Study Programmes

Genetics3

Genética

Curse code:9554203

Sílvia Maria Cunha de Almeida

Learning outcomes of the curricular unit:

Medical Genetics is nowadays one of the most advanced areas of biology and medicine.
The spectacular advances in molecular biology such as recombinant DNA technology, the use of molecular probes in the detection of polymorphisms and more recently enzymatic in vitro "amplification", started a revolution under Genetics and consequently in the field of medicine itself.
No doubt that all aspects of medical practice will benefit and will be profoundly altered as a result of these new technologies.
New models emerged in medical practice, where Clinical Genetics plays a very important role as a result of the knowledge of the genetic basis of many common diseases.
The power of modern molecular analysis comes from the fact that the clinical experience of the mysteries begins to be explained in precise molecular terms.
The objective of the discipline of genetics will be to prepare students to understand the importance and significance of normal and pathological variation, introducing them to the technologies used in this area.

Syllabus:
  1. Introduction to "Clinical Genetics": genes, characters and genealogy.
  2. Development / evolution.
  3. DNA structure and replication.
  4. Action of genes - maintenance of genetic information.
  5. Gene mutation.
  6. Chromosome structure and function.
  7. Chromosomopathy: aneuploidy and other chromosomal abnormalities.
  8. The Genetics of Cancer.
  9. New applications in clinical genetics.
Suggested Bibliography:
  • Strachan T & Read AP (2011) Human Molecular Genetics, 4th ed., Garland Science/Taylor & Francis Group. ISBN 0815341490, 9780815341499
  • Gelehrter T & Collins F (1992) Principes De Genetique Moleculaire Et Medicale Gelehrter, 2nd ed., Pradel. ISBN 13: 978-2907516273
  • Snustad DP, Simmons MJ (2011) Principles of Genetics, 6th ed., John Wiley & Sons. ISBN-13: 978-0470903599
 

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