Degree course: 
Corso di First cycle degree in Biomedical Laboratory techniques
Academic year when starting the degree: 
Academic year in which the course will be held: 
Second semester
Standard lectures hours: 


Final Examination: 
Voto Finale

Obiettivi dell’insegnamento e risultati di apprendimento attesi
BIOCHEMISTRY Docente Dr Viola Manuela
The goal of training is to give solid foundation of knowledge about metabolisms that are tested in the routine laboratory work and the knowledge bases that support the following and deepening learning in other areas.
MEDICAL GENETICS, Docente Emanuela Maserati
The course is intended to give the students the bases of the molecular mechanisms of cell activities, and for the study of genetic disorders in man, Mendelian and not Mendelian. The importance of the analysis of karyotype and genome will be focused in all constitutional and acquired pathology.

Contenuti e programma del corso

BIOCHEMISTRY Teacher dr Viola Manuela
Metabolism of glucose, triglycerides and proteins. Hemoglobin and myoglobin.Bioenergetics. Lipoproteins metabolism. Cholesterol metabolism. Nitrogen metabolism
The biomolecules: sugars, amino acids, lipids, cholesterol, ATP, ADP, NADH, FADH2. Glycogen and triglycerides. Protein: peptide bond, amino acid sequence, three-dimensional structure (eg, collagen); post-translational modifications, phosphorylation, glycosylation, proteolytic cleavage, links with coenzymes. Oxygen-binding proteins: myoglobin and hemoglobin. Enzymes: properties, kinetics, inhibitions, regulation, specificity, nomenclature, outline of enzyme cofactors. General metabolism: anabolism and catabolism, regulations; bioenergetics. ATP synthesis; respiratory chain NAD / FAD, reducing power. Glycolysis. Glycogen metabolism and role of insulin and glucagon. Metabolism of fatty acid and metabolic adaptations during fasting
Krebs cycle, Gluconeogenesis and their regulation
Nitrogen metabolism, transamination, transdesamination, uric acid and urea cycle. Heme catabolism. Lipoproteins, bile acids and cholesterol metabolism. Special functions of the liver, detoxification and metabolism of ethanol and methanol
ROS. Special functions of the liver: catabolism of exogenous molecules, detoxification of ethanol; Special lipids. metabolism of iron and copper. Thrombosis and Haemostasis
Tipologia delle attività didattiche
BIOCHEMISTRY Docente Manuela Viola
The teaching consists in frontal lessons and in a test exam with discussion of the questions.
GENETICA MEDICA, docente Emanuela Maserati
General and human formal genetics.
The mutations: gene and chromosome mutations in man.
Mendelian inheritance in human pathology.
X-linked inheritance in human pathology.
Indications for the karyotype study.
Mendel’s laws
Exceptions to Mendel’s laws
Human chromosome, structure and morphology
Gene mutations
Pedigrees in medical genetics
Chromosome mutations
Human diseases due to chromosome anomalies
Indications to the karyotype study
Syndrome due to chromosome imbalances
Mary Lyon’s hypothesis
The teaching consists in frontal lessons

Testi e materiale didattico

Introduzione alla biochimica. Lehninger, Nelson, Cox.
Terza edizione, 2003. Zanichelli
Le basi della Biochimica Champe PC, Harvey RA, Ferrier DR Zanichelli

Slide of the lessons on the Blackboard Learning System

Assessment methods

The student must take a written test consisting of multiple choice questions (4 answers with only one true) for 20/30 points maximum and an open question for 1/30 points. The test is to be solved in 60 minutes.
The questions will be related to the program to define the knowledge and understanding (30%), the ability to apply knowledge and understanding (20%), communication skills (30%) and the ability to learn (20%) the relationship to biochemistry. To pass the written examination, students must achieve a score of at least 18/30. In caso of scores of 16/30 and 17/30 the students can ask for an oral exams in order to integrate the written exam.
The final mark is unique for C.I. as a average of the different disciplines.
Genetica Medica, Docente Emanuela Maserati
Le basi biologiche dell’ereditarietà, terza edizione; Tiepolo L., Laudani U.; La Goliardica Pavese
Genetica Medica Essenziale; Bruno Dallapiccola, Giuseppe Novelli; Il Minotauro
Slides provided by the teacher.
Oral examination for teaching of Medical Genetic. The student is evaluated by knowledge and understanding (30%), applying knowledge and understanding(30%), judgement (10%), communication skills (20%) learning ability (10%); three questions are posed.

Metodi didattici
GENETICA MEDICA, Docente Emanuela Maserati
Frontal lessons