The student: 1) Will know the main techniques of molecular biology for the extraction, amplification and analysis of nucleic acids 2) Will know the main applications of molecular diagnostics as well as the basic aspects of diagnostic reasoning
Course Prerequisites
Knowledge acquired as part of the Biochemistry, Applied Biology and Genetics Courses
Teaching Methods
- Frontal lectures - Laboratory case discussion Individual in-depth analysis through literature and suggested sources
Assessment Methods
Written test
Texts
Tietz textbook of Clinical Chemistry and molecular diagnotics
Ciaccio Lippi - Biochimica Clinica e Medicina di Laboratorio
Contents
1. Fundamentals of diagnostic reasoning 2. Nucleic acid extraction techniques 3. Nucleic acid quantification techniques 4. Nucleic acid quality control 5. Nucleic acid amplification techniques: basic principles, main types 6. Polymerase chain reaction: basic principles, assay design, technical considerations, main applications 7. PCR variants: Hot start PCR, Touch down PCR, Nested PCR, Multiplex PCR, Inverse PCR, Direct PCR, GC-rich PCR, Reverse transcriptase polymerase chain reaction (RT-PCR), Quantitative polymerase chain reaction (qPCR), real time qPCR, Reverse transcriptase qPCR (RT-qPCR), digital PCR 8. Nucleic acid electrophoresis 9. Restriction Fragment Length Polymorphism (RFLP) 10. PCR Restriction Fragment Length Polymorphism (PCR-RFLP) 11. High resolution melting analysis 12. Microarrays: SNV chips, gene expression microarrays, Arrays for comparative genomic hybridization (aCGH) 13. In situ hybridization: Fluorescence in situ hybridization (FISH), Spectral karyotyping (SKY) 14. Dideoxy-Termination Sequencing (Sanger Sequencing) 15. Massively parallel sequencing: basic principles 16. Bridge amplification and reversible dye terminator sequencing 17. Real-Time single molecule sequencing with fluorescent nucleotides 18. Target-enrichment strategies for massively parallel sequencing 19. Whole-exome sequencing (WES) 20. Clinical Applications of Mass Spectrometry 21. Clinical Applications of Flow Cytometry 22. Clinical Applications of Immunochemical Techniques 23. Applications of Molecular Diagnostics: Clinical Examples
Course Language
Italian
More information
With reference to the new regulations for the inclusion of students with particular situations, the teacher will provide the assistance and teaching material necessary for the students' training to prepare for the exam
