| Medical Biology and Genetics (DR) | |||||
| PhD | TR-NQF-HE: Level 8 | QF-EHEA: Third Cycle | EQF-LLL: Level 8 | ||
| Course Code: | TGY6107 | ||||
| Course Name: | Mutation and Mutation Screening Methods | ||||
| Semester: | Fall | ||||
| Course Credits: |
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| Language of instruction: | Turkish | ||||
| Course Condition: | |||||
| Does the Course Require Work Experience?: | No | ||||
| Type of course: | Compulsory Courses | ||||
| Course Level: |
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| Mode of Delivery: | Face to face | ||||
| Course Coordinator: | Prof. Dr. VEYSEL SABRİ HANÇER | ||||
| Course Lecturer(s): | Prof. Dr. Veysel Sabri Hançer | ||||
| Course Assistants: |
| Course Objectives: | The aim of this course is to teach the mechanism of mutation in genetic structure and the possibilities of using artificial mutations to create new genotypes in practice. |
| Course Content: | Changes in chromosome structure and number, mutagenic effect of these changes (chromosome mutations). What is a gene mutation? Examining the molecular level of gene mutations, types, causes. Spontaneous mutations; Errors that occur during the replication of DNA, spontaneous chemical changes. What is a mutagen? Mutagen types; physical mutagens, types of ionizing radiation and chemical mutagens. Types of damage caused by mutagens in the DNA molecule. DNA repair mechanisms. Different mutation detection methods. |
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The students who have succeeded in this course;
1) Course outcomes are compatible with the outcomes of the program. 2) The learning outcomes of the course are clearly defined and measurable. 3) The learning outcomes of the course are regularly checked and updated. 4) The learning outcomes of the course are stated in the syllabus. 5) The learning outcomes and content of the course are continuously evaluated and improved for compliance. 6) There are clear links between learning outcomes and activities and assessments. 7) The learning outcomes of the course are compatible with the learning level. |
| Week | Subject | Related Preparation |
| 1) | Mutation, polymorphism | |
| 2) | Mutation types | |
| 3) | DNA repair systems | |
| 4) | Mutations in the DNA repair system | |
| 5) | Karyotyping | |
| 6) | Polymerase chain reaction | |
| 7) | Restriction fragment lenght polymorphism | |
| 8) | Loop-mediated isothermal amplification- LAMP | |
| 9) | High performance liquid chromatography | |
| 10) | Single strand conformation polymorphism- SSCP | |
| 11) | Sanger DNA sequencing | |
| 12) | Next generation sequencing- NGS | |
| 13) | SNP Array | |
| 14) | comperative genomic hybridization array CGH | |
| 15) | pulsed field gel electrophoresis |
| Course Notes / Textbooks: | Glossary of Genetics and Cytogenetics. Rieger,R et al., (1976). Springer-Verlag. Gen ve moleküler biyolojisi. J.D. Watson (1968). Çeviri Editörü, A.Günalp, Mars Matbaası, Ankara 2- Manual on Mutation Breeding. IAEA (1978). Vienna |
| References: | 1. International human genome sequencing consortium:Finishing the euchromatic sequence of the human genome. Nature. 2004;431(7011):931–45. 2. van Heyningen V, Yeyati PL. Mechanisms of non- Mendelian inheritance in genetic disease. Hum Mol Genet. 2004;13(Spec No 2):R225–33. 3. Eichenlaub-Ritter U. Parental age-related aneuploidy in human germ cells and offspring:A story of past and present. Environ Mol Mutagen. 1996;28(3):211–36. 4. Nakamura Y. DNA variations in human and medical genetics:25 years of my experience. J Hum Genet. 2009;54(1):1–8. 5. Levsky JM, Singer RH. Fluorescence in situ hybridization:Past, present and future. J Cell Sci. 2003;116(Pt 14):2833–8. 6. Jeuken JW, Sprenger SH, Wesseling P. Comparative genomic hybridization:Practical guidelines. Diagn Mol Pathol. 2002;11(4):193–203 |
| Course Learning Outcomes | 1 |
2 |
3 |
4 |
5 |
6 |
7 |
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| Program Outcomes | |||||||
| 1) Follows the current literature in the field of Medical Biology and Genetics, collects information, analyzes and synthesizes it with appropriate evaluation methods and guides clinical practices. | |||||||
| 2) Uses appropriate methods and technological structures for scientific research, establishes the appropriate hypothesis, and determines research methods. | |||||||
| 3) Interprets the results obtained as a result of scientific research, transfers and develops the evidence-based knowledge obtained into applications, presents its results at national and international scientific meetings and publishes them in peer-reviewed journals. | |||||||
| 4) Realizes the principles of lifelong learning by observing professional autonomy within the ethical, deontological and legal framework in Medical Biology and Genetics applications and scientific studies. | 1 | 1 | 1 | 1 | 1 | 1 | 1 |
| 5) Provides interdisciplinary collaboration in academic and clinical environments and has knowledge and skills in problem solving and management. | |||||||
| 6) Uses the information obtained from scientific research and literature for the benefit of society and ensures the shaping of health policies necessary to improve public health and takes part in these policies. | |||||||
| 7) Trains biologists who combine clinical experience and academic knowledge, produce, plan and implement creative solutions in the field of medical biology and have qualified knowledge and skills. | |||||||
| No Effect | 1 Lowest | 2 Average | 3 Highest |
| Program Outcomes | Level of Contribution | |
| 1) | Follows the current literature in the field of Medical Biology and Genetics, collects information, analyzes and synthesizes it with appropriate evaluation methods and guides clinical practices. | 2 |
| 2) | Uses appropriate methods and technological structures for scientific research, establishes the appropriate hypothesis, and determines research methods. | |
| 3) | Interprets the results obtained as a result of scientific research, transfers and develops the evidence-based knowledge obtained into applications, presents its results at national and international scientific meetings and publishes them in peer-reviewed journals. | |
| 4) | Realizes the principles of lifelong learning by observing professional autonomy within the ethical, deontological and legal framework in Medical Biology and Genetics applications and scientific studies. | |
| 5) | Provides interdisciplinary collaboration in academic and clinical environments and has knowledge and skills in problem solving and management. | |
| 6) | Uses the information obtained from scientific research and literature for the benefit of society and ensures the shaping of health policies necessary to improve public health and takes part in these policies. | |
| 7) | Trains biologists who combine clinical experience and academic knowledge, produce, plan and implement creative solutions in the field of medical biology and have qualified knowledge and skills. | 1 |
| Semester Requirements | Number of Activities | Level of Contribution |
| Midterms | 1 | % 40 |
| Final | 1 | % 60 |
| total | % 100 | |
| PERCENTAGE OF SEMESTER WORK | % 40 | |
| PERCENTAGE OF FINAL WORK | % 60 | |
| total | % 100 | |
| Activities | Number of Activities | Workload |
| Course Hours | 16 | 32 |
| Study Hours Out of Class | 16 | 112 |
| Midterms | 1 | 2 |
| Final | 1 | 2 |
| Total Workload | 148 | |