Undergraduate
Faculty of Science and Letters
Molecular Biology And Genetics
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Human Genetics

Course CodeSemester Course Name LE/RC/LA Course Type Language of Instruction ECTS
MBG6007 Human Genetics 2/0/0 DE Turkish 4
Course Goals
 To describe the human genetics and it's terms, teaching the molecular mechanism of monogenic, polygenic, chromosomal and mitochondrial hereditary genetic diseases by using the OMIM data base and scientific papers, give information about the immunogenetics, pharmacogenetics
Prerequisite(s) -
Corequisite(s) -
Special Requisite(s) -
Instructor(s) Professor Seyhan Altun
Course Assistant(s) -
Schedule Monday; 13:00-15:00
Office Hour(s) Assoc. Prof. Ajda Çoker Gürkan, Friday; 11:00-12:00, Ataköy Campüs, AK/M-Z-09
Teaching Methods and Techniques  - Powerpoint presentations of courses

-Reading and discussing papers related to course subject.

- Video demonstrations linked to couse subject
Principle Sources -Human Genetics: Concepts and Applications, R Lewis, 9. Edition,  McGraw-Hill Science/Engineering/Math, 2009.
-Human Genetics and Genomics, BR. Korf, 3. Edition, Wiley-Blackwel, 2006.
- Thompson & Thompson Genetics in Medicine, R Nussbaum, RR. McInnes,  HF Willard, 7 edition,  Saunders, 2007.
- An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, JJ. Pasternak, 2 edition,Wiley-Liss, 2005.
- A Guide to Genetic Counseling, WR Uhlmann, JL Schuette, B Yashar, 2 edition,  Wiley-Blackwell, 2009.
- A Guide to Human Gene Therapy, RW Herzog, S Zolotukhin, 1. Edition,  Springer, 2010.
 
Other Sources -www.sciencedirect.com

 -www.ncb.nlm.nih.gov.tr
 
Course Schedules
Week Contents Learning Methods
1. Week Introduction to Human Genetics and brief information about human genetics application fields Oral presentation, discussion, demonstration
2. Week Molecular mechanism of rare autosomal monogenic diseases Oral presentation, discussion, demonstration
3. Week Molecular mechanism of rare X-linked monogenic diseases Oral presentation, discussion, demonstration
4. Week Non-Mendelian Genetics Hereditary and Polygenic hereditary and polygenic genetic diseases and characteristics Oral presentation, discussion, demonstration
5. Week Chromosome abnormalities and diagnosis techniques Oral presentation, discussion, demonstration
6. Week Molecular mechanism of metabolic diseases Oral presentation, discussion, demonstration
7. Week Midterm -Analysis, synthesis, evaluation - Oral presentation, discussion, demonstration
8. Week Haemogenetics/Developmental genetics Oral presentation, discussion, demonstration
9. Week Cancer genetics Oral presentation, discussion, demonstration
10. Week Genetics of behavious Oral presentation, discussion, demonstration
11. Week Pharmacogenetics and pharmacogenomics Oral presentation, discussion, demonstration
12. Week Genetic tests and gene therapy Oral presentation, discussion, demonstration
13. Week Actual scientific paper reading and discussion Oral presentation, discussion, demonstration
14. Week Actual scientific paper reading and discussion Oral presentation, discussion, demonstration
15. Week Final exam week: Oral presentation -Analysis, synthesis, evaluation
16. Week Final exam week: Final exam -Analysis, synthesis, evaluation
17. Week Final exam week: -Analysis, synthesis, evaluation
Assessments
Evaluation tools Quantity Weight(%)
Midterm(s) 2 20
Homework / Term Projects / Presentations 1 35
Final Exam 1 45


Program Outcomes
PO-1To apply all knowledge about basic sciences such as mathematics, physics, chemistry and biology to all problems in molecular biology and genetics
PO-2To be able to identify, model and produce solutions against to problems related to molecular biology and genetics
PO-3To start a procedure, proceed and finalize about determined problem by using analytical techniques
PO-4To be able to understand all knowledge about living organisms which is main subject of molecular biology and genetics
PO-5To contribute scientific research and development and add further information
PO-6To be able to analyze data, design an experiment and proceed and annoate the results
PO-7To be able to use current techniques and analysis methods in molecular biology and genetics
PO-8To be able to be a part of a team in disciplinary or multidisciplinary, national or international public problems focused projects and use at least one foreign language for vocational purposes
PO-9To be able to behave individually, take initiative and creativity skills
PO-10To communicate briefly and clear using oral or written presentation skills to present individual working performance and independent decisions
PO-11To carry responsibility to vocational and ethical issues
PO-12To be aware about quality assessment
PO-13To adopt in principle the importance of life-learning subject and graduate self-development by following new literature about field and apply current knowledge
Learning Outcomes
LO-1Can describe the Human genetics and discriminate the genetic variations types
LO-2Can notice the difference between molecular mechanism of Mendelian type hereditary genetic diseases and polygenic hereditary genetic diseases.
LO-3Can comprehend the hereditary of genetic diseases by using the genetic knowledge
LO-4Can figure out the molecular mechanism of hereditary genetic diseases by using the knowledge about advanced molecular biological methods.
LO-5Can investigate the molecular backgorund immunogenetic, developmental genetics and behavioural genetics by comprehending the molecular mechanisim of the disease etiology
LO-6Can comprehend the application and essential role of human genetics in public health and by assimilating the gene therapy methods and create new ideas in this field
LO-7Can use the OMIM data base about the human genetic disease and can get knowledge by finding the scientific papers, present and discuss about the subject
Course Assessment Matrix:
Program Outcomes - Learning Outcomes Matrix
 PO 1PO 2PO 3PO 4PO 5PO 6PO 7PO 8PO 9PO 10PO 11PO 12PO 13
LO 1
LO 2
LO 3
LO 4
LO 5
LO 6
LO 7