MEDICAL GENETICS
Biochemistry: good knowledge of chemistry, preferably with the exam of "Structures and Functions of Biomolecules" passed.
Genetica Medica: no requirement
BIOCHEMISTRY: The goal of training is to give solid foundation of knowledge about metabolisms that are tested in the routine laboratory work or for radiologist the knowledge bases that support the following and deepening learning in other areas.
Genetica Medica, 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.
BIOCHEMISTRY: 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.
Genetica Medica
General and human formal genetics.
The mutations: gene and chromosome mutations in man.
Mendelian inheritance in human pathology.
X-linked inheritance in human pathology.
In detail:
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
1-Introduction in biochemistry. Lehninger, Nelson, Cox.
Terza edizione, 2003. Zanichelli.
2-Basic Biochemistry, Champe PC, Harvey RA, Ferrier DR
Zanichelli.
Genetica Medica: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.
Genetica Medica: Oral examination, 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.