IPLUSO 19555

Genetics

• ApresentaçãoPresentation

  This course unit introduces the basic concepts of human genetics and the role of genetics in the development of different pathologies. In this sense, it will be important for the student to grasp the main laws, the genetic variability of populations and the way genes are transmitted. The importance of genetics in diagnosis and clinical treatment will also be addressed. In the practical component the student will acquire the attitudes and gestures necessary to perform laboratory tasks through some elementary techniques of classical cytogenetics and in vitro diagnostic kits.
• ProgramaProgramme

   Human Genetics Introduction. Genetics variance, polymorphism and mutation. Chromosomal abnormalities. Mendelian disorders I, II. Mulfactorial transmission of traits.  Hemoglobinopathies.  The molecular and biochemical basis of genetic diseases. Population genetic variation. Ecogenetics and Pharmacogenetics. Cancer genetics.  Genetic diseases treatment. Genetics prevention. Prenatal prevention. DNA extraction from peripheral blood. DNA spectrophotometric analysis: quantification and determination of the purity level. Genotype I determination (part A): PCR amplification, Genotype I determination (part B):  PCR product restriction and visualization on agarose of PCR/RFLP product. Lymphocyte cultures from peripheral blood. Giemsa staining of metaphase spreads. Metaphase plaques
• ObjectivosObjectives

  - Understanding the function of chromosomes as a repository of all genes encoding human proteins has revolutionized the diagnosis and treatment of disease. - Learn the basics of human genetics, the role of genes and the environment in normal development and pathology. - Understand the importance of the classical and molecular cytogenetics laboratory in preventing, diagnosing and monitoring the evolution of genetic disease. - Acquire attitudes and gestures necessary to perform laboratory tasks. - Acquire ability to analyze, interpret knowledge and facts with application in problem solving.
• BibliografiaBibliography

  Nussbaum, R. L.; McInnes, Roderick, R. & Willard. H, F. (2015). Thompson & Thompson. Genetics in Medicine. (8th ed. Rev). Elsevier. ISBN: 9781437706963 Lewi, R. (2020). Human Genetics: Concepts and Application. (13th ed.). McGraw-Hill Education. ISBN-13:9781260570465 Griffiths, A.J. et al. (2011). An introduction to genetic analysis. (10th ed.). New York: Freman and Company. ISBN-13: 978-1429229432  
• MetodologiaMethodology

  In practical classes, the student has prior access to the experimental protocols to be carried out in each class session, which allows for prior reading and preparation. These protocols are accompanied by a set of questions, in order to ensure individual preparation and, subsequently, the discussion of procedures and results.
• LínguaLanguage

  Português
• TipoType

  Semestral
• ECTS

  3
• NaturezaNature

  Mandatory
• EstágioInternship

  Não