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Information
| Code | BİO610 |
| Name | Inheritance Patterns and Genetic Counseling |
| Term | 2024-2025 Academic Year |
| Semester | . Semester |
| Duration (T+A) | 3-0 (T-A) (17 Week) |
| ECTS | 5 ECTS |
| National Credit | 3 National Credit |
| Teaching Language | Türkçe |
| Level | Doktora Dersi |
| Type | Normal |
| Mode of study | Yüz Yüze Öğretim |
| Catalog Information Coordinator | Prof. Dr. AYFER PAZARBAŞI |
Course Goal / Objective
Presenting Mendelian and non mendelian inheritance, Prenatal diagnosis and Genetic screening and pedigree analysis, interactions of gene-gene and gene-environment and Genetic Counseling
Course Content
Herediter characteristics and Inheritance Patterns, Mendelian inheritance, Single gene Inheritance Patterns, Autosomal dominant and recessive inheritance, X-linked dominant and recessive inheritance patterns, Expression of X-linked genes, Imprinted X inactivation and Random X inactivation, Y-linked inheritance, Complex and multifactorial inheritance, Mitochondrial inheritance, Mosaicism and chimerism, Genomic (or parental) imprinting and uniparental disomy, Penetrance, expressivity and interactions of gene-gene and gene-environment, Prenatal diagnosis and Genetic screening, Genetic Counseling and Pedigree analysis
Course Precondition
BIO 525 CYTOGENETICS To have taken BIO-502 Basic Medical Genetics courses.
Resources
Chromosome Biology Cytogenetic Basic Rules Medical Genetics
Notes
Basic Principles in Genetics
Course Learning Outcomes
| Order | Course Learning Outcomes |
|---|---|
| LO01 | The student tells Herediter characteristics and Inheritance Patterns |
| LO02 | The student expresses Mendelian inheritance |
| LO03 | The student lists single gene Inheritance patterns, autosomal dominant and recessive inheritance |
| LO04 | The student distinguishes inheritance patterns |
| LO05 | The student interprets X-linked dominant and recessive inheritance patterns |
| LO06 | The student evaluates expression of X-linked genes |
| LO07 | The student defines X inactivation |
Relation with Program Learning Outcome
| Order | Type | Program Learning Outcomes | Level |
|---|---|---|---|
| PLO01 | Bilgi - Kuramsal, Olgusal | To make and interpret Medical Genetics, Molecular Genetics and Cytogenetic analyzes | 5 |
| PLO02 | Bilgi - Kuramsal, Olgusal | To have information about genetic diseases | 4 |
| PLO03 | Bilgi - Kuramsal, Olgusal | To have knowledge of Molecular Cell Biology | 5 |
| PLO04 | Bilgi - Kuramsal, Olgusal | To apply fluorescence in-situ hybridization (FISH) technique | 4 |
| PLO05 | Bilgi - Kuramsal, Olgusal | To make DNA isolation and PCR of all kinds of tissue | 2 |
| PLO06 | Bilgi - Kuramsal, Olgusal | To make cell culture of all kinds of tissue (blood, amniotic fluid, chorionic villus biopsy) | 4 |
| PLO07 | Bilgi - Kuramsal, Olgusal | To do cytogenetic analysis by recognizing human chromosomes separately | 2 |
| PLO08 | Bilgi - Kuramsal, Olgusal | To make QF-PCR and to interpret the results | 4 |
| PLO09 | Bilgi - Kuramsal, Olgusal | To have the knowledge and skills to teach Medical Biology and Genetics Courses in Medical Faculties | 2 |
| PLO10 | Bilgi - Kuramsal, Olgusal | To write and implement a research project on his/her own | |
| PLO11 | Bilgi - Kuramsal, Olgusal | To write an article by collecting the information obtained at the end of the research | |
| PLO12 | Yetkinlikler - Öğrenme Yetkinliği | To organize laboratory courses of Medical Biology and Genetics courses at undergraduate level |
Week Plan
| Week | Topic | Preparation | Methods |
|---|---|---|---|
| 1 | Herediter characteristics and Inheritance Patterns | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 2 | Mendelian inheritance | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 3 | Single gene Inheritance Patterns, Autosomal dominant and recessive inheritance | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 4 | X-linked dominant and recessive inheritance patterns | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 5 | Expression of X-linked genes | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 6 | Imprinted X inactivation and Random X inactivation | Literature review and reading | Öğretim Yöntemleri: Tartışma |
| 7 | Y-linked inheritance | Literature review and reading | Öğretim Yöntemleri: Anlatım, Tartışma |
| 8 | Mid-Term Exam | Preparing an presentation | Öğretim Yöntemleri: Tartışma |
| 9 | Complex and multifactorial inheritance | Literature review and reading | Öğretim Yöntemleri: Soru-Cevap |
| 10 | Mitochondrial inheritance | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 11 | Mosaicism and chimerism | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 12 | Genomic (or parental) imprinting and uniparental disomy | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 13 | Penetrance, expressivity and interactions of gene-gene and gene-environment | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 14 | Prenatal diagnosis and Genetic screening | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 15 | Genetic Counseling and Pedigree analysis | Literature review and reading | Öğretim Yöntemleri: Anlatım |
| 16 | Term Exams | Preparing multiple choice and classical tests | Ölçme Yöntemleri: Yazılı Sınav |
| 17 | Term Exams | Preparing multiple choice and classical tests | Ölçme Yöntemleri: Yazılı Sınav |
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 | 1 | 6 | 6 |
| Mid-term Exams (Written, Oral, etc.) | 1 | 8 | 8 |
| Final Exam | 1 | 8 | 8 |
| Total Workload (Hour) | 134 | ||
| Total Workload / 25 (h) | 5,36 | ||
| ECTS | 5 ECTS | ||