Genetics

Basic knowledge of Molecular Biology.

– Use of multimedia for interactive and expository lectures.
– Performing group work for the presentation and discussion of posters and related scientific articles;
– Individual or group resolution of proposed problems.
– Viewing and discussion of films related to the subject.
– Indication of a list of recommended bibliography for the discipline at the beginning of the academic year and
– availability of attendance at the Institution at a time set every semester, or to be agreed with the student.

The student must have knowledge about terms related to the various segments of genetics and also to possess the genetic basis for understanding the biological processes of the human organism and the transfer of traits among the individuals.
The student must acquire skills to synthesize and comunicate information using appropriate methodologys; develop a critical attitude towards the work carried out, as well as, the ability to expand their knowledge in the field of genetics in Dietetics and Nutrition.

THEORETICAL-PRACTICAL PROGRAM

A – Molecular Genetics:                                                                        (3 hours)
1 – History and “stories” of molecular biology.
2 – Structure and chemistry of nucleic acids – DNA and RNA.
3 – Information transfer – from DNA to protein.

B – Genetics – Science of heredity and biological variability.
1 – Classical Genetics                                                                           (2 hours)
History of Genetics and Mendelian theory of heredity.
Deviations from Mendel’s principles (Epistasis, Linkage, …).

2- Types of Heredity:                                                                           (3 hours)
Autosomal dominant and recessive heredity.
Heterochromosomal (X and Y) dominant and recessive heredity.
Mitochondrial inheritance.

3 – Cytogenetics:                                                                                  (3 hours)
Cell cycle. Mitosis and meiosis.
Morphology and classification of chromosomes.
Human karyotype and techniques for chromosome study.
Karyotype notation and cytogenetic code or idiogram.

4 – From genetic diversity to pathology                                          (4 hours)
Mechanisms of mutation and classification of mutations.
Point mutations: deletions, insertions, duplications.
Transitions and transversions.
Significance and consequences of mutations: in extra-genic regions (anonymous), in coding regions (silent, missense, nonsense, frameshift, splicing) and in regulatory regions.
Examples of genetic diseases.
Syndromic and non-syndromic pathology

5 – Numerical and structural chromosomal abnormalities                                 (4 hours)
Alteration in the number of chromosomes: euploidy, aneuploidy and polyploidy.
Changes in chromosome structure: deletion, duplication, inversion, isochromosomes, translocation, ring chromosome.
Mechanisms of X chromosome inactivation (Lyon Hypothesis).
Dosage compensation.
Most frequent chromosomal defects.

6 – Areas of intervention                                                                     (3 hours)
Genetic Diagnosis
Predictive genetic tests (preimplantation diagnosis, prenatal diagnosis pre-symptomatic diagnosis).
Susceptibility diagnosis.
Genetic screening (heterozygote detection) and early diagnosis.
Genetic counseling and heredograms.
Congenital errors of metabolism.
Gene therapy.

7- Population Genetics                                                                        (4 hours)
Frequencies in genetics: genotypic, phenotypic and allelic.
Hardy-Weinberg Theorem

C – Nutrigenomics
8 – Nutrigenetics, Nutrigenomics and other “omics”                      (8 hours)
Genetic polymorphisms as models of study in nutrigenomics.
Hereditary metabolic diseases.

PRACTICAL PROGRAM
Methods of DNA (RNA) manipulation:                                             (3 hours)
– Extraction of nucleic acids;
– G+C content of DNA;
– Restriction reactions and restriction enzymes;
– Polymerase chain reaction (PCR);
– Sequencing of nucleic acids.

Resolution of exercises                                                                          (4 hours)
– Mendelism;
– of gene frequencies;
– of heredograms.
– Preparation of karyotypes.

Presentation and discussion of related articles and papers.           (15 hours)

The no. of classes/ hours missing are for presentation and evaluation

NAO

Primary bibliography:

1. Genes IX, 2007. Benjamin Lewin. Jones & Bartlett Publishers, New York. USA.

2. Alberts, B., 2009. Biologia Molecular da Célula. 5ª Ed. Editora Artes Médicas.

3. Strachan, T., Read, A. P., 2013. Genética Molecular Humana. 4ª Ed. Editora Artemed.

4. Regateiro F.J. “Manual de Genética Médica”. Imprensa da Universidade, Coimbra, 2003.

5. Lewis, R., “Human Genetics – concepts and applications” 10th Ed., Mc Graw-Hill. USA, 2012.

6. Vogel F. e Motulsky A.G. “Human Genetics Problems and Approaches”. 4rd edition. Springer Verlag, Berlim, 2010.

7. Griffiths, Anthony J. F. – Introdução à genética. 10ª ed. Guanabara/Koogan, 2013. ISBN 9788527714976.

8. Gomes, C.A. Genética e Audição. Audiologia em Revista, Porto. ISBN 1646-9070. 1:2 (Dezembro, 2008) 107-117.

9. Harper, P.S. Practical Genetic Counselling, 6ª Ed. London: Arnold 2004.

10. Biology of Microorganisms, 8th Ed., 1996. T. D. Brock; M. T. Mandigan; J. M. Martinko; J. Parker. Prentice Hall, Englewood Cliffs, New Jersey. USA.

Web sites:

1 – https://www.omim.org/

2 – http://www.insa.min-saude.pt/category/areas-de-atuacao/genetica-humana/programa-nacional-de-diagnostico-precoce/