Molecular Diagnosis

Recommended Prerequisites

All areas of life sciences (examples: Pharmaceutical Sciences, Medicine, Biochemistry or Biology).

Teaching Methods

Lectures: students actively engaged in the construction of knowledge, analysing diverse information in the context of Molecular Diagnosis. Links between a professional context and exploited scientific concepts will thus be established.

Autonomous learning: students will be encouraged to, autonomously get actively involved in the construction and development of their knowledge, searching and analysing information and solving problems, proposed (or not) by the teacher.

Problem-solving class: Presentation of papers selected within the themes of the lectures.

Learning Outcomes

Course whose main aim is to minister knowledge of the main methods of immunological and molecular diagnostics as well as the respective grounds for its use and application examples in research and clinical practice.

This course will allow students to gain skills for learning, integration and application of knowledge in the area of molecular diagnostics applied to human health and will contribute to enable students at the end of their training to:

• Perform basic and applied research in the biomedical field

• Perform the selection, use and evaluation of new methods of molecular diagnosis

Participate in the monitoring of clinical trials of new drugs and / or therapeutic strategies resulting from advanced technologies.

The implementation of the objectives described will enable students to develop the following skills: organization and planning; manage information; problem solving; critical thinking; autonomous learning; oral and written communication; concern for quality.

Work Placement(s)

No

Syllabus

1. Immunological diagnosis

Elisa Methods

Production and characterization of monoclonal and polyclonal antibodies

Production and selection of hybridomas

2. DNA diagnosis methods

General protocol

DNA Hibridization probes

Genomic and CDNA libraries

3. Diagnosis of genetic mutations

Southern and Northern hibridization

DNA sequencing

Simple chain conformational polimorphisms

Detection of deletions and amplifications (PCR)

4. Detection of specific mutations

Concept of molecular polimorphism

Polimorphism of the dimension of the restriction fragments

Procedure PCR/OLA

Genotyping with PCR primers fluorescently labelled

5. Detection of mutations in different locations in a single gene

6. DNA Typing for application in forensic medicine.

Head Lecturer(s)

Luís Fernando Morgado Pereira de Almeida

Assessment Methods

Assessment
Clipping presentation: 20.0%
Exam: 40.0%
Presentation: 40.0%

Bibliography

Strachan, T and Read, A, Human Molecular Genetics 3, Garland Science, Taylor and Francis, London, 2003.

Klug, WS and Cummings MR, Concepts of Genetics 6th Ed. Prentice Hall, Inc., New Jersey, 20

Glick BR and Pasternak JJ, Molecular Biotechnology, Principles and Applications of Recombinant DNA (3rd edition), ASM Press, Washington, 2003.

Walsh, G, Biopharmaceuticals: Biochemistry and Biotechnology, John Wiley and Sons, New York, 2002.

Lima, N e Mota, M, Biotecnologia: Fundamentos e Aplicações, Lidel, Lisboa, 2003.

Videira, A, Engenharia genética. Princípios e Aplicações, Lidel, Lisboa, 2001.