Course Unit Code | Course Unit Title | Type of Course Unit | Year of Study | Semester | Number of ECTS Credits | FBİ681 | ATYPICAL INHERITANCE DISEASES | Compulsory | 1 | 1 | 6 |
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Level of Course Unit |
Second Cycle |
Objectives of the Course |
To teach inheritance patterns and diseases do not follow classical mendelian rules. |
Name of Lecturer(s) |
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Learning Outcomes |
1 | Mendel kalıtımına uymayan kalıtım modellerini bilir | 2 | Atipik kalıtımla ortaya çıkan hastalıkları bilir | 3 | Mitokondrial genom ve hastalıkları hakkında bilgi sahibi olur | 4 | Upon successful completion of the course, the students will be able to : know the inheritance patterns do not follow classical mendelian rules. | 5 | know the disorders known to be associated with atypical inheritance. | 6 | knowledge mitochondrial genom and diseases. |
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Mode of Delivery |
Formal Education |
Prerequisites and co-requisities |
None |
Recommended Optional Programme Components |
None |
Course Contents |
Genotype-phenotype correlation, atypical inheritance patterns, mozaism, uniparental disomy, genomic imprinting, multifactorial inheritance, somatic cell inheritance, mitochondrial inheritance, and their diseases. |
Weekly Detailed Course Contents |
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1 | Determination of genotype-phenotype correlation | | | 2 | Penetrance, expressivity and modifier genes | | | 3 | Non-allelic gene interactions | | | 4 | Pleiotropy and its effects | | | 5 | Mozaism | | | 6 | Uniparental disomy and mechanisms of its formation | | | 7 | Disorders known to be associated with uniparental disomy | | | 8 | Midterm exam | | | 9 | Genomic imprinting and diseases | | | 10 | Multifactorial inheritance and familial disposition in multifactorial disorders | | | 11 | Multifactorial disorders | | | 12 | Somatic cell inheritance and diseases | | | 13 | Mitochondrial genom and inheritance | | | 14 | Mitochondrial DNA diseases | | | 15 | Trinucleotide repeat diseases | | | 16 | Final exam | | |
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Recommended or Required Reading |
Klug WS, Cummings MR. Genetik Kavramlar. Çeviri Prof.Dr.Cihan Öner, Palme Yayıncılık, 2007.
Başaran N. Tıbbi Genetik. Nobel Tıp Kitabevi, 2002.
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Planned Learning Activities and Teaching Methods |
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Assessment Methods and Criteria | |
SUM | 0 | |
SUM | 0 | Yarıyıl (Yıl) İçi Etkinlikleri | 40 | Yarıyıl (Yıl) Sonu Etkinlikleri | 60 | SUM | 100 |
| Language of Instruction | Turkish | Work Placement(s) | None |
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Workload Calculation |
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Midterm Examination | 1 | 2 | 2 |
Final Examination | 1 | 2 | 2 |
Discussion | 13 | 2 | 26 |
Brain Storming | 13 | 2 | 26 |
Report Preparation | 10 | 3 | 30 |
Report Presentation | 10 | 1 | 10 |
Seminar | 5 | 2 | 10 |
Criticising Paper | 10 | 2 | 20 |
Self Study | 13 | 3 | 39 |
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Contribution of Learning Outcomes to Programme Outcomes |
LO1 | 3 | 3 | 3 | 4 | 4 | 4 | 4 | 4 | LO2 | 4 | 4 | 4 | 4 | 4 | 5 | 4 | 4 | LO3 | 4 | 4 | 4 | 4 | 4 | 5 | 4 | 4 | LO4 | | | | | | | | | LO5 | | | | | | | | | LO6 | | | | | | | | |
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* Contribution Level : 1 Very low 2 Low 3 Medium 4 High 5 Very High |
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