2021/2022

2021/2022

DM270

MED/03 (MEDICAL GENETICS)

DEPARTMENT OF BRAIN AND BEHAVIORAL SCIENCES

NEUROPHYSIOPATHOLOGY TECHNIQUES

PERCORSO COMUNE

1°

(04/10/2021 - 21/01/2022)

1

8 lesson hours

Italian

WRITTEN TEST

MINELLI ANTONELLA - 1 ECTS

Good knowledge of Biology and Genetics, particularly to the physical and chemical aspects of the genome, its expression and about the variations it may present.

To know the role of Medical Genetics in its application to clinical practice, to know Mendel's laws and their meaning, to know the mode of transmission of Mendelian characters / pathologies in humans, to know how to design the crosses starting on the genotypes and to predict the risk of recurrence, knowing how to recognize the mode of transmission of pathologies in families through family trees.

 Introduction to Medical Genetics
 Terminology of Genetics
 Character transmission: Mendel's 1st and 2nd law (main aspects)
 Genetic diseases and their classification
 Mendelian inheritance in humans: family trees as a method for studying the transmission of characters, and factors conditionning their passage through the generations
 Inheritance autosomal recessive, autosomal dominant, recessive associated with the X chromosome, dominant associated with the X chromosome: characteristics observable in family trees, assignment of genotypes in affected and unaffected persons, calculation of the recurrence risk.

Lectures

Clementi M. Elementi di Genetica Medica, EdiSES Editore

Written exam with multiple choice quiz; problems relating to the interpretation of family trees