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Information
| Code | BY019 |
| Name | Genetic and Metabolic Diseases |
| Term | 2024-2025 Academic Year |
| Semester | . Semester |
| Duration (T+A) | 3-0 (T-A) (17 Week) |
| ECTS | 6 ECTS |
| National Credit | 3 National Credit |
| Teaching Language | Türkçe |
| Level | Yüksek Lisans Dersi |
| Type | Normal |
| Mode of study | Yüz Yüze Öğretim |
| Catalog Information Coordinator | Prof. Dr. HASAN BASRİ İLA |
Course Goal / Objective
This course aims to make students aware of the diseases caused by genetic, epigenetic and cytoplasmic inheritance.
Course Content
This course includes the topics of the genetic-metabolic disease in humans.
Course Precondition
None
Resources
Compiled Lecture Notes
Notes
Genetics Prof. Dr. Mehmet TOPAKTAŞ
Course Learning Outcomes
| Order | Course Learning Outcomes |
|---|---|
| LO01 | Express the details of the structure of eukaryotic DNA and chromatin |
| LO02 | Sorts and classifies components in gene expression |
| LO03 | Student can brief on cytoplasmic inheritance |
| LO04 | Makes the causal classification of hereditary diseases. |
Relation with Program Learning Outcome
| Order | Type | Program Learning Outcomes | Level |
|---|---|---|---|
| PLO01 | Bilgi - Kuramsal, Olgusal | Based on the undergraduate level qualifications, develops and deepens the knowledge in the same or different field at the level of expertise and analyzes and interprets them using statistical methods. | 4 |
| PLO02 | Bilgi - Kuramsal, Olgusal | Identifies the interdisciplinary interaction that the field is related to. | 5 |
| PLO03 | Bilgi - Kuramsal, Olgusal | Interprets the knowledge gained in the field by integrating the information from different disciplines and creates new information. | 4 |
| PLO04 | Bilgi - Kuramsal, Olgusal | Carries out a study that requires expertise related to the field independently. | 5 |
| PLO05 | Beceriler - Bilişsel, Uygulamalı | Evaluates the knowledge and skills acquired at the level of expertise in the field with a critical approach and directs its learning. | 4 |
| PLO06 | Yetkinlikler - Bağımsız Çalışabilme ve Sorumluluk Alabilme Yetkinliği | Supports the current developments in the field and their studies with quantitative and qualitative data and transmits them both in the field and outside the field systematically in written, oral and visual form. | 3 |
| PLO07 | Yetkinlikler - Öğrenme Yetkinliği | It supervises the social, scientific, cultural and ethical values in the collection, interpretation, application and announcement stages of the data related to the field and teaches these values. | |
| PLO08 | Bilgi - Kuramsal, Olgusal | The information they absorbed in the field; use problem solving and / or practical skills in interdisciplinary studies. | 5 |
| PLO09 | Belirsiz | It contributes to the solution of social, scientific, cultural and ethical problems encountered in the field and supports the development of these values. | |
| PLO10 | Belirsiz | Develops new ideas and methods related to the field by using high level mental processes such as creative and critical thinking, problem solving and decision making. |
Week Plan
| Week | Topic | Preparation | Methods |
|---|---|---|---|
| 1 | Detailed information about eukaryotic cell nucleus | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 2 | Chromatin structure and its modifications | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 3 | DNA replication components and the process of replication | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 4 | Abnormalities during and after replication, and repair mechanism | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 5 | Abnormalities and repair mechanism | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 6 | Transcription of DNA (RNA synthesis) | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 7 | Modifications after transcription | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 8 | Mid-Term Exam | An overview | Ölçme Yöntemleri: Sözlü Sınav |
| 9 | Structure and number mutations of chromosome | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 10 | Gene mutation types. Causes and results of mtDNA mutation | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 11 | Epigenetic mechanisms and details | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 12 | Syndromes resulting from genetic and epigenetic abnormalities. | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 13 | Syndromes resulting from epigenetic abnormalities. | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 14 | Types epigenetic abnormalities. | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 15 | Treatment strategies of genetic and epigenetic abnormalities | Scanning and reading different sources | Öğretim Yöntemleri: Anlatım, Soru-Cevap, Tartışma |
| 16 | Term Exams | An overview | Ölçme Yöntemleri: Sözlü Sınav, Ödev |
| 17 | Term Exams | An overview | Ölçme Yöntemleri: Sözlü Sınav, Ödev |
Student Workload - ECTS
| Works | Number | Time (Hour) | Workload (Hour) |
|---|---|---|---|
| Course Related Works | |||
| Class Time (Exam weeks are excluded) | 14 | 3 | 42 |
| Out of Class Study (Preliminary Work, Practice) | 14 | 5 | 70 |
| Assesment Related Works | |||
| Homeworks, Projects, Others | 0 | 0 | 0 |
| Mid-term Exams (Written, Oral, etc.) | 1 | 15 | 15 |
| Final Exam | 1 | 30 | 30 |
| Total Workload (Hour) | 157 | ||
| Total Workload / 25 (h) | 6,28 | ||
| ECTS | 6 ECTS | ||