65644 - Human Genetics

Learning outcomes

By the end of the course the student knows the analysis of the human genome and the molecular basis of genetic disorders. In particular, the student learns the main approaches for the genetic analysis of Mendelian and complex traits (linkage analysis, association), the elements of molecular pathology and epigenetic mechanisms, the main bioinformatics tools for the analysis of the human genome and some common techniques used in the laboratory.

Course contents

Introduction to genetics

The basis of heredity: Mendel's laws; monohybrid crosses (dominance and segregation); dihybrid crosses (independent assortment); Predicting the outcome of genetic crosses

Structure and replication of DNA: DNA double helix

Gene expression; the central dogma: From DNA to RNA, from RNA to protein. Transcription, translation; the genetic code.

The eukaryotic cell cycle, cell division, mitosis and meiosis and the transmission of chromosomes

Chromosome theory of inheritance

Sex determintion and sex-linked inheritance; Dosage compensation in mammals

Organization of the human genome: Genome projects and sequencing 

Genetic variability; mutation and polymorphisms; types of genetic variants; point mutations and their consequences; Structural genomic variation; copy number variation; genotype/phenotype relationship

Genetic analysis of human traits: basic Mendelian pedigree patterns; complications to the basic pedigree patterns; Extensions and modifications of basic mendelian principles

Readings/Bibliography

Recommended Book

-Hartwell/Goldberg/Fischer/Hood. "Genetics: From Genes to Genomes". Sixth Edition, McGraw-Hill Education

Teaching methods

Lectures with powerpoint presentations; problem solving and exercises

Assessment methods

The final assessment verifies the candidate's skill on the topics discussed during the course.

The exam is written, lasts two hours and takes place in a computer room on the EOL platform. It consists of two exercises and a set of multiple-choice questions. The maximum mark for each exercise is fixed in advance and is visible by the student who takes the exam. Marks are given on the basis of the completeness, accuracy and appropriateness of the student's responses. The grading of multiple-choice questions is +0.75 if correct and 0 if wrong or absent. The sum of the marks for exercises and multiple-choice questions is 33. If such a sum results in a grade >=31, the overall final grade will be 30/30 cum laude. The minimum passing grade is 18/30.

Consulting textbooks or notes during the written exam is not allowed. Students are not permitted to use a mobile phone (and smart watch or similar electronic data storage or communication device).

A pocket calculator is necessary.

An identity card (or the UNIBO student card) is required to take part in the exam.

Teaching tools

The slides and the excercises presented during the lessons will be made available to students through the virtuale website

Office hours

See the website of Elena Bacchelli