90918 - Elements of Genetics

Learning outcomes

By the end of the module, the student possesses knowledge of the fundamental principles of heredity; he is familiar with the nature, transmission, expression, variability and manipulation of the genetic information and can rigorously interpret and critically evaluate 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 determination 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
    
• 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

Readings/Bibliography

Michael L. Goldberg and Janice Fischer

8th 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.

Assessment methods

Final written and optional oral exam. Written will include multiple choice questions.

The final written examination consists of a multiple-choice test comprising 31 questions. Scores are awarded according to the following criteria: +1 point for each correct answer and 0 points for each incorrect or unanswered question. Students will have 90 minutes to complete the examination. The maximum score obtainable by answering all questions correctly is 30 with honours. A minimum score of 18/30 is required to pass. At the student’s discretion, the oral examination may result in an adjustment of the written examination grade ranging from −1 to +3 points, depending on the quality of the answers given to the two questions asked by the instructor during the examination.

Attendance is mandatory for the course.

Students with specific learning disorders (DSA) or temporary or permanent disabilities may contact the University DSA Office to request any necessary adjustments to the examination arrangements.

The use of artificial intelligence (AI) during the assessment is prohibited. Any use of AI constitutes a breach of academic integrity.

Teaching tools

Course materials (ppt presentations, problems and solutions, suggested readings) will be made available to students by using "VIRTUALE" online platform.

Office hours

See the website of Giorgio Milazzo