Human Genetics

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Objectives

1. Get acquainted with the main aspects of the structure, function and control of altered and normal genetic material

2. Synthesize the mechanisms at the basis of human genetic variability

3. Identify the main types of mutations and polymorphisms

4. Know the main methodologies used in the documentation and analysis of normal and pathological human genetic variation

5. Understanding patterns of heredity and variation, at the individual, family and population levels

6. Analyze how genes and environment are the basis of complex diseases

7. Understand the underlying theoretical foundations for risk calculations

8. To list the mechanisms responsible for genetic variation in human population

9. To understand the impact of knowledge of population genetic variability in terms of Public Health

10. To understand how the identification of genetic variation associated with disease facilitates the development of prevention, diagnosis and treatment

11. To identify ethical aspects in the HG

Program

Temas:

1. Organização geral do genoma humano: Projecto do Genoma Humano; Genoma nuclear e mitocondrial humano; Conteúdo de DNA e distribuição de genes nos diferentes cromossomas humanos; Organização dos genes codificadores de polipéptidos; Famílias e superfamílias de genes; Genes de RNA; Caracterização do DNA não codificante; Complexidade do Genoma Humano

2. Variação genética em indivíduos e populações: Projetos ligados à diversidade do genoma humano; Bases genéticas da diversidade; A mutação como fonte de variação; Tipos de mutação; Taxa de mutação; Nomenclatura das mutações; Efeitos e natureza das mutações

3. Padrões de Hereditariedade: Hereditariedade mendeliana autossómica; fatores complicadores da hereditariedade monogénica, hereditariedade mitocondrial, hereditariedade poligénica e multifatorial

4. Mecanismos de variação em populações humanas: Frequências alélicas, genotípicas e fenotípicas, Equilíbrio de Hardy-Weinberg, Fatores evolutivos.

Teaching Methodologies

The traditional approach to teaching, based mostly on lectures, is not appropriate to the learning needs of most courses in the field of biology, particularly those that fall in the field of genetics. Thus, it was considered to be in the best interest for the success of the students the combination of a limited number of lectures, to which are added theoretical and practical sessions and practices, based on interactive methods. Various aspects of the program make use of a set of cases. The cases provide the driving force for the introduction of new concepts and promote the interaction with the real world.

Bibliography

Hartl, D. & E. W. Jones. 2009. Genetics. Analysis of genes and genomes, 9ª ed., Jones and Bartlett Publishers, Boston.

Lewis, R., 2005. Human Genetics, 6ª ed., 439pp. MacGrawHill, Boston.

Passarge, E. 2001. Color Atlas of Genetics, 2ª ed., 457pp. Thieme, New York

Regateiro, F. J. 2003. Manual de Genética Médica, 496pp. Imprensa da Universidade de Coimbra, Coimbra. Recursos Internet

DNA Learning Centre - http://vector.cshl.org

Genes and Diseases - http://www.ncbi.nlm.nih.gov/disease/

Code

0105891

ECTS Credits

6

Classes

  • Práticas e Laboratórios - 15 hours
  • Teóricas - 15 hours
  • Teórico-Práticas - 30 hours

Evaluation Methodology

  • Practical component: 40%
  • Theoretical component: 60%