Molecular Cytogenetics

Recommended Prerequisites

Knowledge of biology, biochemistry in the pre graduate cycle of courses in the scope of biomedical sciences.

Teaching Methods

For the lectures it will be used powerpoint presentations, handouts/articles/or other material that teachers understand to be best suited with the theoretical contents concerning principles of Molecular Cytogenetics; the molecular bases of this technology and its variants techniques.

The test will be carried out in accordance with specific pedagogical objectives of the module and the number of questions will be representative of the importance of the issue to be evaluated.

Learning Outcomes

Theoretical knowledge of molecular cytogenetics through the themes presented, covering the history of the development of the first methodology, the molecular bases of this technology and the development of different techniques and its specificities. Understand the contribution of Molecular Cytogenetics in many areas of Human Genetics, as a diagnostic tool essential to Clinic Laboratory Genetics, including the areas of pre- and post-natal diagnosis, the reproductive medicine and oncology.

Work Placement(s)

No

Syllabus

History and overview of Molecular Cytogenetics
The advent of Molecular Cytogenetics
First clones and its applications
The FISH (Fluorescent in situ Hybridization) technique
Types of probes and clones, labelling and detection
Fundamental steps in a protocol
Unique sequence probes, α- β-satellite e satellite III, chromosome painting and telomeric probes
PRINS, fiber FISH, CGH, microdissection, SKY e M-FISH
FISH applications in diagnosis(pre natal, postnatal and cancer) and in research
Structural alterations and marker chromosomes
Microdeletion and microduplication syndromes
Subtelomeric rearrangements
Interfase FISH
Nomenclature ISCN 2016.

Head Lecturer(s)

Eunice Maria Ruas de Campos Matoso

Assessment Methods

Assessment
The evaluation consists of a multiple-choice questions and/or others types : 100.0%

Bibliography

Molecular Cytogenetics, Protocols and Applications, Editors: Fan, Yao-Shan (Ed.), 2003.
An International System for Human Cytogenomic Nomenclature (2016) ISBN: 978-3-318-05857-4
Artigos científicos originais e de revisão, no âmbito dos temas em discussão