Methods in cytogenetics and human genetics

A.Y. 2017/2018
6
Max ECTS
48
Overall hours
SSD
BIO/18
Language
Italian
Learning objectives
Il corso si propone di fornire le basi formative e metodologiche che consentano di approfondire la variabilità genetica normale e patologica nell'uomo.
Ulteriore finalità del corso è quella di approfondire le caratteristiche della struttura del genoma umano e dei meccanismi molecolari alla base di processi che regolano l'espressione genica.
Expected learning outcomes
Undefined
Course syllabus and organization

Single session

Responsible
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


Reference Material
-Genetica Umana molecolare T. Strachan, A. Read. Zanichelli
-J.J.Pasternak GENETICA MOLECOLARE UMANA 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.


Prerequisites and examination procedures
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.


Recommended Prerequisites
Genetics and Molecular Biology

Language of instruction
Italian


Program information
Slides used in the class with be available in the Ariel portal


WEB Page
http://ariel.unimi.it/
BIO/18 - GENETICS - University credits: 6
Lessons: 48 hours