First cycle
degree courses
Second cycle
degree courses
Single cycle
degree courses
School of Medicine
Course unit
MEP7079218, A.A. 2017/18

Information concerning the students who enrolled in A.Y. 2017/18

Information on the course unit
Degree course Second cycle degree in
ME1934, Degree course structure A.Y. 2012/13, A.Y. 2017/18
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Degree course track MEDICAL BIOTECHNOLOGIES [002PD]
Number of ECTS credits allocated 6.0
Type of assessment Mark
Course unit English denomination GENETICS
Website of the academic structure
Department of reference Department of Molecular Medicine
E-Learning website
Mandatory attendance No
Language of instruction English
Single Course unit The Course unit CANNOT be attended under the option Single Course unit attendance
Optional Course unit The Course unit is available ONLY for students enrolled in MEDICAL BIOTECHNOLOGIES

Teacher in charge ANTONELLA RUSSO BIO/18

ECTS: details
Type Scientific-Disciplinary Sector Credits allocated
Core courses BIO/18 Genetics 6.0

Course unit organization
Period Second semester
Year 1st Year
Teaching method frontal

Type of hours Credits Teaching
Hours of
Individual study
Lecture 6.0 48 102.0 No turn

Start of activities 26/02/2018
End of activities 01/06/2018

Examination board
Board From To Members of the board
1 Commisisone 2017/18 01/10/2017 30/09/2018 RUSSO ANTONELLA (Presidente)
LOREGIAN ARIANNA (Membro Effettivo)

Prerequisites: General principles of Genetics, Molecular Biology, Cell Biology.
Target skills and knowledge: Several issues of Human Molecular Genetics will be discusse during the course, with focus on genome/karyotyope organization, regulation and stability of the human genome in health and disease.
Examination methods: Oral exam (conversation.
Assessment criteria: Comprehension of the key concepts and ability to critically associate different aspects together.
Course unit contents: Chromosome organization: chromosome banding, chromosome territories. Methodologies of molecular investigation from cytogenetics to genomics. The concept of synteny. Chromosome breakpoints with respect to genome organization and stability. Copy number variation and disease. Centromeres, Neocentromeres and chromosome instability.
Mechanisms and meaning of genomic imprinting; pathological consequences.
Gene dosage imbalance and dosage compensation mechanisms: the gene dosage control in aneuploidy, polyploidy, copy number variation syndromes.
A global critical discussion on the topics of the course and main perspectives in biomedicine.
Planned learning activities and teaching methods: Lectures and critical discussion.
Additional notes about suggested reading: Review articles and book chapters will be indicated by the teacher.
Textbooks (and optional supplementary readings)
  • Strachan, Tom; Read, Andrew P., Human molecular geneticsTom Strachan and Andrew Read. New York: Garland Science, 2011. consigliato Cerca nel catalogo
  • Vogel, Friedrich; Speicher, Michael R.; Antonarakis, Stylianos E.; Motulsky, Arno G., Vogel and Motulsky╩╝s human geneticsproblems and approachesSpeicher, Antonarakis, Motulsky [editors]. Berlin: Springer, 2010. consigliato Cerca nel catalogo