The course aims to provide students with the basic knowledge of the biological causes of genetic diseases, the ways in which they are transmitted and the laboratory methods generally used in medical genetics.
Course Prerequisites
Molecular biology and general genetics
Teaching Methods
Frontal instruction PowerPoint presentations Active learning: students will be asked to interact with the teacher during the lessons
Assessment Methods
Written exam consisting of 31 multiple-choice questions about the topics covered during the lessons. The maximum score is 31 points (30 cum laude). One point for correct answers, zero points for incorrect answers, zero points for unanswered questions. Test duration 60 minutes.
Texts
- PowerPoint provided by the teacher
- Textbooks: Genetica & Genomica - Tom Strachan Judit Goodship Patrick Chinnery - Zanichelli - 2015
Genetica molecolare umana - Tom Strachan Andrew Read - Zanichelli - 2021
Contents
• Inheritance patterns and genetic diseases • Non-Mendelian transmission of genetic diseases • Imprinting • Chromosomal abnormalities, point mutations, dynamic mutations • Genetic testing • Cytogenetic investigations (karyotype, FISH) • Array-CGH • Microdeletion and microduplication syndromes • Sanger sequencing • Next generation Sequencing
Course Language
Italian
More information
Office hours: by appointment. Please email roberto.ciccone@unipv.it
