- Docente: Kerry Jane Rhoden
- Credits: 1
- SSD: MED/03
- Language: Italian
- Teaching Mode: Traditional lectures
- Campus: Bologna
- Corso: First cycle degree programme (L) in Dental Hygiene (cod. 8481)
Learning outcomes
At the end of the course the student will have an understanding of
the main concepts of the most common genetic diseases with
particular focus on those that affect the oral cavity and influence
oral hygene either directly or indirectly. The student will acquire
the competence to interpret family pedigrees, analyse the
segregation of a genetic disease, and have a basic understanding of
the exceptions to mendelian inheritance, complex genetic diseases,
and the methods to diagnose a genetic disease.
Course contents
- Genetic diseases: types of genetic diseases, elements of genetic counselling and molecular diagnostics, family pedigrees.
- Mendelian inheritance: modes of transmission, risk of recurrence, examples of diseases with autosomal dominant, autosomal recessive and X-linked inheritance; variations on mendelian inheritance (incomplete penetrance, variable expressivity, genetic heterogeneity, anticipation, germinal mosaicism)
- Mitochondrial inheritance: mitochondrial DNA, inheritance pattern, disease examples.
- Complex inheritance: genetic susceptibility to disease, gene-environment interactions, polymorphisms.
- Chromosomal abnormalities and cytogenetics
Readings/Bibliography
Fondamenti di Genetica Medica. Tobias, Connor & Ferguson-Smith. Edizione italiana a cura di Turchetti, Magini e Seri. Pearson, 2014.
Elementi di Genetica Medica. Maurizio Clementi. EdiSES, 2016.
Teaching methods
Power Point lectures.
Assessment methods
Oral exam on the programme content.
Teaching tools
Power Point lectures will be available on AMS Campus.
Office hours
See the website of Kerry Jane Rhoden