MOLECULAR AND CHROMOSOMAL BASIS OF GENETIC DISEASES
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Course Title:
MOLECULAR AND CHROMOSOMAL BASIS OF GENETIC DISEASES
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Course Code:
TTB5007
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Type of Course:
Optional
4
Level of Course:
Second Cycle
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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
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Recommended optional programme components:
None
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Language:
Turkish
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Mode of Delivery:
Face to face
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Course Coordinator:
Prof. Dr. ÜNAL EGELİ
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Course Lecturers:
Prof. Dr. Berrin Tunca Prof. Dr. Gülşah Çeçener
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Contactinformation of the Course Coordinator:
Prof. Dr. Ünal EGELİ egeli@uludag.edu.tr Tıbbi Biyoloji Anabilim Dalı 0224 295 41 51
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Website:
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Objective of the Course:
Understanding the molecular basis of genetic diseases
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Contribution of the Course to Professional Development
Anticipating genetic diseases, contributing to genetic counseling
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Learning Outcomes:
1
Understanding the molecular and chromosomal bases of hereditary types of diseases;
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Understanding the changes occurring at molecular and chromosomal levels and associating them with related diseases;
3
To have knowledge about prenatal diagnosis and genetic counseling;
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Course Content:
Week
Theoretical
Practical
1
Molecular genetic basis of inherited diseases
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Genotypic and phenotypic features of hereditary diseases
3
Genetic Counseling
4
Forms of inheritance
5
Examples of hereditary diseases at the gene level
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Structure of human chromosomes
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Cytogenetic bases of chromosomal diseases
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Structural chromosome anomalies and related diseases
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Numerical chromosome anomalies and related diseases
10
Diseases resulting from sex chromosome anomalies
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Cytogenetic diagnostic methods of chromosomal diseases
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Prenatal diagnosis of chromosomal diseases
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Prenatal diagnosis of molecular diseases
14
Prenatal diagnosis of molecular diseases
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Textbooks, References and/or Other Materials:
Fundamentals of Medical Genetics, S. TOBIAS, Eds: Uğur Özbek Thompson & Thompson Genetics in Medicine, Roderick R. McInnes Huntington F. Willard Robert L. Nussbaum, Elsevier
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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
Semester final exam
Information
One classical exam
25
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
6
84
Homeworks, Performances
0
16
48
Projects
0
0
0
Field Studies
0
0
0
Midtermexams
0
0
0
Others
4
10
40
Final Exams
1
2
2
Total WorkLoad
216
Total workload/ 30 hr
7,2
ECTS Credit of the Course
7
26
CONTRIBUTION OF LEARNING OUTCOMES TO PROGRAMME QUALIFICATIONS
