MEDICAL GENETICS
None
Obiettivi dell’insegnamento e risultati di apprendimento attesi
The course is intended to give the students the bases of the molecular mechanisms of cell activities, and for the study of genetic disorders in man, Mendelian and not Mendelian. The importance of the analysis of karyotype and genome will be focused in all constitutional and acquired pathology.
Contenuti e programma del corso
General and human formal genetics.
The mutations: gene and chromosome mutations in man.
Mendelian inheritance in human pathology.
X-linked inheritance in human pathology.
Indications for the karyotype study.
Mendel’s laws
Exceptions to Mendel’s laws
Human chromosome, structure and morphology
Gene mutations
Pedigrees in medical genetics
Chromosome mutations
Human diseases due to chromosome anomalies
Indications to the karyotype study
Syndrome due to chromosome imbalances
Mary Lyon’s hypothesis.
The teaching consists in frontal lessons.
Le basi biologiche dell’ereditarietà, terza edizione; Tiepolo L., Laudani U.; La Goliardica Pavese
Genetica Medica Essenziale; Bruno Dallapiccola, Giuseppe Novelli; Il Minotauro
Slides