Guide in PDF format

Cytogenetics

Code: 101888
Credits: 6

2026/2027

Degree programme	Type	Course
Biomedical Sciences	OP	4

Contact lecturer

Name :: Zaida Sarrate Navas
Email :: zaida.sarrate@uab.cat

Teaching staff

: Asuncion Duran Puig
: Ot Massafret Surinyach
: Sandra Andreu Cortés

Group languages

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

Prerequisites

Knowledge required to follow up on the subject:

1. To understand the basics of the subjects "Cell Biology" and "Genetics".

2. To understand specific aspects of these subjects: Mendelian principles, chromosome theory of inheritance, the flow of genetic information, the cell cycle principles and the mechanisms of cell division.

3. To read correctly in English.

4. To use at the user level, basic computer tools (Internet, PowerPoint, and Word Processor).

Objectives

Cytogenetics is a hybrid discipline that draws on concepts of Cell Biology and Genetics. The convergence of issues from these areas has contributed to the development of a modern and dynamic science that has as a main objective the study of the chromosome.

The progress of this discipline has been characterized by the combination of conventional and modern techniques, as well as a continuous exchange between the development of new methods and the formulation of new hypotheses. This has significantly improved the understanding of the chromosome, providing a dynamic conception of this cell structure and developing to the limits the structure-function binomial.

In recent years, the consolidation of Cytogenetics has resulted in an alive discipline, approaching the borders of other disciplines with significant repercussions and applications in human health, agriculture, and evolution.

In this context, the objectives of the subject are:

1. To offer a comprehensive view into the structure and behavior of chromosomes to guarantee the preservation of genetic information, its transmission from parents to children, and gene expression.

2. To study chromosome variations, from the mechanisms that originate them to the genetic consequences for the offspring.

3. To perform a comprehensive analysis of the cytogenetics applications in human health, agricultural genomics, and speciation studies.

Learning outcomes

Work as part of a group with members of other professions, understanding their viewpoint and establishing a constructive collaboration.
Understand and describe the structure, morphology and dynamics of eukaryote chromosomes in the different stages of the cell cycle.
Interpret the forms of specialised chromosomes from the development of the structure-function binomial.
Recognise genetic anomalies in spermatogenesis and ovogenesis related to a phenotype of sterility.
Identify chromosome variants and anomalies, understand the mechanisms that originate them and determine the risk of their transmission to descendents.
Select the applications of cytogenetics in the field of the evolution of species, in the improvement of human health and in the genetic improvement of plants.
Contrast the techniques and methods that allow genetic diagnosis.
Recognise the anomalies of human chromosomes and assess their consequences.
Describe the genetic techniques for the study and prevention of sterility and infertility.
Apply the basic techniques commonly used in the cytogenetics laboratory.
Interpret scientific publications and solve problems and typical cases in the area of cytogenetics.
Correctly use the terminology of genetics and its text and reference books
Students must have and understand knowledge of an area of study built on the basis of general secondary education, and while it relies on some advanced textbooks it also includes some aspects coming from the forefront of its field of study.
Students must be capable of applying their knowledge to their work or vocation in a professional way and they should have building arguments and problem resolution skills within their area of study.
Students must be capable of collecting and interpreting relevant data (usually within their area of study) in order to make statements that reflect social, scientific or ethical relevant issues.
Students must be capable of communicating information, ideas, problems and solutions to both specialised and non-specialised audiences.
Students must develop the necessary learning skills to undertake further training with a high degree of autonomy.
Make changes to methods and processes in the area of knowledge in order to provide innovative responses to society's needs and demands.
Take account of social, economic and environmental impacts when operating within one's own area of knowledge.

PART I: ORGANIZATION OF HEREDITARY MATERIAL IN EUCARYOTES

Chapter 1. Overview

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 normal chromosomes

Chapter 6. Permanently specialized chromosomes

PART IV: TECHNIQUES FOR CHROMOSOME IDENTIFICATION AND ANALYSIS

Chapter 7. The basics of the cytogenetic analysis

Chapter 8. Chromosome identification techniques

PART V: GENETIC AND EPIGENETIC ANOMALIES

Chapter 9. Alterations of the karyotype

Chapter 10. Chromosome structural anomalies

Chapter 11. Chromosome numerical anomalies

Chapter 12. Epigenetic anomalies

PART VI: CYTOGENETICS APPLICATIONS

Chapter 13. Applications in speciation studies

Chapter 14. Applications in human health

Chapter 15. Applications in plant breeding

Learning activities and methodology

Title	Hours	ECTS	Learning outcomes
Individual study	60	2.4	2, 3, 4, 5, 6, 7, 8, 9, 12, 13, 14, 16, 17, 18
Laboratory practices	12	0.48	1, 7, 8, 9, 10, 11, 12, 13, 15, 16, 17
Solve problems	34	1.36	1, 2, 3, 4, 5, 6, 8, 9, 11, 12, 14, 15, 16, 17, 18, 19
Theoretical classes	35	1.4	2, 3, 4, 5, 6, 8, 9, 12, 13, 16, 17, 18, 19
Classroom practical classes (oral discussion of problems solved)	5	0.2	1, 2, 3, 4, 5, 6, 8, 11, 12, 13, 14, 15, 16, 17, 18, 19

Theoretical classes: The content of the theoretical program will be given by the teacher as master classes, with audio-visual support and encouraging the active participation of students through reciprocal questions. This teaching methodology will be applied in 50-minute sessions. The tables, figures and graphics used in class will be available in *pdf format on the Virtual Campus. Students may also consult on this platform the videos, animations and websites used in class. The study of the theory program implies that students have to regularly consult the books and review articles selected by the teacher (see Bibliography section). The articles will be available on the Virtual Campus in *pdf format.

Problem-solving classes: This learning methodology has the following objectives:

To initiate the student in the resolution of representative experiments that clearly illustrate new advances in cytogenetics.
To consolidate the concepts developed in theoretical classes, as well as evaluate the implications that arise from them.
To initiate the students in the scientific method, working with the learning objectives especially related to reasoning, critical judgment and communicative skills.

Students will participate in 5 problem-solving sessions, each lasting 50 minutes. They will be organized into working groups of three or four members. The methodology applied in the classroom will consist of the following phases:

Students will be provided with a list of problems (available in Virtual Campus) that they must solve collaboratively outside the classroom in their assigned groups. For each of the 5 scheduled sessions, students will be required to work on the 3 or 4 problems selected by the teacher. Preparing a portfolio containing the solutions is recommended, although it will not need to be submitted to the teacher.
In each session, students will be expected to participate actively in solving and discussing the problems previously worked on outside the classroom before the problem-solving session. Specifically, the instructor will randomly select a member from each working group to present the solution to a problem and explain it to the rest of the class. During the session, the instructor will ask each group additional questions related to the problem that has been solved. The oral presentation of the solution and the responses to the additional oral questions will be assessed by the teacher, and the grade obtained will apply to all members of the working group to which the student belongs.

Laboratory practices: Practices will be carried out in groups of two people. The students will have a guideline document (Virtual Campus of the subject) to address practical sessions. To facilitate the understanding of the contents and good development of the classes, it is advisable that the student read the practice guideline before each session. During the elaboration of the practices, students will have to solve face-to-face exercises facilitated by the teacher.

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
Delivery of exercises of the laboratory practices	15	0	0	1, 2, 7, 8, 9, 10, 11, 12, 14, 15, 16, 17
Written examination II (individual assessment)	35	2	0.08	2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 13, 16, 17
Written examination I (individual assessment)	35	2	0.08	2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 13, 16, 17
Delivery and presentation of solved problems	15	0	0	1, 2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 13, 14, 15, 16, 17, 18, 19

To pass the subject it is mandatory to obtain a final grade equal to or greater than 5 points out of 10 based on the contributions of the different evaluation activities. Students who perform fewer than 50% of the evaluation activities will be considered as not evaluated.

CONTINUOUS EVALUATION

1. Written exam (individual evaluation):

During the semester, two written tests (see course program) will be carried out on the theoretical contents of the subject. The objective is to evaluate the mastery of the concepts and the knowledge exposed in class, verifying the ability to apply and relate them.

Each test will weigh 35% on the final qualification of the subject. Students must obtain a minimum score of 4 points of the mean of the two written exams. To participate in the retake process students should have been previously evaluated in a set of activities equaling at least two-thirds of the final score of the course.

2. Problem-solving (group evaluation)

The qualification for this component will be calculated as the arithmetic mean of the scores obtained by each student group across the 5 problem-solving sessions conducted throughout the course. The teacher will ensure that each group delivers at least three presentations during the semester. The assessment of the problem-solving activities will take into account the accuracy of the answers, the approach used, and the interpretation of the results, as well as the correctness and sound justification of the responses to the oral questions posed. The final grade will be shared by all members of each group and will account for 15% of the final course grade.

For this subject, the use of Artificial Intelligence (AI) technologies is allowed exclusively in support tasks, such as bibliographic or information searches and text correction within the framework of problem solving. The student must clearly identify which parts have been generated with this technology, specify the tools used and include a critical reflection on how these have influenced the process and the final result of the activity. The lack of transparency in the use of AI in this assessable activity will be considered a lack of academic honesty and may lead to a partial or total penalty in the grade of the activity, or greater sanctions in serious cases.

3. Laboratory practices (group evaluation)

The laboratory practical mark will be obtained by the mean of the marks achieved in theexercises performed during the laboratory sessions. The assessment of the exercises will be performed by taking into account the correction in the response, the approach, and the interpretation of the results. The practical mark will be shared by all the members of each group and will be equivalent to 15% of the final mark.

Taking into account that practical sessions attendance is mandatory, an unjustified absence implies a penalty in the mark applying the following criteria:

To miss one day implies a reduction of 30% in the laboratory practice mark.
To miss two or more days implies a zero on the practice mark.

Students who can not attend their group session due to a justified cause are exempt from this penalty. The justified cause is understood to be health problems (the corresponding medical certificate must be brought to the coordinator of the practices) or serious personal problems. In this case, the practice will be recovered whenever possible.

UNIQUE EVALUATION

The unique evaluation consists of a synthesis written test in which the contents of the entire theorical program of the subject will be assessed. This test will weigh 70% on the final qualification of the subject. This test will be held on the same date fixedin the calendar for the second exam of the continuous evaluation, and the same recovery system will be applied as for the continuous assessment. In order to use the qualification obtained in this synthesis test to calculate the final mark of the subject, students must obtain a minimum score of 4 points in this exam.

The evaluation of problem-solving and laboratory practices will be carried out in the same way as described in the continuous evaluation, and will also have the same weight in the final mark.

The same retake process and the not evaluated criteria will be applied as for continuous evaluation.

Any irregularity committed in an assessment activity (academic fraud, plagiarism, or improper use of AI, unless such use is expressly authorized in the course syllabus) that may lead to a significant alteration of the grade will result in that assessment being graded with a 0 (fail). If the course guide stipulates that obtaining a minimum grade in that assessment is an essential requirement to pass the course, or if multiple irregularities occur in the assessment activities of the same course, the final grade for the course will be 0. In addition, disciplinary proceedings may be initiated against any student who commits any of these irregularities.

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 electronic resource:

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

Andreeff M and Pinkel D (1999) Fluorescence in situ hybridization: Principles and clinical apllication. Wiley-Liss. New York.

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 Cyogenetics. Obe G and Basler A Editors. Springer-Verlag, Berlin.
ISCN (An International System for Human Cytogenomic Nomenclature 2016, 2020) Karger Publishers.

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. 8th Edition. WH Freeman Publishers, New York.