Cytogenetics
Code: 100761 ECTS Credits: 6| Degree | Type | Year |
|---|---|---|
| 2500004 Biology | OT | 4 |
Contact
- Name:
- Zaida Sarrate Navas
- Email:
- zaida.sarrate@uab.cat
Teachers
- Asuncion Duran Puig
- Sandra Andreu Cortés
Teaching groups languages
You can view this information at the end of this 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 and Contextualisation
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.
Competences
- Be able to analyse and synthesise
- Make changes to methods and processes in the area of knowledge in order to provide innovative responses to society's needs and demands.
- Perform genetic analyses.
- 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.
- 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.
- Take account of social, economic and environmental impacts when operating within one's own area of knowledge.
- Understand the processes that determine the functioning of living beings in each of their levels of organisation.
Learning Outcomes
- Analyse a situation and identify its points for improvement.
- Be able to analyse and synthesise.
- Describe the structure, morphology and dynamics of the eukaryotic chromosome.
- Determine levels of gene, chromosome and genome damage, both spontaneous and induced.
- Perform genetic diagnoses and advise on these.
- Propose new methods or well-founded alternative solutions.
- 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.
- 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.
- Take account of social, economic and environmental impacts when operating within one's own area of knowledge.
Content
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
Activities and Methodology
| Title | Hours | ECTS | Learning Outcomes |
|---|---|---|---|
| Type: Directed | |||
| Classroom practical classes (solved problems exposition) | 5 | 0.2 | 12, 1, 3, 4, 5, 6, 11, 10, 9, 7, 8, 2 |
| Laboratory practices | 12 | 0.48 | 1, 4, 5, 11, 10, 9, 7, 8, 2 |
| Theoretical classes | 35 | 1.4 | 12, 3, 4, 5, 11, 10, 9, 2 |
| Type: Autonomous | |||
| Individual study | 60 | 2.4 | 3, 4, 5, 6, 11, 10, 9, 7, 2 |
| Solve problems | 34 | 1.36 | 12, 3, 4, 5, 6, 10, 9, 7, 8, 2 |
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.
There are 5 sessions of 50 minutes of duration programmed during the course. Within each group, students will be organized into groups of four people. The methodology applied to the classroom will consist of the following phases:
- Students will have a list of exercises (available on the Virtual Campus) that will be resolved in a non-face-to-face way by the established groups. For each of the scheduled sessions, students must work on 4 exercises and prepare an answer dossier.
- At the beginning of each session, each group will deliver to the teacher the answer dossier (one delivery per group). All exercises will be discussed and corrected in the classroom requiring the active participation of the students. Specifically, the teacher will ask a member of the different workgroups to present the resolution of an exercise to the rest of the students. The resolution will be evaluated by the teacher and the qualification obtained will apply to all the members of the workgroup to which the student belongs.
- The answer dossier given by each workgroup will be evaluated as follows: at the end of each session, the teacher will choose a problem, which will be the same for all the groups, and these will be corrected and evaluated by the teacher.
The qualification obtained in Problem-solving activities will be the same for all the members of the group and will contribute to the final qualification of the subject.
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
Continous Assessment Activities
| Title | Weighting | Hours | ECTS | Learning Outcomes |
|---|---|---|---|---|
| Delivery and presentation of solved problems | 15 | 0 | 0 | 12, 4, 5, 11, 10, 9, 7, 8, 2 |
| Delivery of exercises of the laboratory practices | 15 | 0 | 0 | 1, 4, 5, 6, 11, 10, 9, 8, 2 |
| Written examination (individual assessment) | 35 | 2 | 0.08 | 12, 3, 4, 5, 11, 10, 9, 2 |
| Written examination II (individual assessment) | 35 | 2 | 0.08 | 12, 3, 4, 5, 11, 10, 9, 2 |
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 of this part will be obtained by the mean of the qualification obtained by each group of students throughout the course (dossier resolutions) and adding or subtracting up to 1 point out of 10 based on the contributions during the oral resolutions of the problems during the class. The teacher will ensure that each group has made at least one presentation. A problem not delivered or not solved in class will be scored with a zero in the calculation of the average grade of the group.
The assessment of the problems will be performed taking into account the correction in the response, the approach, and the interpretation of the results. The final grade will be shared by all the members of each group and will weigh 15% in the final mark of the subject.
3. Laboratory practices (group evaluation)
The laboratory practical mark will be obtained by the mean of the marks achieved in the exercises performed during thelaboratory 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 fixed in 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.
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.
Free electronic 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 (2021) Plant cytogenetics. 3rd Edition. 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.
-
Tariq A and Aijaz A (2017) Chromosome Structura and Aberrations. Chapter 16. Fluorescence In Situ Hybridization (FISH) and its Applications. Springer.
- 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
No specific software is used.
Language list
| Name | Group | Language | Semester | Turn |
|---|---|---|---|---|
| (PAUL) Classroom practices | 141 | Catalan | second semester | morning-mixed |
| (PLAB) Practical laboratories | 141 | Catalan | second semester | afternoon |
| (TE) Theory | 14 | Catalan | second semester | morning-mixed |