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| MBGL5038 | Genetics in Medicine | 3+0+0 | ECTS:7.5 | | Year / Semester | Fall Semester | | Level of Course | Second Cycle | | Status | Elective | | Department | DEPARTMENT of MOLECULAR BIOLOGY and GENETICS | | Prerequisites and co-requisites | None | | Mode of Delivery | | | Contact Hours | 14 weeks - 3 hours of lectures per week | | Lecturer | Doç. Dr. Selcen ÇELİK UZUNER | | Co-Lecturer | | | Language of instruction | | | Professional practise ( internship ) | None | | | | The aim of the course: | | It includes understanding human gene and genome structure, human genetic variations (mutations and polymorphisms), chromosomal, genetic, molecular and biochemical bases of diseases. |
| Programme Outcomes | CTPO | TOA | | Upon successful completion of the course, the students will be able to : | | | | PO - 1 : | Understand human gene and genome structure | 1,2,6 | | | PO - 2 : | Understand the genetic, molecular, biochemical and cellular bases of human diseases | 1,2,6 | | | CTPO : Contribution to programme outcomes, TOA :Type of assessment (1: written exam, 2: Oral exam, 3: Homework assignment, 4: Laboratory exercise/exam, 5: Seminar / presentation, 6: Term paper), PO : Learning Outcome | | |
| This course includes human gene and genome structure, chromosomal arrangements, human metabolism and diseases in terms of gene and cell biology. |
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| Course Syllabus | | Week | Subject | Related Notes / Files | | Week 1 | Human gene and genome structure | | | Week 2 | Molecular basis of diseases | | | Week 3 | Genetic basis of diseases | | | Week 4 | Biochemical basis of diseases | | | Week 5 | Genetic variations | | | Week 6 | Single-gene inheritance | | | Week 7 | Complex inheritance of diseases | | | Week 8 | Mid-term exam | | | Week 9 | Genetic Variation in Population and Identifying the Genetic Basis for Human Disease | | | Week 10 | Identifying the Genetic Basis for Human Disease | | | Week 11 | The Molecular Basis of Genetic Disease | | | Week 12 | The Molecular , Biochemical and Cellular basis of Genetic Disease | | | Week 13 | Cancer Genetics and Genomics | | | Week 14 | The Treatment of Genetic Disease | | | Week 15 | Developmental Genetics and Birth Defects | | | Week 16 | Prenatal Diagnosis and Screening | | | |
| 1 | Genetics in Medicine - Thompson and Thompson | | | |
| Method of Assessment | | Type of assessment | Week No | Date | Duration (hours) | Weight (%) | | Mid-term exam | 8 | | 1 | 30 | | In-term studies (second mid-term exam) | 12 | | 2 | 20 | | End-of-term exam | 16 | | 1 | 50 | | |
| Student Work Load and its Distribution | | Type of work | Duration (hours pw) | No of weeks / Number of activity | Hours in total per term | | Yüz yüze eğitim | 3 | 14 | 42 | | Sınıf dışı çalışma | 5 | 10 | 50 | | Arasınav için hazırlık | 5 | 3 | 15 | | Arasınav | 2 | 3 | 6 | | Ödev | 4 | 3 | 12 | | Dönem sonu sınavı için hazırlık | 5 | 12 | 60 | | Dönem sonu sınavı | 2 | 3 | 6 | | Total work load | | | 191 |
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