GENETICA UMANA

Degree course: 
Corso di Long single cycle degree (6 years) in MEDICINE AND SURGERY
Academic year when starting the degree: 
2016/2017
Year: 
1
Academic year in which the course will be held: 
2016/2017
Course type: 
Basic compulsory subjects
Credits: 
5
Period: 
Second semester
Standard lectures hours: 
50
Detail of lecture’s hours: 
Lesson (50 hours)
Requirements: 

None

Assessment: 
Voto Finale

Obiettivi dell’insegnamento e risultati di apprendimento attesi
The Course is intended to give the students the methodological basis for the study of biological phenomena in man, and, in particular, of genetic variability and of the mechanisms of transmission and expression of genetic information at cell and molecular level. The goal is to furnish the student with tools for the understanding of genetic variability and of genetic phenomena relevant in man, mainly in relation to pathology, besides giving some basic information on bacteria and viruses genetics, and to give a contribution to the education of a medical doctor able to use correctly the methods of genetic analysis in his medical practice.

contenuti e programma del corso
1. The gene mutation: patterns and methods of study; the chromosome mutation: methods of study and mechanisms of origin of numerical and structural anomalies; the meiotic segregation of balanced structural anomalies.
2. Formal genetics in man: methods of study at phenotype, gene product and DNA levels; dominant and recessive traits, X-linked traits; genetic polymorphisms; the Mendelian diseases.
3. Man cytogenetics: the human normal karyotype; methods of study; the numerical and structural anomalies of autosomes and of sex chromosomes; diseases due to defective DNA repair mechanisms; genomic imprinting and diseases due to uniparental disomy; the epidemiology of chromosomal diseases.
4. The molecular genetics of Mendelian diseases; the genetic couselling in Mendelian diseases.
5. Diseases due to chromosome anomalies; the genetic counselling in chromosomal disorders.
6. Notes on practical issues: the genetic counselling practice, the prevention of genetic diseases, the sexual differentiation and the intersexuality conditions, genetics and neoplasms.

testi e materiale didattico
None. The following list of possible reference books is given the students during the Course:
- Tiepolo, Laudani: Le basi biologiche dell’ereditarietà. 3a ed., Ed. La Goliardica Pavese s.r.l., 1995
- Watson, Baker, Bell, Levine, Losick: Biologia molecolare del gene. 7a ed., Ed. Zanichelli, 2015
- De Robertis, De Robertis: Biologia della cellula e molecolare. 5a ed., Ed. Zanichelli, 1990
- Barigozzi, Ghidoni: Cromosomi e meccanismi ereditari.
Ed. UTET, 1976 (fuori commercio)
- Vogel, Motulski: Human Genetics. 4a ed., Ed. Springer, 2010
- Curtoni, Dallapiccola, De Marchi, Mattiuz, Momigliano Richiardi, Piazza: Manuale di Genetica. 2a ed., Ed. UTET, 1997
- Thompson, Thompson: Genetica in medicina. Ed. Idelson-Gnocchi, 2005
- Gelehrter, Collins, Ginsburg: Principles of medical genetics. 2a ed. Ed. Williams & Wilkins, 1998
- Gelehrter, Collins, Ginsburg: Genetica Medica. 2a ed. Ed. Masson, 1999 (fuori commercio)
- Dallapiccola, Novelli: Genetica Medica essenziale. 3° ed. Ed. Il Minotauro, 2012
- Strachan, Read: Human molecular genetics. 4a ed. Ed. Garland Science, 2011
- Strachan, Read: Genetica umana molecolare. (sulla 4a ed. originale) Ed. Zanichelli, 2012
- Neri, Genuardi: Genetica umana e medica. 3° ed. Ed. Elsevier-Masson, 2014
- Strachan, Goodship, Chinnery: Genetica e Genomica nelle Scienze Mediche. Ed. Zanichelli, 2016
- Harper: Practical genetic counselling. 7a ed. Ed. Taylor & Francis Group, 2010

Professors

MASERATI EMANUELA

Parent course