The aim of the course is to provide theoretical and conceptual bases of human and medical genetics as well as the related diagnostic-clinical aspects. The student must achieve the theoretical knowledge and laboratory practice that underlies chromosomal, monogenic and polygenic diseases; he must learn the methodologies of molecular genetics and cytogenetics aimed at the diagnosis of genetic diseases, and the instrumental technologies which allow the molecular analysis and the study of genes and genome.
Course Prerequisites
Adequate knowledge of general genetics and human genetics
Teaching Methods
Frontal 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. The validity period of the exam marks is indefinite.
Texts
PowerPoint presentations. Textbook: Human Molecular Genetics 5th Edition Tom Strachan, Andrew Read Garland Science
Contents
Mutations: classification criteria for mutations. Genomic mutations and chromosomal mutations: chromosome spread obtained from CVS, amniocytes and peripheral blood. Strategies to identify candidate genes and genes responsible for specific phenotypic characteristics. Mutations and pathogenesis: missense, nonsense, frameshift, splice-site mutation, loss-of-function, gain-of-function, interference, dominant-negative effect. Diagnostic approaches genomics, chromosomal microarray and NGS-based genomic analysis WGS, WES, gene panels. Mosaic mutations.
Course Language
English
More information
Office hours: by appointment. Please email roberto.ciccone@unipv.it
