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Code: 101980 ECTS Credits: 6
Degree Type Year Semester
2500890 Genetics OB 2 2


Susana Pastor Benito

Teaching groups languages

You can check it through this link. To consult the language you will need to enter the CODE of the subject. Please note that this information is provisional until 30 November 2023.


There is not any official prerequisite more than those needed for the access to the degree.

Objectives and Contextualisation

The Mutagenesis course does refer to the nature of the mutational changes, to the different factors and mechanisms involved in the induction of genetic damage and to the relation between mutations and different diseases, in special cancer and those syndromes associated with chromosomal instability and defects in DNA repair. The course also serves to introduce the assays more employed in the genotoxic/mutagenic evaluation and that they are currently used in the standard testing batteries. Likewise, it establishes the links between the fundamentals of the systems of mutagenic evaluation, their role in the mutagenicity analyses and its application to the studies of biomonitoring of human populations. It is a course that has both basic and applied aspects, integrating different levels, from the molecular to the individual and populational levels. The subject of Mutagenesis is in the second course and develops basically the following aspects: molecular basis of mutagenesis, physical and chemical mutagens, detection of mutations, systems of mutagenic evaluation, mutations and diseases, human biomonitoring. 


  • Act with ethical responsibility and respect for fundamental rights and duties, diversity and democratic values. 
  • Be able to analyse and synthesise.
  • Define mutation and its types, and determine the levels of genic, chromosomal and genomic damage in the hereditary material of any species, both spontaneous and induced, and evaluate the consequences.
  • Develop self-directed learning.
  • Make changes to methods and processes in the area of knowledge in order to provide innovative responses to society's needs and demands. 
  • Reason critically.
  • Take account of social, economic and environmental impacts when operating within one's own area of knowledge. 
  • Take sex- or gender-based inequalities into consideration when operating within one's own area of knowledge.
  • Use and manage bibliographic information or computer or Internet resources in the field of study, in one's own languages and in English.

Learning Outcomes

  1. Act with ethical responsibility and respect for fundamental rights and duties, diversity and democratic values. 
  2. Be able to analyse and synthesise.
  3. Describe the basics of the main methods of mutagenic evaluation.
  4. Describe the different types of genic and chromosomal mutation and their somatic and germinal consequences.
  5. Describe the molecular bases of mutations and repair mechanisms in prokaryotes and eukaryotes.
  6. Develop self-directed learning.
  7. Make changes to methods and processes in the area of knowledge in order to provide innovative responses to society's needs and demands. 
  8. Reason critically.
  9. Recognise the application of the main methods of mutagenic evaluation in biomonitoring studies.
  10. Take account of social, economic and environmental impacts when operating within one's own area of knowledge. 
  11. Take sex- or gender-based inequalities into consideration when operating within one's own area of knowledge.
  12. Use and manage bibliographic information or computer or Internet resources in the field of study, in one's own languages and in English.



Brief introduction to the developmental history of Mutagenesis. Basic and applied aspects. His paper in both Genetics and Genetic Toxicology disciplines. Importance of Environmental Mutagenesis.


The mutations. Types of mutations. Gene mutations. Phenotipic effects of mutations. Types of mutants. Reversion and supression. Spontaneous mutations. Endogenous and exogenous causes of  mutations. Molecular basses of  gene mutations. Mechanisms that contribute to the spontaneous mutation.


Main types of chromosome aberrations. Cell cycle and expression of structural chromosome changes. Paper of single and double strand breaks in the genesis of chromosomal alterations. The fragile points. Aneuploidy and chromosome loss. Causes and consequences of chromosome non-disjunction.


Repair and mutagenesis. Mechanisms of repair. Reversion of the induced damage. Base excision repair. Nucleotide excision repair. Mismatch repair. Tolerance to the genetic damage. Regulation of mutagenesis in eukaryotic cells.


Random mutagenesis. Directed mutagenesis. Applications.


Nature of  physical and chemical mutagens. Chemical mutagens that require metabolic activation. Chemical mutagens that are activated by the light. Direct mutagens. Indirect mutagens. Intercalating agents. Base analogs. Ionizing radiation. Ultraviolet light. Fibers.


The nature of cancer. Clues about the origin of cancer. The genetic basis of cancer. Oncogens. Tumour supressor genes. Growth distortion in cancer cells. Carcinogenesis as a multicausal, multigenic and multistage process. Some important genesin the clinical of cancer. Cancer Stem Cells.


Genetic variability in the biotransformation of xenobiotics. Polymorphismsof enzymatic loci involved in the biotransformation. Cytochromes P450. Glutathione S-transferases. N-acetyl transferases. Other enzymes involved in the metabolism of drugs and foreign chemicals. Pharmacogenetic polymorphisms and diseases susceptibility. Factors that influence the metabolism of xenobiotics.


Mechanisms of inherited susceptibility to mutation. Hereditary diseases characterized by defects in DNA repair: xeroderma pigmentosum and Fanconi's anaemia. Hereditary diseases characterized by cell deficient responses to the genetic damage: ataxia telangiectasia and Bloom's syndrome. Other diseases with possible defects in the processing of DNA damage.


Assays in bacteria. Assays in cultured mammalian cells. In vivo asays with Drosophila melanogaster. Common in vivo mammalian assays. Detection of adducts in DNA and proteins. Use of fluorecence in situ hybridization techniques.  Use of transgenic animals for measuring genetic events.


General philosophy. Matricial (batteries) and hierarchical (tiers) systems. Approaches to the development of assays batteries. Basic recommendations. Interpretation of the data of the assays batteries.  Importance of the controls.


Environmental monitoring. Biological monitoring. Human monitoring. Biomarkers. Biomarkers of exposure to genotoxins. Biomarkersof genotoxins-DNA interactions. Biomarkers of irreversible genetic damage. Molecular epidemiology. 


Basic considerations and definition of genetic risk. Strategies for the qualitative risk characterization. Organisms and relevance to humans. Categorization of risk. Quantitative characterization. Dose- response extrapolation.




The development of the formative activities of the course is based in: theory lectures, solving problems and case analysis sessions, and seminars. These activities will be done following his specific methodology and will be complement with tutorials.

 Lectures will address in a formal and systematic way the main ideas and applications of the different topics. Students should expand and confront autonomously as a personal work. The content of different units will be explained by the professor using visual material. Students must bring this material in class as a guide.The lectures are conceived basically as a unidirectional method of knowledge transmission but the professor will motivate the participation of students.

 The solving problems and analysis of cases are devoted to apply the knowledge acquired from the lectures and personal study to the resolution of representative problems and practical cases, previously stated. The students culd work in small groups, developing the capacities of interaction, analysis of data and synthesis of the results.

 Seminars: : Students will choose a topic related to mutagenesis and will make a presentation to the rest of the students.

 Classes to orient the autonomous learning: They will serve principally to advise for the search of consistent scientific information and for bibliographic queries, as well as to establish effective learning strategies.

 Tutorials: His objective is multiple: resolution of doubts, bibliographic orientation and  use of the virtual tools. These sessions will not serve to advance matter, they will be of support.









Annotation: Within the schedule set by the centre or degree programme, 15 minutes of one class will be reserved for students to evaluate their lecturers and their courses or modules through questionnaires.


Title Hours ECTS Learning Outcomes
Type: Directed      
Lectures 26 1.04 11, 4, 3, 5, 8, 2
Preparation of works 10 0.4 4, 3, 5, 6, 8, 9, 2, 12
Self-directed learning 3 0.12 6, 8, 9, 2, 12
Seminars 5 0.2 1, 11, 10, 8, 9, 2, 12
Type: Supervised      
Group tutorials 4 0.16 6, 8, 9, 2, 12
Type: Autonomous      
Problem classes and seminars 10 0.4 1, 11, 10, 4, 3, 5, 6, 7, 8, 9, 2, 12
Problem resolution 20 0.8 8, 9, 2, 12
Study 65 2.6 1, 11, 10, 4, 3, 5, 6, 8, 9, 2, 12


The competences  of this subject will be evaluated as follows:


1.- Examinations

 Examinations include the evaluation of the contents of both the theoretical lessons and the problems.

 Two midterm written exams will be done. To pass the exam the students must get at least a mark of 5. It is possible to compensate from 5.

 To improve the mark, or to surpass a mark inferior to 5, the students can do the reassessment exam.  To be eligible for the retake process, the student should have been previously evaluated in a set of activities equaling at least the two thirds of the final score of the course. Thus, the student will be graded as "No Avaluable" if the weighthing of all conducted evaluation activities is less than 67% of the final score.

 The qualification obtained in the exams will represent  the 75% of the final mark.


2.- Individual work

 The oral presentation, the writing, the structure, the quality, the clarity, and the consistence of the individual work will be considered. The qualification of this module will represent the 25% of the total mark. 


3.- Participation

Active participation in seminars, problem classes and other class activities will be evaluated. Depending on the activity and quality of the participation, the student may score a 0.5 in the final grade for the course.


Final considerations:

 For a positive evaluation of the course, the students must obtain at least 5 in the final mark.

 The students that can not attend an examination for justified causes can address to the Degree Coordinator in order to find an alternative date.


  Single assessment

Students who so request will be entitled to a single assessment. The single assessment will consist of a single summary test in which the contentsof the entire program of the subject (theory and exercices) will be assessed. The grade obtained in this synthesis test will be account for 75% of the final grade of the subject. The students must obtain at least 5 in the final mark.

The evaluation of the seminars will follow the same process as the continuous evaluation. The grade obtained will acount for 25% of the final grade of the subject.

The single assessment test will coincide with the same date fixed in the calendar for the last continuous assessment test and the same recovery system will be applied as for the continuous assessment.





Assessment Activities

Title Weighting Hours ECTS Learning Outcomes
Active participation +0.5 0 0 1, 11, 10, 6, 8, 2
Exams 75% 7 0.28 4, 3, 5, 8, 9, 2
Seminar 25% 0 0 6, 7, 8, 9, 2, 12



Álvarez, E., Cunha, R.(Editors) DNA Adducts. Formation, Detection and Mutagenesis. Nova Biomedical Press (2010).


Brusick, D.(Editor) Methods for Genetic Risk Assessment. Lewis Publishers (1994).


Dhawan, A., Bajpayee, M. (Editors) Genotoxicity Assessment. Methods and Protocols. Humana Press (2013).


Friedberg, E.C., Walker, G.C., Siede, W., Wood, R.D., Schultz, R.A., Ellenberger, T. DNA Repair and Mutagenesis. 2nd edition. ASM Press (2005).


Kocsis, A., Molnar, H. (Editors) Genotoxicity: Evaluation, Testing and Prediction. Nova Biomedical Press (2009).


Li, A.P., Heflich, R.H.  (Editors) Genetic Toxicology. CRC Press (1991).


Migliore, L. (Editor) Mutagenesi Ambientale. Zanichelli (2004).


Paz y Miño, C., Creus, A., Cabré, O., Leone, P.E. Genética Toxicológica y Carcinogénesis. PUCE/FUNDACYT (2002).


Phillips, D.H., Venitt, S. (Editors) Environmental Mutagenesis. BIOS Scientific Publishers (1995).


Sierra, L.M., Gaivao, I. (Editors) Genotoxicity and DNA Repair. A Practical Approach. Humana Press (2014).


Tardiff, R.G., Lohman, P.H.M., Wogan, G.N. (Editors) Methods to Assess DNA Damage and Repair. John Wiley & Sons (1994).


Wilson, S.L., Suk, W.A. (Editors) Biomarkers of Environmentally Associated Disease. Technologies, Concepts and Perspectives. Lewis Publishers (2002).


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