DEGREE PROGRAMS  Associate's Degree (Short Cycle)  Bachelor’s Degree (First Cycle)  Master’s Degree (Second Cycle)

Course Description Course Name : Human Genetics Course Code : BL 418 Course Type : Optional Level of Course : First Cycle Year of Study : 4 Course Semester : Spring (16 Weeks) ECTS : 4 Name of Lecturer(s) : Prof.Dr. MEHMET TOPAKTAŞ Learning Outcomes of the Course : 1. Learn the basics of human genetics. 2.Have knowledge on syndromes related with chromosomal aberrations. 3. Learn the methods used to determine whether congenital malformations are hereditary or not. 4.Learn the basics of genetic counseling, 5. Learn and apply the laboratory methods of basic human genetics. Mode of Delivery : Face-to-Face Prerequisites and Co-Prerequisites : BL 415 Evolution Recommended Optional Programme Components : None Aim(s) of Course : To teach the basic human genetics, hereditary diseases and to stress the importance of the health of pregnant women for the next generations. Course Contents : Can be found in lecture course. Language of Instruction : Turkish Work Place : Classrooms of Science and Letter Faculty.   Course Outline /Schedule (Weekly) Planned Learning Activities Week Subject Student's Preliminary Work Learning Activities and Teaching Methods 1 The history of human genetics, the comparison of the genetic structures of human and bacteria. Board and pencil. Lecture presentation. 2 Symbols used in human genetics, human chromosomes, banding properties of human chromosomes. Board and pencil. Explanation of the lecture on the human karyotype and idiogram. 3 Principal genes on human chromosomes. Board and pencil, and the table of the human idiogram. Explanation of the lecture on the idiogram. 4 Human chromosome terminology. Board and pencil. Lecture presentation. 5 Dermatoglyphic. Board and pencil, stample ink. Lecture presentaion, and establishing dermatoglyphics from students. 6 Syndromes and trisomies related with human chromosome abnormalities. Board and pencil. and slides related to the lecture. Explanation of the lecture using figures on the slides. 7 Syndromes related with human chromosome mutations. Board and pencil, necessary material for the human perpheric blood culture and tools. Lecture presentation, and the establishment of chromosome analysis slides from human blood culture. 8 Midterm exam. Written examination. Evaluation of the results of the examination. 9 Gene diseases in human. Board and pencil, slides related to the lecture and chromosome preparations. Explanation of the lecture from slides. Analysis of chromosome slides by students under the light microscope. 10 Autosomal dominant and recessive diseases. Board and pencil, slides related to the lecture and photogreaphs of human chromosome preparations. Explanation of the lecture using figures on the slides. Establishment of human karyogram by students. 11 Gonosomal gene diseases. Board and pencil, slides related to the lecture and the prior preparation for the Barr body examination. Lecture presentation and slide preparation for the microscopic evaluations of Barr body in buccal mucosa cells. 12 Examination methods of genetic factors. Board and pencil, slides related to the lecture and the preparation for the examination of Barr body. Lecture presentation and the examination of the Barr body under the microscope. 13 Congenital malformations and embryopathies caused by environmental factors. Board and pencil, and the prior preparation for the drumstick examination. Lecture presentation and establishing preparations from peripheral blood. 14 Embryopathies. Board and pencil, slides related to the lecture and the prior preparation for the drumstick examination. Explanation of the lecture from slides. Analysis of drumstick under microscope. 15 Genetic counseling. Board and pencil. Oral presentation of the lecture, written and oral examination of lab. lectures. 16/17 Final exam Written examination. Evaluation of the examination.   Required Course Resources Resource Type Resource Name Recommended Course Material(s)  1- Başaran, N. (1996), Medical Genetics, Bilim Teknik Yayınevi, İstanbul Eskişehir 2- Tayşi, K., Say, B. (1975) Medical Genetics, Hacettepe Üniversitesi Yayınları, Ankara 3- Şaylı, B. S. (1988) Medical Genetics, Yargıçoğlu Yayınevi, Ankara 4- Murke, J., Cleve, H. (1984) Human Genetik 3., neu bearbeitete auflage Ferdinand Euke, Verlag, Stuttgart 5- Lecture notes, Prof. Dr. Mehmet Topaktaş. Required Course Material(s)   Assessment Methods and Assessment Criteria Semester/Year Assessments Number Contribution Percentage     Mid-term Exams (Written, Oral, etc.) 1 100     Homeworks/Projects/Others 0 0 Total 100 Rate of Semester/Year Assessments to Success 40   Final Assessments 100 Rate of Final Assessments to Success 60 Total 100   Contribution of the Course to Key Learning Outcomes # Key Learning Outcome Contribution* 1 Develops his/her professional experiences and knowledges by taking elective courses together with basic subjects of biology 5 2 takes responsibility as an individual or in a group to solve unpredicted problems that would be encountered 4 3 plans and manages the projects as a member of team 5 4 informs an indivudual and institutions about the subjects related to biology, and prepare verbal and written presentation to solve the problems 4 5 communicates effectively with colleagues in the world about biological issues and works 0 * Contribution levels are between 0 (not) and 5 (maximum).   Student Workload - ECTS Works Number Time (Hour) Total Workload (Hour) Course Related Works     Class Time (Exam weeks are excluded) 14 4 56     Out of Class Study (Preliminary Work, Practice) 14 1 14 Assesment Related Works     Homeworks, Projects, Others 0 0 0     Mid-term Exams (Written, Oral, etc.) 1 10 10     Final Exam 1 20 20 Total Workload: 100 Total Workload / 25 (h): 4 ECTS Credit: 4