- Docente: Elena Maestrini
- Credits: 6
- SSD: BIO/18
- Language: English
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: First cycle degree programme (L) in Genomics (cod. 9211)
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from Oct 08, 2024 to Jan 31, 2025
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
- Introduction to genetics
- Mendelian Genetics
- Gregor Mendel and basic principles of heredity; monohybrid crosses (dominance and segregation); dihybrid crosses (independent assortment)
- Predicting the outcome of genetic crosses; probability and Chi-Square test
- Cell division, mitosis and meiosis, chromosomal basis of inheritance
- Sexual reproduction, mitosis and meiosis.Chromosome theory of inheritance
- Sex determintion and sex-linked inheritance
- Dosage compensation in mammals
- Human pedigree analysis
- Extensions and modifications of basic mendelian principles
- Allelic variation and gene function; why some alleles are dominant and other recessive; types of dominance, reduced penetrance, lethal alleles.
- Genetic heterogeneity, gene interactions and epistasis.
- 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
- Genetic variation, DNA repair and recombination
- Genetic variability; mutation and polymorphisms; types of genetic variants; molecular basis of mutations; point mutations and their consequences; mutagenesis
- DNA repair mechanisms; DNA recombination mechanisms
- Variation in chromosome number and structure; mechanisms of structural variation
- Population genetics
- Variation in populations; the Hardy-Weinberg equilibrium
- Factors that alter allele and genotype frequencies in populations
- Overview of basic techniques in molecular genetics and genomics
- Basic techniques used to identify, amplify, clone and sequence genes; DNA libraries; genetic, cytogenetic and physical maps
- The Human Genome Project; map based cloning of genes; association and linkage disequilibrium
- Analyzing genomic variation
- Introduction to complex traits
- Heritability
- Mapping complex traits
- Heritability
LABORATORY practicals
•Genomic DNA extraction from buccal swab cells
•PCR amplification
•SNP Genotyping by restriction enzyme digestion
Readings/Bibliography
Recommended textbook:
Genetics: From Genes to Genomes
Goldberg-Fischer-Hood-Hartwell
McGrawHill Education
Other textbooks:
Introduction to Genetic Analysis, by Griffiths, Wessler, Carroll, and Doebley.
Principles of Genetics , by D. Peter Snustad, Michael J. Simmons
Genetics. Analysis & Principles, by Robert J.Brooker
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)
Laboratory practicals:
In order to attend this activity all students (including all the international incoming exchange students, i.e. ERASMUS)
must attend Module 1, 2 online https://www.unibo.it/en/study/life-at-university-and-in-the-city/health-and-assistance/health-and-safety/online-course-on-health-and-safety-in-study-and-internship-areas
while Module 3 on health and safety is to be attended in class. Information about Module 3 attendance schedule is available on the website of your degree programme
https://corsi.unibo.it/1cycle/Genomics/health-and-safety-mandatory-training
Assessment methods
Final written exam including multiple choice questions, questions with open answers and problem solving
Teaching tools
Course materials (ppt presentazions, problems and solutions, suggested readings) will be available here https://virtuale.unibo.it
Office hours
See the website of Elena Maestrini
SDGs

This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.