Methods in cytogenetics and human genetics

A.Y. 2019/2020
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
Course syllabus
Mendelian inherited diseases
Chromosomes structure and abnormalities
Cytogenetic techniques and diagnosis of genetic diseases
Human genome structure and organization
Human genome sequencing
Multifactorial traits and complex diseases
Muscle diseases
Triplet repeats expansion disorders
Epigenetics and gene expression regulation
X chromosome inactivation
Genetic imprinting and diseases
Embryonic and pluripotent stem cells and the study of genetic diseases
Genetics of cancer
miRNA involvement in human diseases
PCR/real time PCR and applications in human genetics
Prerequisites for admission
Genetics and Molecular Biology
Teaching methods
Slides used in the class with be available in the Ariel portal
WEB Page
Teaching Resources
Reference Material
-Genetica Umana molecolare T. Strachan, A. Read. Zanichelli
-M.R. Cummings EREDITA' Principi e problematiche della genetica umana. EdiSES
-Il Gene X Lewin et al.
Article and slides used in the classroom with be available in the Ariel portal.
Assessment methods and Criteria
Very good knowledge and background in molecular biology and genetics are required.
Evaluation assessment will be performed through a written exam, in which students will be asked to respond to three questions on different topics of the course.
BIO/18 - GENETICS - University credits: 6
Lessons: 48 hours