TÜRKÇE
ENGLISH
Information
| Code | BİO502 |
| Name | Principles of Medical Genetics |
| Term | 2024-2025 Academic Year |
| Term | Fall and Spring |
| Duration (T+A) | 4-0 (T-A) (17 Week) |
| ECTS | 6 ECTS |
| National Credit | 4 National Credit |
| Teaching Language | Türkçe |
| Level | Yüksek Lisans Dersi |
| Type | Normal |
| Mode of study | Yüz Yüze Öğretim |
| Catalog Information Coordinator | Prof. Dr. HÜSNÜ ÜMİT LÜLEYAP |
| Course Instructor |
Prof. Dr. DAVUT ALPTEKİN
(A Group)
(Ins. in Charge)
|
Course Goal / Objective
To provide basic information for medical biology, molecular genetics and cytogenetics.
Course Content
Mendelian genetics. Single gene linked inheritance and the interaction between genes. Multiple alleles and Inheritance of blood groups. Multifactorial inheritance and pleitropi. Mitochondrial and cytoplasmic inheritance. Phenotypic expression. Chromosome mutations. Autosomal irregularities, Sex irregularities. Genetic counseling, Prenatal diagnosis. Population genetics. Structure of DNA and replication. Structure of RNA and protein synthesis. Mutations and DNA repair. The control of gene expression. Recombinant DNA. Applications of recombinant DNA. Sex-linked inheritance. Genome analysis and mapping. DNA library. DNA analysis methods. Bacterial Genetics, Transformation, Transduction. Conjugation and plasmids. The organization of the eukaryotic genome. Stem cell. Pharmacogenetics. Behavioral genetics.
Course Precondition
BİO 501 Basic Medical Biology
Resources
Prof.Dr. Halil Kasap, Prof.Dr. Mülkiye Kasap, Prof.Dr. Osman Demirhan, Prof.Dr. Davut Alptekin, Prof.Dr. H. Ümit Lüleyap, Prof.Dr. Ayfer Pazarbaşı, Prof.Dr. Ali İrfan Güzel. Medical Biology and Genetics. Nobel Kitabevi, Genişletilmişl 3. Baskı. 2020.
Notes
G.M. Cooper, R.E. Housman. Hücre Moleküler Yaklaşım. Çeviri Editörleri; Neşe Atabey, Ersan Kalay, Meral Sakızlı, İzmir Tıp Kitabevi Kırtasiye Büro Malz. San. ve Tic.Ltd.Şti. RYedinci Baskı, 2016.
Course Learning Outcomes
| Order | Course Learning Outcomes |
|---|---|
| LO01 | Knows the basic principles of Mendelian genetics. |
| LO02 | Knows inheritance of blood groups and multiple alleles, the multifactorial inheritance, pleiotropi, mitochondrial and cytoplasmic inheritance. |
| LO03 | Knows chromosome mutations, autosomal chromosome irregularities and sex-linked chromosome irregularities. |
| LO04 | Knows DNA and RNA structure, mutations and protein synthesis. |
| LO05 | Knows control of gene expression with recombinant DNA technologies. |
| LO06 | Knows the genome analysis and mapping of sex-linked inheritance. |
| LO07 | Knows bacteria, viruses and bacteria genetics. |
| LO08 | Knows the behavior genetics, pharmacogenetics and stem cells. |
Relation with Program Learning Outcome
| Order | Type | Program Learning Outcomes | Level |
|---|---|---|---|
| PLO01 | Bilgi - Kuramsal, Olgusal | To comprehend the structure and functions of cells and organelles which constitute the basic structure of life | |
| PLO02 | Bilgi - Kuramsal, Olgusal | To recognize the functions of tissue and organ systems | |
| PLO03 | Bilgi - Kuramsal, Olgusal | To examine the structure of genetic material | 4 |
| PLO04 | Bilgi - Kuramsal, Olgusal | To recognize genetic diseases and genes that cause these diseases | 3 |
| PLO05 | Bilgi - Kuramsal, Olgusal | To learn the structure of genes | 1 |
| PLO06 | Bilgi - Kuramsal, Olgusal | To define chromosome and gene mutations | 5 |
| PLO07 | Bilgi - Kuramsal, Olgusal | To classify heredity forms (autosomal dominant, autosomal recessive, gender-dependent dominant and recessive inheritance models) | 5 |
| PLO08 | Bilgi - Kuramsal, Olgusal | To use molecular and cytogenetic analysis | 5 |
| PLO09 | Bilgi - Kuramsal, Olgusal | To be able to explain the numerical and structural anomalies of autosomal and sex chromosomes | 5 |
| PLO10 | Bilgi - Kuramsal, Olgusal | To make DNA isolation from all kinds of tissues | |
| PLO11 | Bilgi - Kuramsal, Olgusal | To prepare PCR | |
| PLO12 | Bilgi - Kuramsal, Olgusal | To make and interpret agarose and polyacrylamide gel electrophoresis | 2 |
| PLO13 | Bilgi - Kuramsal, Olgusal | To measure the obtained DNA on the spectrophotometer | 2 |
| PLO14 | Bilgi - Kuramsal, Olgusal | To apply and interpret QF-PCR technique | 2 |
| PLO15 | Bilgi - Kuramsal, Olgusal | To make cell culture from blood, amnion, chorionic villus biopsy specimens and to obtain chromosome preparation | 3 |
| PLO16 | Bilgi - Kuramsal, Olgusal | To perform karyotype analysis of chromosome preparations and to recognize and interpret all human chromosomes | 3 |
| PLO17 | Beceriler - Bilişsel, Uygulamalı | To interpret a scientific article and to learn how to write a paper | 2 |
Week Plan
| Week | Topic | Preparation | Methods |
|---|---|---|---|
| 1 | Mendelian genetics. Single gene linked inheritance and the interaction between genes. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 2 | Multiple alleles and Inheritance of blood groups. Multifactorial inheritance and pleitropi. Mitochondrial and cytoplasmic inheritance. Phenotypic expression. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 3 | Chromosome mutations. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 4 | Autosomal irregularities, Sex irregularities. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 5 | Genetic counseling, Prenatal diagnosis. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım, Gösteri |
| 6 | Population genetics. Structure of DNA and replication. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 7 | Structure of RNA and protein synthesis. Mutations and DNA repair. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 8 | Mid-Term Exam | Classroom | Öğretim Yöntemleri: Soru-Cevap |
| 9 | The control of gene expression. Recombinant DNA. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 10 | Applications of recombinant DNA. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 11 | Sex-linked inheritance. Genome analysis and mapping. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 12 | DNA library. DNA analysis methods. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 13 | Bacterial Genetics, Transformation, Transduction. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 14 | Conjugation and plasmids. The organization of the eukaryotic genome. | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 15 | Stem cell. Pharmacogenetics. Behavioral genetics | Standard classroom technologies, multimedia tools, projectors, computers. | Öğretim Yöntemleri: Anlatım |
| 16 | Term Exams | Classroom | Öğretim Yöntemleri: Soru-Cevap |
| 17 | Term Exams | Classroom | Öğretim Yöntemleri: Soru-Cevap |
Student Workload - ECTS
| Works | Number | Time (Hour) | Workload (Hour) |
|---|---|---|---|
| Course Related Works | |||
| Class Time (Exam weeks are excluded) | 14 | 4 | 56 |
| Out of Class Study (Preliminary Work, Practice) | 14 | 4 | 56 |
| Assesment Related Works | |||
| Homeworks, Projects, Others | 4 | 8 | 32 |
| Mid-term Exams (Written, Oral, etc.) | 1 | 2 | 2 |
| Final Exam | 1 | 2 | 2 |
| Total Workload (Hour) | 148 | ||
| Total Workload / 25 (h) | 5,92 | ||
| ECTS | 6 ECTS | ||