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Genetics

Code 12821
Year 2
Semester S2
ECTS Credits 6
Workload PL(15H)/T(30H)/TP(15H)
Scientific area Biochemistry
Entry requirements Not applicable
Mode of delivery Face to face.
Work placements does not apply
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.

Syllabus 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 unpacking; transcription; mRNA processing; translation; post-translation modification. Chromosomal mutations. Gene mutations and DNA repair. Molecular genetics and recombinant DNA technology: restriction enzymes, vectors and host cells. Basic principles of Mendelian inheritance. Sex determination and X-linkage. Extensions and modifications of basic principles (Neomendelian). Genetic linkage and chromosome mapping: eukaryotes and prokaryotes. LAB CLASSES: Extraction of DNA from blood and its quantification by spectrophotometry; polymerase chain reaction (PCR); digestion with restriction enzymes; electrophoresis.
Main Bibliography - Genetics - A Conceptual Approach. Benjamin A. Pierce. 7th Edition, 2020. W. H. Freeman Publisher. ISBN:9781319216801
Teaching Methodologies and Assessment Criteria Teaching is organized in the form of lectures, theoretical-practical and laboratory classes. For 11 weeks, in the theoretical and theoretical-practical, all the objectives are addressed through slide show and practical exercises solving. The laboratory classes, for 4 weeks, consist in the development of a project and the acquisition of practical skills in the laboratory of molecular genetics.
The assessment is carried out through 3 obligatory tests with multiple choice questions: two evaluate the theoretical component (T1 and T2, each with 40% of the final mark) and one evaluates the practical component (P, with 20% of the final mark). Students who participate in the 3 tests are admitted to the exam. They are exempted from the exam if they have a score >= 9.5values in the weighted average of the 3 tests and have fulfilled the minimum criteria for granting frequency.
Final Grade (0-20 values) = 0.4xT1+0.4xT2+0.2xP
Language Portuguese. Tutorial support is available in English.
Last updated on: 2024-06-10

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