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| MBG4031 | Human Genetics | 3+0+0 | ECTS:4 | | Year / Semester | Fall Semester | | Level of Course | First Cycle | | Status | Compulsory | | 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 | Turkish | | Professional practise ( internship ) | None | | | | The aim of the course: | | It aims to understand the genetic and molecular basis of human diseases by integrating the classical principles of human genetics with modern molecular genetics. |
| Learning Outcomes | CTPO | TOA | | Upon successful completion of the course, the students will be able to : | | | | LO - 1 : | Understanding structures of gene and genome | 1,11 | | | LO - 2 : | Understanding the genetic and molecular bases of human diseases | 1,11 | | | LO - 3 : | Understanding the biochemical basis of human diseases | 1,11 | | | 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), LO : Learning Outcome | | |
| This lecture includes human gene and genome structure, human genetic variations (mutations and polymorphisms), chromosomal, genetic, molecular and biochemical bases of diseases. |
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| Course Syllabus | | Week | Subject | Related Notes / Files | | Week 1 | Human gene and genome structure | | | Week 2 | Genetic Diversity in Human (Mutations and polymorphisms) | | | Week 3 | Chromosomal bases of diseases (Autosomal diseases) | | | Week 4 | Molecular basis of single gene inheritance | | | Week 5 | Molecular basis of single gene inheritance | | | Week 6 | Complex inheritance of multifactorial diseases | | | Week 7 | Complex inheritance of multifactorial diseases | | | Week 8 | Genetic diversity in populations | | | Week 9 | Defifining genetic bases of human diseases | | | Week 10 | Molecular bases of genetic diseases | | | Week 11 | Student presentations | | | Week 12 | Molecular, biochemical and cellular bases of genetic diseases | | | Week 13 | Molecular, biochemical and cellular bases of genetic diseases | | | Week 14 | Developmental genetics and birth defects | | | Week 15 | Genetics and genomics of cancer | | | Week 16 | Final Exam | | | |
| 1 | Tıbbi Genetik -Thompson and Thompson | | | |
| Method of Assessment | | Type of assessment | Week No | Date | Duration (hours) | Weight (%) | | Mid-term exam | 9 | | | 30 | | In-term studies (second mid-term exam) | 11 | | | 20 | | End-of-term exam | 16 | | | 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 | | Arasınav için hazırlık | 5 | 1 | 5 | | Arasınav | 2 | 1 | 2 | | Dönem sonu sınavı için hazırlık | 15 | 1 | 15 | | Dönem sonu sınavı | 2 | 1 | 2 | | Total work load | | | 66 |
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