1	Course Title:	MOLECULAR AND CHROMOSOMAL BASIS OF DISEASES
2	Course Code:	TTB5005
3	Type of Course:	Optional
4	Level of Course:	Second Cycle
5	Year of Study:	1
6	Semester:	1
7	ECTS Credits Allocated:	7
8	Theoretical (hour/week):	3
9	Practice (hour/week) :	0
10	Laboratory (hour/week) :	0
11	Prerequisites:	None
12	Recommended optional programme components:	None
13	Language:	Turkish
14	Mode of Delivery:	Face to face
15	Course Coordinator:	Prof. Dr. ÜNAL EGELİ
16	Course Lecturers:	Prof. Dr. Berrin TUNCA Doç. Dr. Gülşah ÇEÇENER
17	Contactinformation of the Course Coordinator:	egeli@uludag.edu.tr 0224 295 41 51 ULUDAĞ ÜNİVERSİTESİ TIP FAKÜLTESİ TIBBİ BİYOLOJİ ANABİLİM DALI
18	Website:
19	Objective of the Course:	Learning basic consepts of molecular and chromosomal basis of genetic disease and linking between other subjects, making clinical approach possible and easier.
20	Contribution of the Course to Professional Development

21

Learning Outcomes:

1 Understanding basic consepts of molecular and chromosomal basis of genetic disease.; 2 Learning of molecular and chromosomal basis of genetic disease.; 3 Linking the tecniques that can be used in therapy with genetic diseases.;

22	Course Content:

Week	Theoretical	Practical
1	Molecular genetic basis of hereditery diseases
2	Genotipic and phenotipic characters of hereditary diseases
3	Genetic consultation
4	Heredity of this type of diseases
5	Exemplify of hereditary disease in gene level
6	Structure of human chromosomes
7	Cytogenetics basis of chromosomal diseases
8	Abnormality of otosomal chromosomes and illustrated diseases
9	Numerical abnormality of chromosomes and illustrated diseases
10	Sex chromosomes abnormalities and illustrated diseases
11	Cytogenetic diagnosis methods of chromosomal diseases
12	Prenatal diagnosis of chromosomal diseases
13	Prenatal diagnosis of molecular diseases
14	Gene therapy methods of molecular diseases

23	Textbooks, References and/or Other Materials:	Medical Genetics, Jorde, Carey, White Human Biology, CL Benjamin, GR Garman, JH Funston,
24	Assesment

TERM LEARNING ACTIVITIES	NUMBER	PERCENT
Midterm Exam	0	0
Quiz	0	0
Homeworks, Performances	0	0
Final Exam	1	100
Total	1	100
Contribution of Term (Year) Learning Activities to Success Grade		0
Contribution of Final Exam to Success Grade		100
Total		100
Measurement and Evaluation Techniques Used in the Course
Information

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ECTS / WORK LOAD TABLE

Activites	NUMBER	TIME [Hour]	Total WorkLoad [Hour]
Theoretical	14	3	42
Practicals/Labs	0	0	0
Self Study and Preparation	14	7	98
Homeworks, Performances	0	0	0
Projects	0	0	0
Field Studies	0	0	0
Midtermexams	0	0	0
Others	4	17	68
Final Exams	1	2	2
Total WorkLoad			210
Total workload/ 30 hr			7
ECTS Credit of the Course			7

26	CONTRIBUTION OF LEARNING OUTCOMES TO PROGRAMME QUALIFICATIONS
PQ1 PQ2 PQ3 PQ4 PQ5 PQ6 PQ7 PQ8 PQ9 PQ10 PQ11 PQ12 LO1 5 5 0 4 0 0 2 2 0 4 0 0 LO2 5 5 0 4 0 0 2 2 0 4 0 0 LO3 5 5 0 4 0 3 2 2 0 4 0 0

LO: Learning Objectives

PQ: Program Qualifications

Contribution Level:

1 Very Low

2 Low

3 Medium

4 High

5 Very High