Subject: Genetics

Scientific Area:

Biology

Workload:

60 Hours

Number of ECTS:

6 ECTS

Language:

Portuguese

Overall objectives:

1 - Understand and describe the mechanisms that underpin both Mendelian and non­Mendelian inheritance across generations
2 - Understand the basic structure and function of DNA and chromosomes.
3 - The basics of molecular processes regulating DNA replication, transcription and translation as well as the basics of the genetic code.
4 - Describe how gene expression is regulated at different levels and in different organisms (pro and eukaryotes, viruses).
5 - Identify the types of mutations affecting nucleic acids and describe molecular mechanisms behind DNA damage and repair systems used by different organisms.
6 - Describe and identify the numerical and structural rearrangements of chromosomes across several species.
7 - Understand what transposable elements are and how they affect the genome
8 - The basic of cancer genetics

Syllabus:

1 - Mendelian Genetics, Extensions and sex­linkage.
2 - Chemical and molecular structure of DNA: supercoiling and DNA secondary structures. .
3 - DNA replication ­ replicative models enzymes involved in replication (prokaryotic and eukaryotic).
4 - Gene recombination.
5 - Mapping in bacteria.
6 - Regulation of gene expression in bacteria. Organization of inducible genes. Catabolitic repression. Metabolic pathway of tryptophan. Attenuation model.
7 - Gene control of protein production. The transcription complex. Enhancers and silencers. Splicing: self­splicing and spliceosome. Metabolic chain phenylalanine­tyrosine and methionine.
8 - Cytogenetics.
9 - Mutations in DNA. Mutation rates. Spontaneous and induced mutations. Repair
10 - Somatic mutations versus mutations in the germline. Examples of mutations associated with various diseases
11 - Bacterial mobile elements. Transposition mechanisms. Examples of transposons in maize, yeast , Drosophila and humans.

Literature/Sources:

Weaver, Robert, Hedrick, Phylip , 1997 , «Genetics». 3rd Ed. ed .Boston: , McGraw­Hill Higher Education
Lewis, Ricki , 2008 , «Human genetics : concepts and applications». 8th ed, , McGraw­ Hil
Turnpenny, Peter D. , 2008 , «Emery's elements of medical genetics». 13th ed , : Churchill Livingstone Elsevier
Gardner, R. J. McKinlay , 2004 , «Chromosome abnormalities and genetic counseling». 3rd ed. . , Oxford University Press
Hartwell L , 2004 , «Genetics : from genes to genomes». 2nd ed. . , McGraw­Hill
Hartl, Daniel L. , 2000 , «A primer of population genetics». 3rd ed. , Massachusetts : Sinauer Associates,
Klug, William S , 2000 , «Concepts of genetics». 6th ed. . , Prentice Hall International,

Assesssment methods and criteria:

Classification Type: Quantitativa (0-20)

Evaluation Methodology:
Lectures using PowerPoints and / or animations taken from the web. Occasionally is asked groups of students to investigate a topic and pass a presentation which is then worked with the teacher. The final product is presented to colleagues as if it were a normal class. Students are encouraged to make use of animations taken from the web (mostly from youtube) to better grasp the concepts of the lectures. Pratical courses exclusively devoted to train the brain using exercises from Mendelian genetics. Seminars are mandatory and consist of an oral presentation (2­3 students) with PowerPoint. Topics are suggested throughout the semester. Continuous assessment: T and TP components are distributed over 2 times of independent assessment and subject to reappreciation at the end of semester. The evaluation of the seminar is done during the presentation of the work and is eliminatory. Each T and TP is worth 20% of the final grade. S = 20%. Minimum grade in each fraction of 9.5.