Degree course: 
Corso di First cycle degree in Physiotherapy
Academic year when starting the degree: 
Academic year in which the course will be held: 
Course type: 
Basic compulsory subjects
First Semester
Standard lectures hours: 
Detail of lecture’s hours: 
Lesson (14 hours)

No prerequisites

Voto Finale

The objective of the course is to present the hereditary laws of the transmission of the physiological and pathological characters and the diagnostic approach based on current technology the medical personnel have to apply to study the hereditary diseases.
Moreover, introduce pivotal notions of chemistry and biochemistry for the knowledge of: a) f biological systems; b) functions and localization of cellular and tissue metabolic pathways.

1 Mendel laws and exceptions.
2 Mytosis, Meiosis, , Chromosomal sex determination
3 Chromosomal theory of heredity, X-Linked transmission.
4 Linkage complete and incomplete
5 DNA: function structure e duplication, Cromatine ed Heterocromatine
6 RNA structure and maturation, Proteic sysntesis, Genetic code;
7 Human normal and pathologic karyotype
8 Chromosomal and genic mutations
9 Autosomal dominant and recessive transmission, X-linked transmission.
10 Mary Lyon;
11 Uniparental disomy , genomic inprinting
12 Molecular and molecular cytogenetic techniques.
13 Human chromosomal pathologies, S. di Down, Patau, Edwards, Sindrome of partial trisomie or monosomy of the autosomes;
14 Human chromosomal pathologies, of the X chromosomes S. Klinefelter, Polisomies of the X e Y chromosomes;
15 Chromosomal instability syndromes.
16 Genes and tumors

All didactic material presented in the classes as well the one necessary for the preparation of the examination (slides, pantries, exercises) is available in the e-learning platform.

Chemistry and Biochemistry: The professor is available for evaluating book already used by students. Moreover, the following text are suggested:
Chimica per le scienze biomediche Sackheim G.I. Lehman D.D. Ed. EdiSes
Chimica e biochimica per le lauree triennali dell’area biomedica Samaja M. Paroni P. Ed. Piccin
Chimica, biochimica e biologia applicata Massimo Stefani, Niccolò Taddei Zanichelli
Biochimica per le scienze motorie A. Di Giulio, A. Fiorilli, C. Stefanelli CEA