Enrollment year
2021/2022
Academic discipline
BIO/12 (CLINICAL BIOCHEMISTRY AND BIOLOGY)
Department
DEPARTMENT OF MOLECULAR MEDICINE
Course
BIOMEDICAL LABORATORY TECHNIQUES
Curriculum
PERCORSO COMUNE
Period
2nd semester (04/03/2024 - 19/06/2024)
Lesson hours
32 lesson hours
Activity type
WRITTEN TEST
Learning outcomes
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 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. Applications of molecular diagnositcs: examples on selected clinical settings
Teaching methods
- Frontal lectures
- Laboratory case discussion
Individual in-depth analysis through literature and suggested sources
Reccomended or required readings
Tietz textbook of Clinical Chemistry and molecular diagnotics
Ciaccio Lippi - Biochimica Clinica e Medicina di Laboratorio
Assessment methods
Written test
Further 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
Sustainable development goals - Agenda 2030