HUMAN GENETICS
2017/2018
2017/2018
DM270
MED/03 (GENETICA MEDICA)
DIPARTIMENTO DI MEDICINA MOLECOLARE
MEDICINA E CHIRURGIA (IN LINGUA INGLESE)
PERCORSO COMUNE
PRIMO SEMESTRE (02/10/2017 - 19/01/2018)
1
8 ore di attività frontale
English
ORALE
VALENTE ENZA MARIA - 1 CFU
None
The student will learn the basis of human and medical genetics; in particular the student will gain knowledge on mendelian, chromosomal, mitochondrial and multifactorial disorders; concepts of pharmacogenetics, genetic counselling and genetic testing.
concept of mutation, variant and polymorphism; pedigree drawing; inheritance of monogenic traits, Mendel laws; autosomal dominant, autosomal recessive, x-linked transmission; concepts of penetrance, expression, anticipation, fitness, mosaicism, phenocopy, imprinting, de novo mutations; dynamic mutations; genetic and allelic heterogeneity; oligogenic inheritance; mitochondrial dna and inheritance; karyotype and chromosomal classification; numerical and structural chromosomal aberrations; multifactorial inheritance, quantitative traits, threshold effect; multifactorial diseases, case-control studies; concepts of pharmacogenetics and pharmacogenomics; classifications and applications of genetic testing; genetic counseling.
Frontal lessons
Written examination with multiple choice questions
Office hours: by appointment. Please email: enzamaria.valente@unipv.it