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Code: 90016Curricular Year: 2nd Semester: 4th Compulsory
Credits: 5.0 ECTS
Lecturer(s): Prof Dr. Victor Diogo Alves
1. Contact hours:
Lectures 28 Praticals 28
Total 56
2. Objectives:
To acquire the basic principles and methodologies on molecular, cyto, mendelian and
population genetics. To know the mechanisms that determine the transmission of hereditary
traits. To know the molecular mechanisms of genetic diseases, including cancer. To provide a
working knowledge of genetics of disease, including the principles of population genetics and of
a broad range of inherited disorders in animals and the fundamental breed genetic diseases. To
develop competence in obtaining, recording, and interpreting patient history and pedigree
information. To provide an understanding of the methodologies used in cytogenetic and
molecular genetics. To know how to interpret the normal and aberrant cariotype of domestic
species. Use of OMIA, OMIM and other bibliographic resources to present a monographic work
related with a genetic disease, gene therapy, genetic resistance, etc
3. Programme:
Theoretical: Molecular basis of Normal and Pathological disorders. Molecular Genetics. Genetic
Polymorhism. Genome Analysis. Genetic linkage analysis. Genealogy analysis. Cytogenetic
basis of pathological disorders. Single gene disorders. Immunogenetics. Familial disorders not
due to a single gene. Population Genetics.
Practical: Segregation and Geneology analysis. Linkage Analysis. Evaluation of the carrier
status in animal breeding. Paternity exclusion testing and animal identification. Cytogenetics.
Manipulation of mammal genes. Population genetics. Seminars "Genetics and Disease".
Monography on a genetically determined clinical disorder. The students must perform a genetic
analysis of a clinical situation. Whenever possible, they must focus on the disorder’s molecular
mechanisms including its physiopathology. A Seminar is organized with oral presentations.
4. Bibliography:
NICHOLAS, F.W. (2003) - Introduction to Veterinary Genetics. Second Edition, Blackwell Publishing
NICHOLAS, F.W. (1989) - Veterinary Genetics. Oxford Univ. Press
KORF, BRUCE R. (2000) - Human Genetics - A Problem-Based Approach. 2nd Edition, Blackwell
Science, Malden, USA
GRIFFITHS, A.J.F. ET AL. (2005) - An Introduction to Genetic Analysis. 8th Edition, WH Freeman and
Summaries of selected students’ monographs (Seminar "Genetic and Disease")
Recent published papers
5. Assessment:
The final grade is the summing up of a written final exam (weighted at 85%, which includes the
theoretical and practical evaluation) with the Monograph (15%, evaluated in its written form and
during its oral presentation).