Ordu University Lifelong Learning Programme

Description of Individual Course Units

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

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)

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.

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

Week	Theoretical	Practice	Laboratory
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

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.

Planned Learning Activities and Teaching Methods

Assessment Methods and Criteria

Term (or Year) Learning Activities	Quantity	Weight
SUM		0
End Of Term (or Year) Learning Activities	Quantity	Weight
SUM		0
Yarıyıl (Yıl) İçi Etkinlikleri		40
Yarıyıl (Yıl) Sonu Etkinlikleri		60
SUM		100

Language of Instruction

Turkish

Work Placement(s)

None

Workload Calculation

Activities	Number	Time (hours)	Total Work Load (hours)
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
TOTAL WORKLOAD (hours)			165

Contribution of Learning Outcomes to Programme Outcomes

	PO 1	PO 2	PO 3	PO 4	PO 5	PO 6	PO 7	PO 8
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

* Contribution Level : 1 Very low 2 Low 3 Medium 4 High 5 Very High