MEDICAL GENETICS DIAGNOSTIC TECHNIQUES
Learning outcomes of the course unit
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
Course contents summary
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.
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.
G. Neri, M. Genuardi. Genetica umana e medica. Ed. Masson.
Material provided by the teacher.
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.