Information Package / Course Catalogue
Human Genetics
Course Code: BYL434
Course Type: Non Departmental Elective
Couse Group: First Cycle (Bachelor's Degree)
Education Language: Turkish
Work Placement: N/A
Theory: 2
Prt.: 0
Credit: 2
Lab: 0
ECTS: 3
Objectives of the Course

This course aims to teach the fundamental components of human genetics, including the structure of the human genome and chromosomes, as well as the causes and inheritance patterns of genetic disorders. It aims to develop students' abilities to analyze genetic diseases based on principles of Mendelian and non-Mendelian inheritance, and to construct and interpret pedigrees. Additionally, the course provides an understanding of somatic cell mutations and the genetic mechanisms underlying cancer, enabling students to evaluate the relationship between human genetics and disease scientifically.

Course Content

This course provides fundamental knowledge on the history of human genetics, the structure of the human genome and chromosomes, nondisjunction events, and the classification and analysis of related genetic disorders. It covers Mendelian and non-Mendelian inheritance patterns, including autosomal dominant/recessive, X-linked, and mitochondrial inheritance. Students will develop skills to identify inheritance patterns of genetic diseases and to perform and interpret pedigree analyses. Additionally, the course examines somatic mutations and the genetic mechanisms of cancer, with a focus on understanding the relationship between genetic material, chromosomal structure, and disease.

Name of Lecturer(s)
Learning Outcomes
1.Explains the basic principles of human genetics and the structure of the human genome.
2.Describes the structure of human chromosomes and evaluates the consequences of chromosomal nondisjunction.
3.Classifies genetic disorders and explains their general characteristics.
4.Explains the causes and effects of chromosomal (cytogenetic) disorders.
5.Identifies single-gene disorders inherited according to Mendelian principles.
6.Performs pedigree analysis and interprets inheritance patterns.
7.Compares and explains autosomal dominant, autosomal recessive, and X-linked inheritance types.
8.Recognizes mitochondrial DNA mutation–related disorders and explains their inheritance features.
9.Explains genetic disorders in somatic cells and the genetic mechanisms involved in cancer development.
Recommended or Required Reading
1.Klug, W.S., Cummings, M.K., 2000. Concepts of genetics, Prentice Hall, USA
2.Sudbery, P., 1998. Human molecular genetics, Longman, USA
3.Russell, P. J., 2000. Fundamentals of genetics, Addison Wesley, USA
4.Strachan T, Read AP, 1999, Human Molecular Genetics, Wiley and Sons Press
5.Haines JL, Pericak-Vance, 1998, Approaches to gene mapping and complex human diseases, Wiley-Liss Press
6.Wegner RD, 1999, Diagnostic Cytogenetics, Springer Verlag Press
7.Massimini K ,2000, Genetic Disorders Sourcebook, Omnigraphics Press
Weekly Detailed Course Contents
Week 1 - Theoretical
Principles of human genetics and history
Week 2 - Theoretical
Structure of the human genome
Week 3 - Theoretical
Cell division and fertilization
Week 4 - Theoretical
Structure of the human chromosome
Week 5 - Theoretical
The results of chromosome non-disjunction
Week 6 - Theoretical
Classification of genetic diseases
Week 7 - Theoretical
Analysis of genetic diseases (Verbal examination)
Week 8 - Theoretical
Chromosomal (cytogenetic) diseases (Midterm Exam)
Week 9 - Theoretical
According to the principle of Mendelian inherited single gene disorders
Week 10 - Theoretical
Pedigree analysis and X-linked dominant and recessive inheritance
Week 11 - Theoretical
Autosomal dominant and autosomal recessive inherited diseases
Week 12 - Theoretical
Multifactorial hereditary diseases
Week 13 - Theoretical
Diseases due to mutations in mitochondrial DNA that do not follow Mendelian rules
Week 14 - Theoretical
Somatic genetic diseases and cancer
Week 17 - Final Exam
Final Exam
Assessment Methods and Criteria
Type of AssessmentCountPercent
Attending Lectures1%5
Verbal Examination1%5
Midterm Examination1%30
Final Examination1%60
Workload Calculation
ActivitiesCountPreparationTimeTotal Work Load (hours)
Lecture - Theory142256
Midterm Examination1819
Final Examination110111
TOTAL WORKLOAD (hours)76
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
4
4
5
OÇ-2
OÇ-3
4
4
5
OÇ-4
3
3
4
OÇ-5
OÇ-6
3
4
4
OÇ-7
OÇ-8
4
3
4
OÇ-9
Adnan Menderes University - Information Package / Course Catalogue
2026