BIOLOGY AND GENETICS
- Overview
- Assessment methods
- Learning objectives
- Contents
- Bibliography
- Teaching methods
- Contacts/Info
no prerequisits are request
modalità di verifica dell'apprendimento
The verification of learning is through an oral examination.
It concerns questions on the program of the entire Integrated Course, to establish knowledge and knowledge ability, competence to apply knowledge, good sense, communication and comprehension skills about the following points. Methodological basis for the study of biological phenomena in man, and in particular of genetic variability and mechanisms of transmission and expression of the genetic information at cell and molecular level; genetic variability and genetic phenomena relevant in human pathology; principles of genetics of prokaryotes and viruses; correct use of genetic methods in human disease; methodological basis for the study of normal and pathologic variability in man; tools for the study of genetic disorders and of genetic phenomena relevant in genetic disorders; correct use of genetic analysis and genetic counselling in medical practice.
Obiettivi dell’insegnamento e risultati di apprendimento attesi
The Course is intended to give the students the methodological basis for the study of normal and pathological genetic variability in man. The goal is to furnish the student with tools for the understanding of genetic disorders and of genetic phenomena relevant in pathology, besides giving a contribution to the education of a medical doctor able to use correctly the methods of genetic analysis and of genetic counselling in his medical practice.
Contenuto del corso
GENETICA UMANA, Docente emanuela Maserati
1. The gene mutation; the chromosome mutation: mechanisms of origin of numerical and structural anomalies; the meiotic segregation of balanced structural anomalies.
2. Formal genetics in man: dominant and recessive traits, X-linked traits; genetic polymorphisms; the Mendelian diseases.
3. Man cytogenetics: the human normal karyotype and the numerical and structural anomalies of chromosomes.
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: the genetic counselling practice, the prevention of genetic diseases, the sexual differentiation and the intersexuality conditions, genetics and neoplasms.
In details:
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.
Tipologia delle attività didattiche
frontal lessons, and laboratory training
Testi e materiale didattico
Genetica Unama, docente Emanuela Maserati
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, Hopkins, Roberts, Steitz, Weiner: Biologia molecolare del gene. 6a ed., Ed. Zanichelli, 2009
- 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, 2009
- 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: Manuale di Genetica Medica. 2a ed. Ed. Masson, 1999
- 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. 3a ed. Ed. UTET, 2007
- Neri, Genuardi: Genetica umana e medica. 2° ed. Ed. Elsevier-Masson, 2010
- Harper: Practical genetic counselling. 8a ed. Ed. Taylor & Francis Group, 2014
Slides available to the students
Modalità di verifica dell’apprendimento
Oral examination for teaching of Human Genetics. 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.
frontal lessons
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
Modules
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Credits: 2
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Credits: 5