Learning objectives
The student is introduced to a critical use of the more useful techniques in molecular geneticsdelle, starting from nucleic acid extraction, dosage and quality control to reach the expertise for using of these advanced technologies that would be necessary for a correct molecular diagnosis in the next future.
Course unit content
C paradox, esteem of how many genes we have, repetitive DNA , genome complexity.
DNA, RNA and proteins extraction from blod and tissues .
PCR: optimisation, RT_PCR
Electrophoresis of nucleic acids.
Screening of known mutations and polymorphisms : SNP's, restriction enzymes, Reverse Dot Blot, direct sequencing(Sanger method or NGS )
Screening of unknown mutations and polymorphisms: SSCP, DGGE, DHOLC, HRM, direct sequencing
Gene expression: RT_PCR, Microarrays
CNV analysis: Microarray, MLPA.
A working example: Cystic Fibrosis: clinicc, diagnosticc e genetics; molecular diagnosis.
Bibliography
Lecture notes and slides, lab protocols, papers from scientific journals
Teaching methods
Oral lectures and lab practice
