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Course Description Course Name : Principles of Medical Genetics Course Code : BİO502 Course Type : Compulsory Level of Course : Second Cycle Year of Study : 1 Course Semester : Spring (16 Weeks) ECTS : 6 Name of Lecturer(s) : Prof.Dr. MÜLKİYE KASAP Prof.Dr. HALİL KASAP Prof.Dr. OSMAN DEMİRHAN Assoc.Prof.Dr. AYFER PAZARBAŞI Prof.Dr. DAVUT ALPTEKİN Prof.Dr. HÜSNÜ ÜMİT LÜLEYAP Learning Outcomes of the Course : Knows the basic principles of Mendelian genetics. Knows inheritance of blood groups and multiple alleles, the multifactorial inheritance, pleiotropi, mitochondrial and cytoplasmic inheritance. Knows chromosome mutations, autosomal chromosome irregularities and sex-linked chromosome irregularities. Knows DNA and RNA structure, mutations and protein synthesis. Knows control of gene expression with recombinant DNA technologies. Knows the genome analysis and mapping of sex-linked inheritance. Knows bacteria, viruses and bacteria genetics. Knows the behavior genetics, pharmacogenetics and stem cells. Mode of Delivery : Face-to-Face Prerequisites and Co-Prerequisites : BİO501 Principles of Medical Biology Recommended Optional Programme Components : None Aim(s) of Course : To provide basic information for medical biology, molecular genetics and cytogenetics. Course Contents : 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. Language of Instruction : Turkish Work Place : Seminar room   Course Outline /Schedule (Weekly) Planned Learning Activities Week Subject Student's Preliminary Work Learning Activities and Teaching Methods 1 Mendelian genetics. Single gene linked inheritance and the interaction between genes. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 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. Lesson, Discussion. 3 Chromosome mutations. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 4 Autosomal irregularities, Sex irregularities. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion, Demonstration. 5 Genetic counseling, Prenatal diagnosis. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 6 Population genetics. Structure of DNA and replication. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion, Demonstration 7 Structure of RNA and protein synthesis. Mutations and DNA repair. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion, Demonstration 8 The control of gene expression. Recombinant DNA. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 9 Applications of recombinant DNA. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 10 Sex-linked inheritance. Genome analysis and mapping. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 11 DNA library. DNA analysis methods. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 12 Midterm exam Classroom Testing and evaluation with multiple choice questions. 13 Bacterial Genetics, Transformation, Transduction. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 14 Conjugation and plasmids. The organization of the eukaryotic genome. Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 15 Stem cell. Pharmacogenetics. Behavioral genetics Standard classroom technologies, multimedia tools, projectors, computers. Lesson, Discussion. 16/17 Final exam Classroom Testing and evaluation with multiple choice questions.   Required Course Resources Resource Type Resource Name Recommended Course Material(s)  Kasap H, Kasap M, Demirhan O, Alptekin D, Lüleyap Ü, Pazarbaşı A, Güzel Aİ. Medical Biology and Genetics. Editor Halil Kasap, Nobel Tıp Kitabevi, Adana, 2010.  Cooper GM, Hausman RE. The Cell, Molecular Aproach. Third Edition. Editors: Meral Sakızlı, Neşe Atabey. İzmir Tıp Kitabevi, 2006. Required Course Material(s)  Klug WS, Cummings MR. Genetic Concepts, Sixth Edition. Translation Editor: Öner C., Palme Yayıncılık, 2002.   Assessment Methods and Assessment Criteria Semester/Year Assessments Number Contribution Percentage     Mid-term Exams (Written, Oral, etc.) 1 50     Homeworks/Projects/Others 2 50 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 Explains theorical debates of three main areas (philosophy, sociology, psychology) in relation to today´s problems 0 2 Knows the functions of tissues and organ systems. 0 3 Knows the structure of the genetic material. 4 4 Knows the genetic diseases and the genes that cause genetic diseases and disorders. 5 5 Is able to conduct molecular and cytogenetic diagnosis analysis. 2 6 Knows what numerical and structural abnormalities of the autosomes and the sex chromosomes mean and explain them. 5 7 Is able to do DNA isolation from all types of tissue. 2 8 Is able to perform PCR. 1 9 Is able to perform and interpret agarose and polyacrylamide gel electrophoresis. 2 10 Is able to measure the DNA obtained from tissues using a spectrophotometer. 1 11 Is capable of interpreting and implementing QF-PCR technique. 1 12 Is able to cell culture from blood, amniotic, chorionic villus biopsy specimens, and obtain chromosome preparation. 3 13 Is able to recognize and interpret all human chromosomes from the preparations derived from chromosome karyotype analysis. 4 14 Learns how to write and comment on a scientific article. 1 15 Knows the structure of genes. 5 16 Knows the chromosome and gene mutations. 5 17 Knows patterns of inheritance (autosomal dominant, autosomal recessive, sex-linked dominant and recessive inheritance models). 5 * 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 6 84 Assesment Related Works     Homeworks, Projects, Others 2 5 10     Mid-term Exams (Written, Oral, etc.) 1 1 1     Final Exam 1 1 1 Total Workload: 152 Total Workload / 25 (h): 6.08 ECTS Credit: 6