| Course Type | Elective Course |
|---|
| Course Level | Master's Degree With Thesis |
|---|
| Year of Study | - |
|---|
| Semester | - |
|---|
| ECTS | 6 |
|---|
| Name of Lecturer(s) |
- |
| Learning Outcomes |
At the end of this course, the students;
- Knows how a mutation can lead to a specific disease phenotype
- Knows mapping of human disease-related genetic variations and its? clinical applications
- Knows mapping and characterization of single-gene, mitochondrial genome-related, and multigene diseases.
- Knows chromosome rearrangements in human disorders.
|
| Mode of Delivery | Face to face |
|---|
| Prerequisites | No |
|---|
| Recommended Optional Programme Components | None |
|---|
| Course Description | This course will discuss how a mutation can lead to a specific disease phenotype, mapping human disease-related genetic variations and clinical applications, mapping and characterization of single-gene, mitochondrial genome-related, and multigene diseases, and chromosome rearrangements by means of case studies. |
|---|
| Course Contents |
This course will discuss how a mutation can lead to a specific disease phenotype, mapping human disease-related genetic variations and clinical applications, mapping and characterization of single-gene, mitochondrial genome-related, and multigene diseases, and chromosome rearrangements by means of case studies.
|
| Recommended or Required Reading | Thompson & Thompson Genetics in Medicine, Robert Nussbaum, 7th Edition, Saunders, 2007. |
|---|
| Planned Learning Activities and Teaching Methods |
- Lecture
- Discussion
- Questions/Answers
- Presentation
|
|---|
| Assessment Methods and Criteria |
|
Quantity |
Percentage (%) |
| Mid-term |
1 |
50 |
| Total(%) |
|
50 |
| Contribution of In-term Studies to Overall Grade(%) |
|
50 |
| Contribution of Final Examination to Overall Grade(%) |
|
50 |
| Total(%) |
|
100 |
|
| ECTS Allocated Based on Student Workload |
| Activities |
Quantity |
Duration (Hour) |
Total Workload (Hour) |
| Midterm exam |
1 |
2 |
2 |
| Preparation for Quiz |
1 |
5 |
5 |
| Individual or group work |
14 |
2 |
28 |
| Preparation for Final exam |
1 |
20 |
20 |
| Course hours |
14 |
3 |
42 |
| Preparation for Midterm exam |
1 |
11 |
11 |
| Laboratory (including preparation) |
|
|
|
| Final exam |
1 |
2 |
2 |
| Homework |
2 |
35 |
70 |
| Total Work Load | 180 |
| Total Work Load / 30 (h) | 6 |
| ECTS Credit of the Course | 6 |
|
| Language of Instruction | Turkish |
|---|
| Work Placement(s) | No |
|---|
