MEDICAL GENETICS DIAGNOSTIC TECHNIQUES
cod. 15656

Academic year 2019/20
2° year of course - First semester
Professor
PERCESEPE Antonio
Academic discipline
Scienze tecniche di medicina di laboratorio (MED/46)
Field
Scienze e tecniche di laboratorio biomedico
Type of training activity
Characterising
14 hours
of face-to-face activities
2 credits
hub: PARMA
course unit
in ITALIAN

Integrated course unit module: GENERAL PATHOLOGY AND MEDICAL GENETICS

Learning objectives


After completing the course the student will be able to know and understand:
- The kinetic mechanisms of nucleic acids as a general basis of molecular diagnostics
- The methods of investigation of the human genome
- The choice of the method to use in relation to the diagnostic needs
By applying this knowledge critically acquired, the student will be able to:
- Use the most common molecular analysis methods
- Use basic bioinformatic programs with open access
- Critically evaluate the options when choosing a method of investigation
- Set up a working protocol

Prerequisites

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Course unit content

The course aims to provide the knowledge of the main techniques used in the diagnosis of genetic diseases, in order to understand their potential in applications in the field of medical genetics.

Full programme


Molecular analysis of nucleic acids. Extraction of nucleic acids. Electrophoresis of nucleic acids. Nucleic acid hybridization. Blotting. PCR: the principle of the method and its applications. Real Time PCR and its applications. High Resolution Melting (HRM). Methods to search known mutations in the DNA (RFLP, ASO, ARMS, OLA, etc.). Methods for the detection of unknown mutations in the DNA. Traditional sequencing, pyrosequencing and next-generation sequencing (NGS).
Molecular cytogenetics: FISH, array-CGH, SNP-array.

Bibliography


G. Neri, M. Genuardi. Genetica umana e medica. Ed. Masson.
Material provided by the teacher.

Teaching methods


Lectures supplemented by attendance in the laboratory, to train the student to the application of the learned concepts.

Assessment methods and criteria


The examination includes the assessment of the achievement of the objectives of the course through a oral examination with questions aimed to verify the knowledge and understanding of the content of the course.

Other information

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