Rapor Tarihi: 11.04.2026 00:53
| Course Title | Code | Language | Type | Semester | L+U Hour | Credits | ECTS |
|---|---|---|---|---|---|---|---|
| Medical Genetics | TBG502 | Turkish | Compulsory | 3 + 2 | 4.0 | 8.0 |
| Prerequisite Courses | |
| Course Level | Graduate |
| Mode of delivery | Face-to-face; theoretical lectures, case studies, laboratory applications, and current article discussions. |
| Course Coordinator | Prof. Dr. Hüseyin YÜCE |
| Instructor(s) | |
| Goals | To teach the molecular basis of inheritance, mechanisms of genetic diseases, and modern genetic diagnostic methods at an advanced level; to develop students' skills in analyzing genetic data, correlating them with clinical findings, and interpreting them within an ethical framework. |
| Course Content | Organization of the human genome; Mendelian and non-Mendelian inheritance patterns; chromosomal abnormalities and cytogenetics; molecular genetic techniques (PCR, NGS, sequencing); population genetics; cancer genetics; epigenetic mechanisms; principles of genetic counseling and prenatal diagnostic methods. |
| # | Öğrenme Kazanımı |
| 1 | Explains Mendelian and non-Mendelian inheritance patterns at the molecular level and performs risk calculations via pedigree analysis. |
| 2 | Identifies numerical and structural chromosomal abnormalities; evaluates the importance of modern molecular cytogenetic techniques in clinical diagnosis. |
| 3 | Comprehends the principles of molecular genetic methods such as PCR and NGS, and gains the skill to use these methods in diagnosing genetic diseases. |
| 4 | Analyzes cancer genetics, epigenetic mechanisms, and the genetic basis of complex diseases in light of current literature. |
| 5 | Learns principles of genetic counseling and prenatal diagnosis; acts in accordance with ethical and legal rules in sharing and storing genetic data. |
| 6 | Interprets genetic variations using clinical and laboratory data; develops evidence-based solutions for field-specific problems. |
| 7 | Follows current developments in medical genetics and shares scientific information with colleagues through written and oral communication. |
| Week | Topics/Applications | Method |
|---|---|---|
| 1. Week | Introduction to Medical Genetics and Genome Organization | Preparation, After Class Study, Lecture |
| 2. Week | Mendelian Inheritance and Pedigree Analysis | Lecture, Discussion |
| 3. Week | Non-Mendelian Inheritance (Imprinting, Mitochondrial) | Lecture, Discussion |
| 4. Week | Cytogenetics: Numerical and Structural Chromosomal Abnormalities | Lecture, Discussion |
| 5. Week | Molecular Cytogenetic Methods (FISH, aCGH) | Research, Lecture, Discussion |
| 6. Week | Gene Mutations and Variation Types | Lecture, Discussion |
| 7. Week | Molecular Genetic Techniques I: PCR and Electrophoresis | Practice, Lecture, Discussion |
| 8. Week | Molecular Genetic Techniques II: Next-Generation Sequencing | Practice, Lecture, Discussion |
| 9. Week | Population Genetics and Hardy-Weinberg Equilibrium | Lecture, Discussion |
| 10. Week | Genetics of Complex Diseases and Multifactorial Inheritance | Lecture, Discussion |
| 11. Week | Cancer Genetics: Oncogenes and Tumor Suppressor Genes | Lecture, Discussion |
| 12. Week | Epigenetic Mechanisms and Disease Relationships | Lecture, Discussion, Problem Solving |
| 13. Week | Prenatal Diagnosis and Principles of Genetic Counseling | Lecture, Discussion |
| 14. Week | Pharmacogenetics and Personalized Medicine Applications | Lecture, Discussion |
| No | Program Requirements | Level of Contribution | |||||
|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | |||
| 1 | Advanced Field Knowledge: Deeply comprehends and evaluates up-to-date and advanced theoretical and practical knowledge in the field of medical biology and genetics. | ✔ | |||||
| 2 | Scientific Literacy and Literature: Follows national and international literature related to the field and effectively uses databases and information sources to access scientific information. | ✔ | |||||
| 3 | Research and Experimental Design: Develops hypotheses for molecular biology and genetics research, designs appropriate experimental setups, and applies complex methodologies. | ✔ | |||||
| 4 | Data Analysis and Interpretation: Analyzes complex data obtained from laboratory or clinical studies using bioinformatic and statistical methods and interprets the results based on scientific evidence. | ✔ | |||||
| 5 | Problem-Solving Ability: Identifies field-specific problems, develops original research methods to solve these problems, and produces result-oriented strategies. | ✔ | |||||
| 6 | Multidisciplinary Teamwork: Works effectively as an active member or leader individually or within multidisciplinary teams, especially in health sciences. | ✔ | |||||
| 7 | Academic and Professional Ethics: Observes universal ethical principles and legal regulations during the planning, execution, and reporting phases of scientific research. | ✔ | |||||
| 8 | Scientific Communication: Effectively conveys the processes and results of studies in written, visual, and oral formats on national or international platforms. | ✔ | |||||
| 9 | Independent Work and Responsibility: Independently plans, manages, and concludes an advanced study related to the field. | ✔ | |||||
| 10 | Lifelong Learning: Continuously improves knowledge and skills by following technological innovations and current developments in the field. | ✔ | |||||
| Program Requirements | DK1 | DK2 | DK3 | DK4 | DK5 | DK6 | DK7 |
|---|---|---|---|---|---|---|---|
| PY1 | 4 | 4 | 4 | 4 | 4 | 4 | 4 |
| PY2 | 5 | 5 | 5 | 5 | 5 | 5 | 5 |
| PY3 | 4 | 4 | 4 | 4 | 4 | 4 | 4 |
| PY4 | 5 | 5 | 5 | 5 | 5 | 5 | 5 |
| PY5 | 3 | 3 | 3 | 3 | 3 | 3 | 3 |
| PY6 | 3 | 3 | 3 | 3 | 3 | 3 | 3 |
| PY7 | 5 | 5 | 5 | 5 | 5 | 5 | 5 |
| PY8 | 4 | 4 | 4 | 4 | 4 | 4 | 4 |
| PY9 | 4 | 4 | 4 | 4 | 4 | 4 | 4 |
| PY10 | 4 | 4 | 4 | 4 | 4 | 4 | 4 |
| Ders Kitabı veya Notu | Ders Kitabı veya Ders Notu bulunmamaktadır. |
|---|---|
| Diğer Kaynaklar |
|
| ECTS credits and course workload | Quantity | Duration (Hour) | Total Workload (Hour) | |
|---|---|---|---|---|
|
Ders İçi |
Class Hours | 14 | 5 | 70 |
|
Ders Dışı |
Homework | 2 | 5 | 10 |
| Preparation, After Class Study | 14 | 3 | 42 | |
| Research | 14 | 1 | 14 | |
| Presentation (Preparation) | 1 | 15 | 15 | |
| Other Activities | 1 | 20 | 20 | |
|
Sınavlar |
Midterm | 1 | 2 | 2 |
| Midterm Preparation | 1 | 14 | 14 | |
| Final | 1 | 2 | 2 | |
| Classroom Activities | 1 | 16 | 16 | |
| Total Workload | 205 | |||
| *AKTS = (Total Workload) / 25,5 | ECTS Credit of the Course | 8.0 | ||
