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

• 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
    

Readings/Bibliography

Recommended textbook:

Genetics: From Genes to Genomes

Leland Hartwell, Michael L. Goldberg, Janice Fischer and Leroy Hood

7th edition

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

Lectures with powerpoint presentations; in class problem solving and exercise

Laboratory practicals:

attendence at this training activity requires to complete modules 1 and 2 in e-learning mode [https://www.unibo.it/it/servizi-e-opportunita/salute-e-assistenza/salute-e-sicurezza/sicurezza-e-salute-nei-luoghi-di-studio-e-tirocinio] and to attend module 3 of specific training on health and safety in the workplace. Information on the dates and methods of attendance of module 3 can be found in the appropriate section of the course website.

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