MEDICAL GENETICS DIAGNOSTIC TECHNIQUES
cod. 15656

Academic year 2020/21
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 laws of genetic transmission
- Genetic models of transmission of the main genetic disorders in humans
- Examples of mendelian diseases
- Chromosomal disorders
- Genetic basis of congenital deafness

Prerequisites

- - -

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

- - -