MEDICAL GENETICS DIAGNOSTIC TECHNIQUES
Learning outcomes of the course unit
The course will analyse either from a theoretical and a practical point of view the kinetics of Nucleic Acids hybridisation and its main applications in genetic diagnosis. At the end of the course the students should be able of correctly choose the right solution for a given diagnostic problem and to perform the choosen test in the right way.
Before the final examination, the Students must have successfully passed the examination of the course on Biology and Genetics. They must have attended the practical activities of the course and the relative tests as well.
Course contents summary
DNA denaturation and renaturation. Hybridisation kinetics of nucleic acids.
Denaturing High Performance Liquid Chromatography (DHPLC): theoretical principles, practice of the instrument, software for data processing.
DNA automatic analyser: theoretical principles, practice of the instrument, software for data processing.
The analytical potential of DNA analyser: DNA sequencing (sample processing and data analysis); DNA fragment analysis: Microsatellites, Oligonucleotide Ligation Assay (OLA) (sample processing and data analysis); Single Nuclotide Polymorphism typing (sample processing and data analysis).
Real Time PCR: theoretical principles and practice. In silico design of primers for Real Time PCR
The students will be provided with experimental protocols and with booklets containing the basic informations on the instruments used in the Laboratory practice