Genetics
- Details
- Category: Discipline
- Não
- 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.
- Semestral
Descrição
Data limite
Ponderação
1º Teste de avaliação Teórico
dd-mm-yyyy
25%
1º Teste de avaliação Prático
dd-mm-yyyy
25%
2º Teste de avaliação Teórico
dd-mm-yyyy
25%
2ºTeste de avaliação Prático
dd-mm-yyyy
25%
A classificação final (CF) da unidade curricular por avaliação contínua é obtida a partir das classificações obtidas na componente escrita (T) e na componente prática (PL). A componente Teórica consta de duas frequências escritas e é relativa aos conteúdos teóricos. A classificação mínima em cada frequência é de 8 valores. A componente prática consta de 2 momentos de avaliação práticos realizados durante as aulas laboratoriais, A classificação mínima de cada momento é de 8 valores. A classificação final é calculada a partir da seguinte fórmula: CF = 0,50 T + 0,50 PL. A classificação de todos os instrumentos de avaliação é expressa numa escala de 0 a 20 valores, sendo que o valor ponderado das classificações obtidas tem de ser igual ou superior a 9,5
- 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
- - 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.
- Mandatory
- 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.
- Português
- 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
- 4
- 0
- 3
- 2
- IPLUSO4003-19555
- Genetics
- 19555
- 4003
- Pharmacy
