Fondamenti di scienze biochimiche

Preliminary step
Fundamental concepts of General Chemistry: Atoms. Molecules. Periodic Table of elements. Chemical bond. Reactions: chemical kinetics, equilibria. pH of acids and bases, buffer solutions. Fundamental concepts of Organic Chemistry: main functional groups: structures and reactions. Classes of biological compounds: carbohydrates, lipids, aminoacids and proteins.

· Pre-analytical phase: main indications for requesting the laboratory tests; types of biological samples with particular attention to blood sample; specimen collection, storage and treatment; sources of pre-analytical variability, factors related to sample, intra- and inter-individual biological variability.
· Analytical phase: analytical variability; reliability of analytical methods, concepts of precision and trueness; types of errors; internal quality control and external quality assessment procedures.
· Post-analytical phase: reference intervals; decisional limits; critical difference; the medical report.
· Laboratory diagnosis and management of diabetes mellitus.
· Biochemical-clinical aspects concerning the measurement of hemoglobin concentration in blood, total blood count test; Evaluation of the iron metabolism alterations with particular attention to the laboratory tests useful for the diagnosis of iron deficiency anemia.
· Laboratory role in the evaluation of the disorders of lipids and lipoproteins

Characteristics of living organisms. Cell theory; prokaryotic cells, eukaryotic cells.
2. Biological macromolecules: lipids, sugars, nucleic acids, proteins.
3. DNA structure and replication: the Watson and Crick model; central dogma of biology; Meselson and Stahl experiment; molecular replication; DNA damage repair.
4. Transcription: various types of RNA; synthesis of RNA; maturation of messenger RNAs.
5. Translation and genetic code: genetic code and its properties; protein synthesis mechanism; post-synthetic fate of proteins.
6. The genome of eukaryotes: chromatin structure; the nucleosome; eukaryotic gene structure (introns-exons); control of gene expression.
7. Structure and function of biological membranes: fluid mosaic model; transport through the membrane; endocytosis and exocytosis.
8. Structure and organization of the eukaryotic cell: cell compartmentalization; cell organelles; ribosomes; cytoskeleton.

Cell cycle, DNA duplication and cell division
- Somatic cell division: the mitosis
- Germ cell division: the meiosis
- Spermatogenesis and ovogenesis
Human karyotype:
- Chromosome structure, function and classification
- Numerical chromosome abnormalities: non-disjunction at meiosis I and II
- Balanced and unbalanced structural chromosome abnormalities
Inheritance of genetic diseases:
- Monogenic diseases inheritance: dominant and recessive traits
- The study of family trees
- Complex diseases due to interactions between genes and environment (multifactorial diseases): mechanisms of inheritance
- Mono- and multifactorial ocular diseases: examples
Genetic tests (types, significance and techniques) and genetic counselling