Methods in cytogenetics and human genetics

A.Y. 2021/2022
Overall hours
Learning objectives
The course aims to provide the educational and methodological bases that allow to understand the normal and pathological genetic variability in humans. Another aim of the course is to provide basic knowledge of the structure of the human genome and the molecular mechanisms underlying the processes that regulate gene expression.
Expected learning outcomes
At the end of the course, the student will have acquired:
- the most recent methods of cytogenetics and analysis of the structure of the human genome;
- the theoretical and conceptual bases of human genetics and of genetic diseases
- the main molecular mechanisms related to the control of gene expression
Course syllabus and organization

Single session

Lesson period
Second semester
If in presence lessons are not allowed, they will be online on the Teams platform "Metodologie di Citogenetica".
Course syllabus
- Southern / Northern hybridization methods. Fish.
- Microarrays.
-PCR and its applications
- Methods based on amplification
- Forensic genetics
- Methods based on NGS
- Structure of the human genome
- Genetic Engineering
- Genome Editing
- Function of the human genome
- Epigenetics Mosaicisms
- Imprinting
- Cellular reprogramming
- Monogenic diseases: BLS, EEC / AEC
- Principles of cancer genetics
Prerequisites for admission
Basic knowledge of statistics, principles of biophysics, knowledge of cell biology.
Knowledge of basic principles of genetics, molecular biology and biochemistry.
Teaching methods
Lessons will be generally onsite in presence in the form of oral presentation with slides.
A few lessons will be provided synchronous recorded online, on the Teams platform "Metodologie di Citogenetica", with a small introduction before and a live comments session at the end. Such lessons will be available to the students as recorded material on the same platform.
Teaching Resources
"Molecular Human Genetics" T. Strachan, A. Read. Zanichelli
- "HUMAN MOLECULAR GENETICS" J.J.Pasternak Zanichelli
- "INHERITANCE Principles and problems of human genetics." M.R. Cummings EdiSES
- "The Gene" Lewin et al.
Some in-depth articles on topics covered in class and the Pdf files of the slides will be made available on Teams.
Assessment methods and Criteria
If allowed, written examination in presence will include open questions. If in presence examinations are not allowed, examinations will be oral online on the Teams platform "Metodologie di Citogenetica".
BIO/18 - GENETICS - University credits: 6
Lessons: 48 hours