Genetics

Recommended Prerequisites

NA

Teaching Methods

Lectures, Theoretical/Practical and Laboratorial practical during the semester. PowerPoint presentations in lectures and internet sites and videos consultation. Solving Problems and exercises in the field of Genetics and statistical methods application to Genetics. Scientific papers discussion. Report on a group's work to be presented orally and written. Tutorial support for the report and group's work and also for solving exercises.

Learning Outcomes

This curricular unit has the purpose of providing the student with both theoretical and practical knowledge in the field of genetics.

Specifics skills set:

1. Knowledge and understanding :

Recognize and be able to apply concepts and principles of genetics.

2.Understanding and application of knowledge:

Gather, analyse, syntesize and process information in a pertinent and significant way using the correct laboratorial and mathematical methods and techniques.

3.Decision making:

Conduct himself in the lab in a responsible way to prove the principles of gene transmission. Using the proper tools to calculate probabilities and statisticaly support obtained data.

4. Communication:

Process, interpret and communicate current information on the various fields of genetics

5. Self-learning skills:

Become self-sufficient in terms of meta-cognition and self-learning, in areas such as researching scientific literature on current genetic subjects.

Work Placement(s)

No

Syllabus

1. Introduction to genetics molecular genetics and genomics

2. Genetic transmission: Mendelism. Epistasis

3. Genes and chromosomes. Mitosis and meiosis. Chromosomes and hereditarity. Sex determination

4. Gene mapping. Factorial connection and chromosome mapping. Gene distances and recombination frequencies. Chromosomic maps

5.Types of DNA markers. Applications on the diagnosis of genetic diseases, in forensic medicine and criminal investigation

6. DNA structure and replication. Applications

7.Molecular organization of chromosomes. Bacterial and eukaryotic chromossome structure. Politenic and lampbrush chromosomes. Centromeres and telomeres

8. Chromosomic mutations. Karyotype and chromosome behavior. Polyploidy

9. Gene mutations. Types of mutation. Molecular basis of mutation. Molecular mechanisms of DNA mutation and repair

10. Extranuclear hereditarity. Extranuclear hereditarity patterns. Maternal effect

11. Population genetics. Gene and allele frequencies. Endogamy. Natural

Head Lecturer(s)

António Manuel Santos Carriço Portugal

Assessment Methods

Continuos Assessment
Oral presentation: 10.0%
Synthesis work: 10.0%
Exam: 80.0%

Final Assessment
Exam: 100.0%

Bibliography

Introduction to Genetic Analysis (2020). A. Griffiths, J. Doebley, C. Peichel. W.H. Freeman.

Genetics. Analyses of Genes and Genomes (2019). 9th edition. Daniel L. Hartl & Bruce Cochrane. Jones & Bartlett Learning.

Human Genetics (2025). S.D. Gangane. Elsevier India.

Thompson & Thompson Genetics and Genomics in Medicine. (2023). 7th edition. R. Cohn, S. Scherer, A. Hamosh. Elsevier.

Innovations and Implications in Molecular Diagnosis (2026). Q. Alan, M. Raffeq, M. Umair. CRC Press.

Genetics. Analysis of Genes and Genomes (2012). 8th edition. Daniel L. Hartl & Maryellen Ruvolo. Jones and Bartlett Learning.

Genetic Analysis. An integrated approach (2012). Mark F. Sanders & John L. Bowman. Pearson Education.

Introduction to Genetic Analysis (2008). 8/9th Edition. A. Griffiths, S. Wessler, R. Lewontin & S. B. Carrol. W. H. Freeman and Company.

Artigos científicos / Scientific Papers.