Medicine and surgery | University of Parma

Professor: Antonio PERCESEPE
Academic discipline: Genetica medica (MED/03)
Field: Discipline generali per la formazione del medico
Type of training activity: Basic

30 hours
of face-to-face activities

3 credits

hub: PIACENZA

course unit
in ENGLISH

lectures timetable

exam calls

Integrated course unit module: Molecular Biology, Genetics & Genomics

Learning objectives

To give the basis of Human Genetics for the understanding of the pathogenesis of the diseases with a genetic basis

Prerequisites

None

Course unit content

Human Genetics

Full programme

Classification of the genetic bases of the human diseases: mendelian and complex diseases
Classification and effect of the DNA mutations
Human chromosomes and thier numerical and structural abnormalities
The mendelian inheritance: the autosomal dominant, autosomal recessive and X-linked inheritance
Consanguineity and the calculation of recurrence risksin the recessive disesase
Elements of population genetics: Hardy-Weinberg equilibrium and its applications for the calculation of the allelic and genotypic frequencies
Examples of bayesian calculations applied to the recurrence of disease with incomplete penetrance and to the X-linked diseases.
Genetic maps and linkage analysis: general principles
Multifactorial diseases and linkage disequilibrium
Atypical inheritance: digenic, mithocondrial, imprinting
Techniques of genetic and cytogenetic analysis

Bibliography

Emery's Elements of Medical Genetics and Genomics, 16th Edition, 2021 by Peter D Turnpenny, Sian Ellard, and Ruth Cleaver

Teaching methods

Lectures

Assessment methods and criteria

Multiple choice questionnaries and open questions

Other information

2030 agenda goals for sustainable development

4, 5

MEDICAL GENETICS cod. 1009787