cod. 1007888

Academic year 2020/21
1° year of course - First semester
Professor responsible for the course unit
integrated course unit
6 credits
hub: PARMA
course unit

Course unit structured in the following modules:

Learning objectives

To give the bases for the understanding of the principles of the laboratory diagnostics of Medical Genetics


Preliminary knowledge of:
• DNA structure and replication
• Chromosome structure and human karyotype
• Gene structure, transcription and maturation of the mRNA.
• Protein structure. Structure and function of the enzymes
• Phenotypic variation at the cellular, tissue and individual level
• Genetic polymorphisms
• Mendelian inheritance in man
• Principles of population genetics
• Mutations as cause of variability
• Gene mutations. Types, location and genetic analysis
• Molecular mechanisms of the genetic mutations and their consequences for the synthesis and structure of the proteins
• Chromosomal aneuploidies and their pathogenetic mechanism

Course unit content

The genetic basis of human diseases

Full programme

Classification of the genetic basis of the diseases in man
Classification and effects of the mutations
The cytogenetics laboratory
The molecular genetics laboratory
Next generation sequencing
Pathogenicity criteria of the nucleotidic variants
Quality insurance in the laboratory of diagnostic genetics


Thompson & Thompson: GENETICS IN MEDICINE. Elsevier, Eight Edition, 2016

Teaching methods

Lectures and on site visit to a diagnostic laboratory

Assessment methods and criteria

Multiple choice questionnaries

Other information