MOLECULAR TECHNIQUES IN GENETIC DIAGNOSTICS
cod. 1005374

Learning objectives

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

Prerequisites

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

Applications of Medical Genetics to the laboratory diagnostics

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

Bibliography

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

Teaching methods

Lectures and on site visit to a diagnostic laboratory
In the event of an emergency of any nature the educational activities will be performed on-line on the TEAMS Office 365 platform.

Assessment methods and criteria

Multiple choice questionnaries. In the event of emergencies of any nature that require learners and teachers to be far away from the teaching structures, the exam sessions will be completed online on the TEAMS Office 365 platform.

Other information

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2030 agenda goals for sustainable development