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Basic Biomedical Sciences - mod. MEDICAL GENETICS
FRANCA SACCUCCI

Sede Medicina e Chirurgia
A.A. 2013-2014
Crediti 2
Ore 20
Periodo 1^ semestre
Lingua ITA
Codice U-gov MT10-11-11 MT317

Programma

 

The patterns of inheritance: autosomal dominant, autosomal recessive, X linked recessive and X linked dominant. Notion of gene, allele, genotype, phenotype. Pedigree analysis. Complications and exceptions in pedigree. Dental disease examples in each category.  Polygenic theory of quantitative traits and discontinuous characters. Multifactorial inheritance with examples of normal and abnormal human traits. Organization of human genome. Control of human gene expression. Instability of human genome: mutations and polymorphisms. The nature of mutations and how they contribute to human variability and to disease. Gene  mutations: loss and gain of function.  Chromosomal aberrations: structural and numerical. Mitochondrial disease and their patterns of inheritance

Modalità di svolgimento dell'esame

Oral exam on the course subjects.

Testi consigliati

 

Titolo: Genetica medica essenziale

Autore: B. Dallapiccola G. Novelli

Casa Editrice:  Il Minotauro

 

Titolo: Genetica umana e medica

Autore: G. Neri e M. Genuardi

Casa Editrice:  Elsevier Masson

 

Corsi di laurea

• Igiene Dentale