HUMAN GENETICS
Prerequisites
None.
Discipline: GENERAL BIOLOGY
Objectives of the course
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.
Discipline: HUMAN GENETICS
Objectives of the course
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.
GENERAL BIOLOGY Programme of the course
1. The appearance of life on earth and the evolution of living organism; prokaryotes and eukaryotes; asexuate and sexuate reproduction; the cell as structural and functional unit of living organisms.
2. Methods in formal general genetics: the Mendelian inheritance; fenotypic interaction among genes and modifications of Mendelian ratios; the quantitative characters.
3. Methods in general cytogenetics: the chromosomes; the behaviour of chromosomes in mitosis and in meiosis; the cell cycle; the gametogenesis; the sex determination.
4. Chromosomes and hereditary traits: the chromosomal theory of inheritance; the sex-linked inheritance; the complete and incomplete linkage; the recombination and the crossing-over.
5. Methods in molecular genetics: structure and function of DNA; DNA duplication; DNA repair; the gene expression; transcription and translation; the genetic code; The regulation of gene expression in prokaryotes and eukaryotes; the chromatin; the constitutive and facultative heterochromatin.
6. Methods in genetics of bacteria and viruses: bacteriophages cycles; DNA technologies (restriction enzymes, cloning vectors, cDNA, identification of specific sequences); the structure of the gene.
7. 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.
HUMAN GENETICS Programme of the course
8. The appearance of life on earth and the evolution of living organism; prokaryotes and eukaryotes; asexuate and sexuate reproduction; the cell as structural and functional unit of living organisms.
9. Methods in formal general genetics: the Mendelian inheritance; fenotypic interaction among genes and modifications of Mendelian ratios; the quantitative characters.
10. Methods in general cytogenetics: the chromosomes; the behaviour of chromosomes in mitosis and in meiosis; the cell cycle; the gametogenesis; the sex determination.
11. Chromosomes and hereditary traits: the chromosomal theory of inheritance; the sex-linked inheritance; the complete and incomplete linkage; the recombination and the crossing-over.
12. Methods in molecular genetics: structure and function of DNA; DNA duplication; DNA repair; the gene expression; transcription and translation; the genetic code; The regulation of gene expression in prokaryotes and eukaryotes; the chromatin; the constitutive and facultative heterochromatin.
13. Methods in genetics of bacteria and viruses: bacteriophages cycles; DNA technologies (restriction enzymes, cloning vectors, cDNA, identification of specific sequences); the structure of the gene.
14. 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.
Reference books
No specific text. 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
Further study material: slides are available on the University e-learning site.