2019/2020

2019/2020

DM270

MED/03 (GENETICA MEDICA)

DIPARTIMENTO DI MEDICINA MOLECOLARE

MEDICINA E CHIRURGIA (IN LINGUA INGLESE)

PERCORSO COMUNE

1°

Primo Semestre (01/10/2019 - 17/01/2020)

2

16 ore di attività frontale

English

SCRITTO

VALENTE ENZA MARIA - 2 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, with practical examples from real cases.

Basic genetic nomenclature; concepts 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; classifications and applications of genetic testing; genetic counseling.

Frontal lessons

Any human genetics book (recent edition) will do. Slides will be provided.

Written examination with multiple choice questions

Office hours: by appointment. Please email: enzamaria.valente@unipv.it