| Code |
13426
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| Year |
3
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| Semester |
S2
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| ECTS Credits |
6
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| Workload |
PL(30H)/T(30H)
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| Scientific area |
Biomedical Sciences
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Entry requirements |
Not applicable
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Mode of delivery |
Tutorial
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Work placements |
Not applicable.
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Learning outcomes |
In this Course Unit it is intended that the student attain general knowledge about contemporary genetics, from Mendelian genetics to recombinant DNA, with emphasis on the structure and function of the genome, chromosomes and genes, mutation and biological variation, recombination, and selection. At the end of this Course Unit, students should be able to: -Describe the organization of genomes and genes, prokaryotic and eukaryotic, as well as the different forms of regulation of gene expression; -Distinguish the different types of gene mutation and describe the repair mechanisms; - Explain how a karyotype analysis can be used to identify chromosomal mutations; - Describe the fundamental concepts of Mendelian Genetics; -Report the processes involved in the transmission of hereditary characteristics and know how to discuss them; -Fundament and execute some of the laboratory techniques of DNA isolation and manipulation.
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Syllabus |
THEORETICAL: Organization of prokaryotic and eukaryotic genomes (nuclear and mitochondrial). Regulation of gene expression in prokaryotes: the operon; inducible and repressible operons; positive and negative regulation; the lac operon and the trp operon. Riboswitches and antisense RNA. The different levels of expression regulation in eukaryotes: chromatin decondensation; transcription; mRNA processing; translation; post-translational modification. Chromosomal mutations. Gene mutations and DNA repair. Molecular genetics and recombinant DNA technology: restriction enzymes, vectors, and host cells. Basic principles of Mendelian heredity. Sex determination and X-linking. Extensions and modifications of basic principles (Neo-Mendelian). Genetic linkage and chromosome mapping: eukaryotes and prokaryotes. PRACTICAL: DNA extraction from mouthwash and its quantification by spectrophotometry; polymerase chain reaction (PCR); electrophoresis
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Main Bibliography |
Genetics - A Conceptual Approach. Benjamin A. Pierce. 7th Edition, 2020. W. H. Freeman Publisher. ISBN ISBN:9781319297145
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Teaching Methodologies and Assessment Criteria |
The assessment is conducted through 3 mandatory assessments: two evaluate the theoretical component (T1 and T2, each with a weight of 40% in the final grade) and one evaluates the practical laboratory component (PL, with a weight of 20% in the final grade). Students who participate in all 3 assessments and have met the attendance criteria are admitted to the exam. They are exempt from the exam if they have a grade >= 9.5 points in the weighted average of the 3 assessments.
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Language |
Portuguese. Tutorial support is available in English.
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