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COURSE UNIT TITLECOURSE UNIT CODESEMESTERTHEORY + PRACTICE (Hour)ECTS
GENETIC DISEASES MBG333 - 3 + 0 4

TYPE OF COURSE UNITElective Course
LEVEL OF COURSE UNITBachelor's Degree
YEAR OF STUDY-
SEMESTER-
NUMBER OF ECTS CREDITS ALLOCATED4
NAME OF LECTURER(S)-
LEARNING OUTCOMES OF THE COURSE UNIT At the end of this course, the students;
1) Learn basic principles of human genetics and genetic disorders.
2) Understand the heritability modes of genetic diseases.
3) Learn the molecular mechanisms of inherited diseases and methods of gene therapies.
4) Learn the moleculer methods used in detection of genes responsible for inherired diseases.
5) Understand the molecular and metabolic mechanisms of inherited diseases.
MODE OF DELIVERYFace to face
PRE-REQUISITES OF THE COURSENo
RECOMMENDED OPTIONAL PROGRAMME COMPONENTNone
COURSE DEFINITIONGenetic diseases course aims to provide information on family tree and inheritance patterns, mechanisms of chromosomal aberrations, single gene diseases (commonly observed and genetic approach), non-Mendelian inheritance and molecular approach treatment methods for genetic diseases.
COURSE CONTENTS
WEEKTOPICS
1st Week Basic genetic concepts
2nd Week Inheritance types
3rd Week Mendelian inheritance
4th Week Single gene inheritance: Autosomal inheritance
5th Week Single gene inheritance: Sex-linked inheritance
6th Week Multifactorial inheritance
7th Week Mitocondrial inheritance
8th Week MIDTERM
9th Week Nonmendelian inheritance
10th Week Mechanisms of genetic diseases: Biochemical and genetic mechanisms
11th Week Mechanisms of genetic diseases: Triple repeat disease
12th Week Identification of genes responsible for hereditary diseases
13th Week Treatment of metabolic anomalies and treatment of protein levels
14th Week Treatment with gene expression control and gene therapy
RECOMENDED OR REQUIRED READINGMolecular basis of inherited disease. 2nd ed. K.E. Davies, A.P. Read. Oxford, 1992.
An Introduction to Human Molecular Genetic: Mechanisms of Inherited Diseases, 2nd Edition, Jack J. Pasternak. Wiley, 2005.
PLANNED LEARNING ACTIVITIES AND TEACHING METHODSLecture,Questions/Answers,Presentation
ASSESSMENT METHODS AND CRITERIA
 QuantityPercentage(%)
Mid-term135
Assignment110
Attendance15
Total(%)50
Contribution of In-term Studies to Overall Grade(%)50
Contribution of Final Examination to Overall Grade(%)50
Total(%)100
ECTS WORKLOAD
Activities Number Hours Workload
Midterm exam122
Preparation for Quiz
Individual or group work14114
Preparation for Final exam13030
Course hours13339
Preparation for Midterm exam12020
Laboratory (including preparation)
Final exam122
Homework11515
Total Workload122
Total Workload / 304,06
ECTS Credits of the Course4
LANGUAGE OF INSTRUCTIONTurkish
WORK PLACEMENT(S)No
  

KEY LEARNING OUTCOMES (KLO) / MATRIX OF LEARNING OUTCOMES (LO)
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K13