Learning Results
To provide the students with knowledge to allow them to:
• Possess the genetic basis for the understanding of biological processes (molecular and cellular) of the human organism.
• Complement their training related to organization, transmission and gene expression.To provide the students with knowledge to allow them to:
• Possess the genetic basis for the understanding of biological processes (molecular and cellular) of the human organism.
• Complement their training related to organization, transmission and gene expression.
Program
1. Classical genetics
Mendelian’s theory of inheritance.
Deviations from the principles of Mendel (Epistasis, Linkage,…)
2. Types of inheritance:
Autosomal, connected to heterochromosome and mitochondrial.
3. Molecular genetics
The molecules: DNA and RNA.
Gene expression: from DNA to protein.
Regulation of gene expression.
4. Prokaryotic genome vs eukaryotic genome .
Global structure of prokaryotic and eukaryotic chromosomes.
5. Cytogenetic
Cell cycle: mitosis and meiosis.
Morphology and classification of the chromosomes.
Human Karyotype and study techniques.
Notation of Karyotype.
Dosage compensation.
6. From genetic diversity to pathology.
Mechanisms of mutation and its classification.
Numerical and structural chromosomal abnormalities.
Syndromic and non-syndromic pathology – examples.
7. Areas of intervention:
Genetic tracing (detection of heterozygous)
Early diagnosis.
Genetic counselling.
8. Population Genetics.
Hardy-Weinberg theorem.
Genotypic, phenotypic and allele frequency.
Curricular Unit Teachers
Sara Matias Carmo SilvaInternship(s)
NAO
Bibliography
1. Alberts, B., 1997. Biologia Molecular da Célula. 3ª Ed. Editora Artes Médicas.
2. Junqueira, L. C.; Carneiro, J., 1999. Histologia Básica. 9ª Ed. Editora Guanabara Koongan.
3. Strachan, T., Read, A. P., 2002. Genética Molecular Humana. 2ª Ed. Editora Artmed.
4. Regateiro F.J. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2003.
5. Lewis, R., “Human Genetics – concepts and applications” 6th Ed., Mc Graw-Hill. USA, 2005.
6. Vogel F.. e Motulsky A.G. “Human Genetics Problems and Approaches”. 3rd edition. Springer Verlag, Berlim, 1997.
7. Gomes, C.A. Genética e Audição. Audiologia em Revista, Porto. ISBN 1646-9070. 1:2 (Dezembro, 2008) 107-117.
8. Harper, P.S. Practical Genetic Counselling, 6ª Ed. London: Arnold 2004.
9. Griffiths, Anthony J. F. – Introdução à genética. 9ª ed. Guanabara/Koogan, 2008
10. Martini, A., Read, A. Stephens, D. Genetics and hearing impairment. London. Whurr Publishers Ltd. 1999.