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Cytogenetics

Code: 101964
Credits: 6
2026/2027
Degree programme Type Course
Genetics OB 2

Contact lecturer

Name :
Joan Blanco Rodriguez
Email :
joan.blanco@uab.cat

Teaching staff

Joan Blanco Rodriguez

Group languages

You can consult this information at the end of the document.

Prerequisites

To successfully follow this course, students are recommended to have the following prior knowledge:

  1. Understanding of the basic concepts covered in the first-year courses Cell Biology and Histology and Genetics.
  2. In particular, a solid grasp of Mendelian principles and the chromosomal theory of inheritance, the flow of genetic information, the cell cycle, and the mechanisms of cell division.
  3. An English level sufficient to understand scientific texts and other teaching resources in this language.

Objectives

Cytogenetics is a discipline that integrates knowledge from Cell Biology and Genetics and whose main object of study is the eukaryotic chromosome.

The development of this discipline has been made possible through the combination of conventional and modern techniques, as well as through the interaction between methodological development and hypothesis formulation. This approach has allowed for a deeper understanding of the chromosome as a functional structure.

In this context, the learning objectives of the course are:

  1. To understand the structure and behavior of chromosomes and their role in the conservation, transmission, and expression of genetic information.
  2. To analyze the mechanisms that generate chromosomal alterations and their genetic consequences in the offspring.

The theoretical knowledge of the course is complemented by practical laboratory training in the course Laboratori Integrat III.

Learning outcomes

  • CM33 (Solve biological problems by interpreting the mechanisms of hereditary transmission and genetic variation at the genetic and chromosomal level.) Solve biological problems by interpreting the mechanisms of hereditary transmission and genetic variation at the genetic and chromosomal level.
  • CM34 (Integrate knowledge of cytogenetics, linkage, and population genetics to understand the organisation of hereditary material.) Integrate knowledge of cytogenetics, linkage, and population genetics to understand the organisation of hereditary material.
  • CM35 (Evaluate the historical impact and socio-ethical implications of advances in genetics and alterations in individuals and populations.) Evaluate the historical impact and socio-ethical implications of advances in genetics and alterations in individuals and populations.
  • KM28 (Describe the structure, behaviour, and variations of eukaryotic chromosomes during cell division.) Describe the structure, behaviour, and variations of eukaryotic chromosomes during cell division.
  • SM31 (Analyse genetic data and experimental results at different organisational levels to determine the biological relevance of findings.) Analyse genetic data and experimental results at different organisational levels to determine the biological relevance of findings.
  • SM33 (Apply the principles of inheritance by integrating the gender perspective and the analysis of socio-historical and ethical implications.) Apply the principles of inheritance by integrating the gender perspective and the analysis of socio-historical and ethical implications.

Contents

PART I: ORGANIZATION OF HEREDITARY MATERIAL IN EUCARYOTES


Chapter 1. General Introduction to Cytogenetics


Chapter 2. The eukaryotic chromosome


PART II: CHROMOSOMES AND CELL DIVISION


Chapter 3. Mitotic cell division


Chapter 4. Meiotic cell division


PART III: SPECIALIZED CHROMOSOMES


Chapter 5. Adaptational forms of chromosomes


Chapter 6. Permanently specialized chromosomes


PART IV: TECHNIQUES FOR CHROMOSOME IDENTIFICATION AND CHROMOSOME ANALYSIS


Chapter 7. Basic principles of the cytogenetic laboratory techniques


Chapter 8. Chromosomal identification techniques


PART V: GENETIC AND EPIGENETIC ANOMALIES


Chapter 9. Alterations of the karyotype


Chapter 10. Structural chromosome anomalies


Chapter 11. Numerical chromosome anomalies


Chapter 12. Epigenetic anomalies

Learning activities and methodology

Title Hours ECTS Learning outcomes
Theory 32 1.28 CM34, CM35, KM28
Problem solving 7 0.28 CM33, CM34, CM35, SM31, SM33
Seminar 3 0.12 CM34, KM28, SM31, SM33
Study 68 2.72 CM33, CM34, CM35, KM28, SM31, SM33
Problem solving 20 0.8 CM33, CM34, CM35, KM28, SM31, SM33
Seminar: oral presentation 15 0.6 CM33, CM34, CM35, KM28, SM31, SM33

Lectures

The theoretical content of the course will be delivered by the lecturer in the form of lectures, supported by appropriate audiovisual materials and encouraging active student participation through reciprocal questioning. This teaching methodology will be implemented in 32 sessions of 50 minutes each.

Tables, figures and graphs used in class will be available in *pdf format on the course Moodle platform. Students will also have access to videos, animations, and links to web pages via Moodle.

Following the theoretical content of the course requires students to regularly consult the textbooks and review articles selected by the lecturer in order to consolidate and clarify the material covered in class (see Bibliography section). These articles will be available on Moodle in *pdf format.


Problem-solving Classes

This learning methodology has the following main objectives:

  1. To introduce students to the resolution of representative problems illustrating major advances in cytogenetics.
  2. To consolidate the concepts covered in lectures and analyse their implications.
  3. To introduce students to the scientific method, with particular emphasis on reasoning, critical judgement, and communication skills.

Sessions will be conducted in two groups. Students must check their assigned group and attend the corresponding sessions. Each group will have 7 sessions of 50 minutes throughout the course. Within each group, students will be organised into teams of four.

For each session, students will have access to a problem set (available on the course Moodle platform), which must be solved outside class within their group. In each session, 3 problems will be worked on, and an answer dossier will be prepared, printed, and brought to class. This dossier must be submitted to the teaching staff at the end of the session.

In class, the problems will be discussed and corrected with active student participation. The teaching staff will randomly select one member from each group to present the solution to one of the problems and explain it to the rest of the class. During these presentations, the teaching staff may ask additional questions to deepen understanding and reasoning. During presentations and follow-up questions, the use of mobile phones, computers, or any electronic devices with access to artificial intelligence tools will not be permitted, in order to ensure reflection and understanding of the content.

The assessment of the activity will be based on in-class interventions and contributions, with individual evaluation within the group work context. The dossier will not count towards the final grade. The final mark will correspond to the average of all individual interventions made by the members of the group, meaning that all members of the same group will receive the same grade.


Seminars

This activity consists of the preparation and oral presentation of a research article. For the seminars, students will be organised into the same groups as for the problem-solving classes. Each group will have 3 sessions of 50 minutes throughout the course.

The classroom methodology will be as follows:

  1. At the beginning of the course, the teaching staff will assign a scientific article to each working group. Based on this publication, each group must prepare an oral presentation.
  2. In the presentation, students must explain the content of the article using any resources they consider appropriate. The presentation will last a maximum of 10 minutes and all group members must participate in a balanced way.

At the end of each presentation, the teaching staff will ask two working groups to formulate one question each about the presented work.

Groups who wish to do so may deliver and defend their presentation in English.

The grade will be the same for all members of the group and will contribute to the final course mark.

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.

Assessment

Continuous assessment activities

Title Weight Hours ECTS Learning outcomes
Written exam I 35 2 0.08 CM33, CM34, CM35, KM28, SM31, SM33
Problem solving 20 0.5 0.02 CM33, CM34, CM35, SM31, SM33
Written exam II 35 2 0.08 CM33, CM34, CM35, KM28, SM31, SM33
Seminar oral presentation 10 0.5 0.02 CM34, CM35, KM28, SM31, SM33

Assessment System

To pass the course, students must obtain a final grade of at least 5.0 out of 10, calculated according to the weighting of the different assessment activities. In addition, students must achieve a minimum average grade of 4.0 out of 10 across the two written examinations.

Students who do not meet these requirements may take a resit examination. The format and characteristics of the resit examination will be equivalent to those of the two written examinations.

Students who have already passed the course may also sit the resit examination in order to improve the grade obtained in the theoretical component. In this case, the grade obtained in the resit examination will automatically replace the previous examination grade, regardless of whether it is higher or lower.

To be eligible for the resit examination, students must have completed assessment activities accounting for at least 67% of the total course grade. Otherwise, the final grade will be recorded as Not Assessed.


Assessment Activities

  • Written examinations (individual assessment): Two written examinations will be held during the semester (see the course schedule) covering the theoretical contents of the course. Students must complete these examinations individually. Each examination will consist of multiple-choice questions designed to assess students' understanding of the concepts covered in class, as well as their ability to apply and integrate this knowledge correctly. Each examination (Written Examination I and Written Examination II) will account for 35% of the final course grade.
  • Problem-solving sessions (group assessment): The grade for this activity will be calculated as the arithmetic mean of the marks obtained by each group in the different classroom interventions carried out throughout the semester. The problem sets are intended solely as a learning resource and will not be graded. However, a problem set that is not submitted or is incomplete will receive a mark of zero for the calculation of the group's grade. Assessment will consider the accuracy of the answers, the reasoning used to solve the problems, the interpretation of the results, and the ability to respond appropriately to questions posed by the teaching staff. The final mark will be shared by all members of the group and will account for 20% of the final course grade.
  • Seminars (group assessment): The grade for this activity will be based on the oral presentation of the assigned research article. This grade may be adjusted according to the quality of the questions and comments made by students during the presentations of the other groups. Assessment will consider the clarity of the presentation, scientific rigour, appropriate use of scientific terminology, ability to synthesise information, quality of the supporting materials, and compliance with the presentation guidelines. The final mark will be shared by all members of the group and will account for 10% of the final course grade.


Single Assessment

Students may choose to be assessed through a single written examination (individual assessment) covering the theoretical contents of the course. This examination will account for 70% of the final course grade. The remaining 30% will be based on the problem-solving sessions and seminar, which will be assessed continuously throughout the semester (see the previous section).

The single assessment examination will have the same format as the two written examinations scheduled for continuous assessment. It will be held on the same date as Written Examination II, and the same resit policy will apply.

Students wishing to opt for the single assessment system must inform the course coordinator before the first working day of October.


Irregularities in Assessment Activities

Any irregularity committed during an assessment activity (including academic misconduct, plagiarism, or the improper use of artificial intelligence tools, unless such use has been explicitly authorised by the teaching staff) that may significantly affect the assessment of the activity will result in a grade of 0 for that assessment.

In this course, the use of electronic devices with access to artificial intelligence tools is not permitted during written examinations or during the presentations and question sessions in the problem-solving classes. Any breach of this rule will be considered an assessment irregularity.

If multiple irregularities are detected across different assessment activities, the final grade for the course will be 0. In addition, the teaching staff may initiate the corresponding disciplinary procedures in accordance with the University's current regulations.

Bibliography

Alberts B, Johnson A, Lewis J, Raff M, Roberts K and Walter P (2022)* Molecular Biology of the Cell, 7th Edition. Garland Publishing, New York.

                     Free online book resource:

                        http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=mboc4.TOC&depth=2

Bickmore W (1999) Chromosome Structural Analysis; A Practical Approach. Oxford University Press, Oxford.

Bickmore W and Craig J (1997) Chromosome bands: Patterns in the genome. Springer-Verlag Berlin Heidelberg, New York.

Gardner RJM and Sutherland GR (2018) Chromosome Abnormalities and Genetic Counseling, 5th Edition. Oxford University Press. Oxford.

Holmquist GP and Motara MA (1987) The magic of cytogenetic technology. In Cytogenetics. Obe G and Basler A Editors. Springer-Verlag, Berlin.

King M (1993) Species evolution. The role of chromosome change. Cambridge University Press.

Lacadena JR  (1996) Citogenética. Editorial Complutense SA, Madrid.

Lodish H, Scott MP, Matsudaira P, Darnell J, Zipursky L, Kaiser CA, Berk A and Krieger M (2016) Molecular Cell Biology Eighth. WH Freeman Publishers, New York. 

Free online book resource:

                   http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=mcb.TOC

Lynch M (2007) The Origins of Genome Architecture. Sinauer Associates Inc.

Rooney DE (2002) Human Cytogenetics: Constitutional Analysis.  3rd Edition. Oxford University Press. Oxford.

Singh RJ (2002) Plant cytogenetics. CRC Press.

Solari AJ. (2011) Genética Humana. Fundamentos y Aplicaciones en Medicina. 4ª edición. Médica Panamericana. Buenos Aires.

Sumner AT (2003) Chromosomes: Organization and Function. Blackwell Publishing.

Sybenga J (1975) General Cytogenetics. North-Holland Publishing Company. Amsterdam.

Sybenga J (1975) Meiotic Configurations. Springer-Verlag Berlin Heidelberg. New York.

Tost J (2007) Epigenetics. Caister Academic Press.

Turner J (2007) Meiosis. Chromosome research 15. Special issue (5). Springer.

Vogelstein B and Kinzler KW (2002) The Genetic Basis of Human Cancer. 2nd  Edition.  Graw-Hill Professional. New York.

Warshawsky D and Landolph JR. (2006). Molecular Carcinogenesis and the Molecular Biology.

Software

To consult the teaching material provided by the teaching staff, students must have programs that allow opening documents in pdf format.

Course groups and languages

The information provided is provisional until November 30. After this date, you will be able to consult the language of each group through this link. To access the information, you will need to enter the course CODE

Type of teaching Group Language Semester Shift
(TE) Theory 62 Catalan first semester afternoon
(PAUL) Classroom practices 621 Catalan first semester morning-mixed
(PAUL) Classroom practices 622 Catalan first semester morning-mixed