Information Package / Course Catalogue
Medical Genetics
Course Code: BİO512
Course Type: Area Elective
Couse Group: Second Cycle (Master's Degree)
Education Language: Turkish
Work Placement: N/A
Theory: 3
Prt.: 0
Credit: 3
Lab: 0
ECTS: 6
Objectives of the Course

The goal of the course is to teach human disease, related genes and molecular mechanisms.

Course Content

Structure of human genome, function of genes, hereditary of mutations, single gene and chromosomal anomalies, diagnosis and genetic counseling

Name of Lecturer(s)
Learning Outcomes
1.To be able to understand the hereditary diseases
2.To be able to understand the mutation distributions in population
3.To be able to understand the function of human genes
4.To be able to understand the pedigree analysis
5.To be able to understand the molecular analysis
Recommended or Required Reading
1.Lecturer notes
2.Nussbaum R.L., McInnes R.R. and Willard H.F., (2001), Thompson & Thompson Genetics in Meicine, W.B. saunders Company, ISBN 0-7216-6902-6
3.Levin B., (2004)Genes VIII, Pearson Education Inc. ISBN-0-19-508956-1
4.Sambrook and Russell,(2001) Molecular Clonning, Cold Spring Harbor Laboratory Press, ISBN-0-87969-577-3
5.Temizkan G.,Arda N.(Ed.)(2004),Moleküler Biyolojide Kullanılan Yöntemler,Nobel Kitapevleri,ISBN975-420-347-4
Weekly Detailed Course Contents
Week 1 - Theoretical
İntroduction to human genetics
Week 2 - Theoretical
Choromosomal Basis of heredity
Week 3 - Theoretical
The Human genome: structure and function of genes and chromosomes
Week 4 - Theoretical
Tools of human molecular genetics
Week 5 - Theoretical
Single gene inheritence
Week 6 - Theoretical
Genetic variations; Mutations and Polymorphism
Week 7 - Theoretical
Population genetics
Week 8 - Theoretical
Principles of clinical cytogenetics, Principles of molecular disease
Week 9 - Theoretical
Treatment of genetic disease
Week 10 - Theoretical
Complex inheritence
Week 11 - Theoretical
Prenatal diagnosis
Week 12 - Intermediate Exam
Midterm Exam
Week 13 - Theoretical
Common genetic diseases in Turkey I
Week 14 - Theoretical
Common genetic diseases in Turkey II
Week 15 - Theoretical
Cancer
Week 16 - Theoretical
Genetic counseling and risk assessment
Week 17 - Final Exam
Final Exam
Assessment Methods and Criteria
Type of AssessmentCountPercent
Midterm Examination1%40
Final Examination1%60
Workload Calculation
ActivitiesCountPreparationTimeTotal Work Load (hours)
Lecture - Theory153390
Assignment210224
Midterm Examination120121
Final Examination120121
TOTAL WORKLOAD (hours)156
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
OÇ-1
OÇ-2
OÇ-3
OÇ-4
5
5
3
4
5
5
5
OÇ-5
1
4
3
3
Adnan Menderes University - Information Package / Course Catalogue
2026