b) Laboratory assessment (10%)

• Quiz assessing understanding of laboratory methods, experimental procedures, and interpretation of experimental results.

c) Optional formative assessment

• Virtuale self-assessment quizzes: students who complete all online quizzes within one week of their publication will be awarded one additional mark (up to a maximum final grade of 30/30 cum laude, where applicable).

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Use of Generative Artificial Intelligence (AI)

Generative Artificial Intelligence (AI) may be used to support individual learning, for example to obtain explanations of course topics, generate summaries, develop self-assessment activities, or explore concepts in greater depth. Students are responsible for critically evaluating AI-generated content and for ensuring that all submitted work reflects their own understanding and complies with the University’s policies on academic integrity.

The use of generative AI is not permitted during any examination or assessment. Any unauthorized use of AI or other electronic resources during an examination constitutes a violation of academic integrity and will be handled in accordance with University regulations.

During examinations:

• the use of electronic devices of any kind (including smartphones, tablets, smartwatches, and similar devices) is prohibited;
• the use of a scientific calculator is permitted;
• examinations are conducted in computer laboratories where internet access is temporarily restricted to ensure the integrity of the assessment.

Teaching tools

Course materials (ppt presentations, exercises and solutions, suggested reading, videos, supplementary teaching materials) will be available on the Virtuale website (virtuale.unibo.it).

Access is reserved for students enrolled in the course.

For learning purposes, attendance of lectures and of lab and practicals is recommended

 

NB Students with Specific Learning Difficulties or temporary or permanent disabilities:

please contact the relevant university office (https://site.unibo.it/studenti-con-disabilita-e-dsa/it) in advance, which will propose possible adjustments to the students concerned. The request for any adjustment must be submitted in advance (15 days before the exam date) to the lecturer, who will assess the appropriateness of the adjustments, taking into account the teaching objectives.

Office hours

See the website of Elena Maestrini