MEDICAL GENETICS (B)
Learning outcomes of the course unit
Theaimof the course is to give the student the opportunity to learn the basicprinciple of genetics in order to understand the way of transmission of hereditary traits in individuals and in populations .
Course contents summary
Genetics: the study of mechanism of heredity of characters
Mendel’sexperimentalapproach:thediscovery of the first(segregation)andsecond(independentassortment)lawof heredity and the developmentofthe theory ofheredity. Thetest-cross.The concept of gene,allele,genotype andphenotype. Dominant,recessivealleles,incompletedominance andcodominant alleles.Multiplealleles.Pleiotropy.Epistasis. Polygenicinheritance. Sex linkedgenesandchromosomaldetermination of sex. Thechromosomal theoryofinheritance.Geneticsignificance of mitosis andmeiosis.
Dallapiccola B e Novelli G Genetica medica essenziale Il Minotauro ed. Roma 2006