Information Package / Course Catalogue
Hereditary Diseases
Course Code: TL071
Course Type: Non Departmental Elective
Couse Group: Short Cycle (Associate's Degree)
Education Language: Turkish
Work Placement: N/A
Theory: 2
Prt.: 0
Credit: 2
Lab: 0
ECTS: 2
Objectives of the Course

To learn the causes, symptoms, diagnosis, treatment of inherited diseases and have knowledge about prevention.

Course Content

The terms of genetic and heredity, mutation and its types, mutagens, chromosomal, monogenic and poligenic defects, polyploidy, aneuploidy, trisomi types of somatic chromosomes, sex chromosome aneuploidies, diseases caused by mutation in genes, sex-linked inherited diseases, clinical laboratory evaluation and screening tests, preventation

Name of Lecturer(s)
Prof. Canan HAZIR
Learning Outcomes
1.To learn the terms belong to genetic and heredity.
2.To learn mutation and mutagens.
3.To learn chromosomal inherited diseases .
4.To learn inherited diseases related to gene mutation.
5.To learn diagnosis, treatment process of inherited diseases and preventation .
Recommended or Required Reading
1.Klug, W.S. and Cummings, M.R. 2002. Genetik Kavramlar. Palme yayınevi, Ankara, 816 s.
2.Başaran, A. 2010. Tıbbi Biyoloji, Ders kitabı. Pelikan yayıncılık, Ankara. 584 s.
3.Bozcuk, A.N. 2000. Genetik. Palme yayıncılık, Ankara, 320 s
4.Campbell, N.A. and Reece, J.B. 2008. Biyoloji. Palme yayıncılık, Ankara, 1247 s.
Weekly Detailed Course Contents
Week 1 - Theoretical
The terms of genetic and heredity
Week 2 - Theoretical
Chromosomes
Week 3 - Theoretical
Mutation
Week 4 - Theoretical
Chromosomal, monogenic and poligenic defects
Week 5 - Theoretical
Changes in chromosome number: Polyploidy, aneuploidy
Week 6 - Theoretical
Trisomi types of somatic chromosomes: Patau syndrome, Edward syndrome, Down syndrome
Week 7 - Theoretical
Sex chromosome aneuploidies: Turner syndrome, Klinefelter syndrome, Jacobs syndrome
Week 8 - Intermediate Exam
Autosomal Dominant Diseases: Huntington's disease, Marfan Syndrome
Week 9 - Theoretical
Autosomal Recessive Diseases: Phenolketonuria, Tay-Sacs Disease
Week 10 - Theoretical
Autosomal Recessive Diseases: SMA (Spinal Muscular Atrophy)
Week 11 - Theoretical
Sex-linked inherited diseases
Week 12 - Theoretical
Diseases Related to X Chromosome
Week 13 - Theoretical
Diseases Related to Y Chromosome
Week 14 - Theoretical
Diseases Related to X and Y Chromosomes
Assessment Methods and Criteria
Type of AssessmentCountPercent
Midterm Examination1%40
Final Examination1%60
Workload Calculation
ActivitiesCountPreparationTimeTotal Work Load (hours)
Lecture - Theory140228
Individual Work121018
Midterm Examination1314
Final Examination1314
TOTAL WORKLOAD (hours)54
Contribution of Learning Outcomes to Programme Outcomes
PÇ-1
PÇ-2
PÇ-3
PÇ-4
PÇ-5
PÇ-6
PÇ-7
PÇ-8
PÇ-9
PÇ-10
PÇ-11
PÇ-12
PÇ-13
PÇ-14
PÇ-15
PÇ-16
PÇ-17
OÇ-1
4
4
OÇ-2
4
4
OÇ-3
4
4
OÇ-4
4
4
OÇ-5
4
4
Adnan Menderes University - Information Package / Course Catalogue
2026