Information Package / Course Catalogue
Hereditary Diseases
Course Code: ACİL160
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 have knowledge about the causes, symptoms, diagnoses, treatments and precautions of hereditary diseases.

Course Content

Terms and concepts related to genetics and heredity, mutation and types, mutagens, chromosomal, monogenic and polygenic disorder concepts, number changes in chromosomes: polyploidy and aneuploidy, somatic chromosome trisomy types: patau syndrome, edward syndrome, down syndrome, sex chromosome aneuploidies: turner syndrome, klinefelter syndrome, jacobs syndrome, gene mutations: phenyl ketonuria, huntington's disease, sickle cell anemia, sex-linked inherited diseases: hemophilia, fragile x syndrome, clinical laboratory evaluation of inherited diseases and screening tests, prevention of inherited diseases.

Name of Lecturer(s)
Learning Outcomes
1.Analyzes genetic and inheritance principles through their application to clinical case scenarios.
2.Critically evaluates the impact of mutations and mutagenic agents on human health
3.To learn chromosome-related hereditary diseases.
4.Analyzes and systematically classifies the molecular and cellular mechanisms underlying genetic disorders.
5.Develops and plans prevention, diagnostic, and therapeutic strategies for hereditary diseases within a clinical practice framework.
Recommended or Required Reading
1.Thompson & Thompson Medical Genetics, Prof. Dr. Mehmet Alikaşifoğlu, 2019, Güneş Medical Publishing House.
2.Campbell, N.A. and Reece, J.B. 2008. Biology. Palme publishing, Ankara, 1247 pp.
Weekly Detailed Course Contents
Week 1 - Theoretical
Terms and concepts related to genetics and heredity
Week 2 - Theoretical
Chromosomes
Week 3 - Theoretical
Mutation
Week 4 - Theoretical
Chromosomal, Monogenic and Polygenic disorder concepts
Week 5 - Theoretical
Number changes in chromosomes: Polyploidy and Aneuploidy
Week 6 - Theoretical
Somatic chromosome trisomy types: Patau syndrome, Edward syndrome, Down syndrome
Week 7 - Theoretical
Sex chromosome aneuploidies: Turner syndrome, Klinefelter syndrome, Jacobs syndrome
Week 8 - Theoretical
Autosomal Dominant Diseases: Huntington's disease, Marfan Syndrome/ MIDTERM EXAM
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
X Chromosome Related Diseases
Week 13 - Theoretical
Y Chromosome Related Diseases
Week 14 - Theoretical
X and Y Chromosome Related Diseases
Assessment Methods and Criteria
Type of AssessmentCountPercent
Attending Lectures1%5
Quiz1%5
Midterm Examination1%30
Final Examination1%60
Workload Calculation
ActivitiesCountPreparationTimeTotal Work Load (hours)
Lecture - Theory140228
Presentation 1112
Quiz1516
Midterm Examination1516
Final Examination1516
TOTAL WORKLOAD (hours)48
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
OÇ-1
3
3
3
4
3
3
3
4
3
3
3
3
3
OÇ-2
3
3
4
5
4
4
3
4
3
3
3
3
3
OÇ-3
3
3
3
4
3
3
3
4
3
3
3
3
3
OÇ-4
3
3
3
4
3
4
3
4
3
3
3
3
3
OÇ-5
3
3
3
4
4
3
3
4
3
3
3
4
3
Adnan Menderes University - Information Package / Course Catalogue
2026