GENETICA UMANA

Degree course: 
Corso di Long single cycle degree (6 years) in MEDICINE AND SURGERY
Academic year when starting the degree: 
2019/2020
Year: 
1
Academic year in which the course will be held: 
2019/2020
Course type: 
Basic compulsory subjects
Credits: 
5
Period: 
Second semester
Standard lectures hours: 
60
Detail of lecture’s hours: 
Lesson (50 hours), Seminar (10 hours)
Assessment: 
Voto Finale

Gene mutation, genetic models and techniques of study. Chromosomal mutation, mechanism at the basis of structural and numerical aberrations Errors during meiosis for balanced abberration.
Formal genetic in human: study of at the the phenotype biochemestry and molecular level. Dominant , recessive and X-linked traids. Polymorphism in human DNA. Cytogentics.
Normal cariotype. Abberration in the autosomal and sex chromosomes. Disease due to errors in DNA repair, inprinting, uniparental disomy.Molecolar genetic in the mendelian disease and genetic consulation.
Genetic consulattion in cytogenetics, prevention of the genetic disease in the genetic consultation.
Sexual differentation and grade of intersexuality .
Genetics and Tumors.

Gene mutation, genetic models and techniques of study. Chromosomal mutation, mechanism at the basis of structural and numerical aberrations Errors during meiosis for balanced abberration.
Formal genetic in human: study of at the the phenotype biochemestry and molecular level. Dominant , recessive and X-linked traids. Polymorphism in human DNA. Cytogentics.
Normal cariotype. Abberration in the autosomal and sex chromosomes. Disease due to errors in DNA repair, inprinting, uniparental disomy.Molecolar genetic in the mendelian disease and genetic consulation.
Genetic consulattion in cytogenetics, prevention of the genetic disease in the genetic consultation.
Sexual differentation and grade of intersexuality .
Genetics and Tumors.

- 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

The course is based on taught classes asking the students for tan important partecipatin.
The topics exposed by the teacher during the first class class will be summarized by the students the next class in order to invite the students to an active participation to the course.
Practical experience are available to the students during the laboratoties of cytogenetics and molecular genetics.

To arrange an appointment with the teachers ask at: giovanni.porta@uninsubria.it

Professors

Parent course