MEB726 - BIOLOGY of INHERITANCE

Course Name Code Semester Theory
(hours/week)		 Application
(hours/week)		 Credit ECTS
BIOLOGY of INHERITANCE MEB726 3rd Semester 3 0 3 7
PrequisitesLimited to a quota of 10 students
Course languageTurkish
Course typeElective 
Mode of DeliveryFace-to-Face 
Learning and teaching strategiesLecture
Discussion
Team/Group Work
Problem Solving
Other: Presentation  
Instructor (s)Prof. Pervin Dinçer 
Course objectiveThe aim of this course is to teach biological mechanisms of inheritance and the role of heredity in human pathologies. 
Learning outcomes
  1. Students will; Give the definition of genetic disorders, classify them and learn the modes of inheritance.
  2. Question the cases of Mendelian disorders that deviate from the Mendelian phenotypic ratios and discuss the importance of these concepts in different pathologies.
  3. Predict the causes of autosomal dominant or recessive inheritance of a disease.
  4. Question genotype-phenotype correlations in monogenic disorders.
  5. Learn the maternal mode of inheritance and discuss the effect of maternal inheritance in mitochondrial disorders.
  6. Explain the concept of genomic imprinting and its effect on the expression of some traits.
  7. Discuss the genetic factors in multifactorial/common diseases.
  8. Understand the mechanisms of X inactivation in health and disease.
Course ContentThe topics covered in this course are; modes of inheritance, deviations from Mendelain Laws, reduced penetrance, pleiotropy, genetic heterogeneity, multiple alleles, incomplete dominance, codominance, phenocopy, variable expressivity, haploinsufficiency, dosage compensation, dominant-negative effect, modifier genes, maternal inheritance, genomic imprinting, X inactivation, germline mosaicism, somatic mosaicism and multifactorial inheritance.  
References1. Lewis R, Human Genetics, Concepts and Applications, Mc Graw Hill, 2001.
2. Gelehrter TD, Collins FS, Ginsburg D, Principles of Medical Genetics, Williams and Wilkins, 1998.
3. Nussbaum RL, McInnes R, Willard H, Genetics in Medicine, Thompson and Thompson, 2007. 

Course outline weekly

WeeksTopics
Week 1Definition and classification of genetic disorders, Modes of inheritance of Mendelian traits/monogenic disorders
Week 2Mendelian disorders deviating from Mendelian phenotypic ratios: incomplete dominance, codominance, multiple alleles, de novo mutations, environmental factors
Week 3Article discussion (Presentation)
Week 4Mendelian disorders deviating from Mendelian phenotypic ratios: reduced penetrance, pleiotropy, variable expressivity, germline mosaicism and somatic mosaicism
Week 5Article discussion (Presentation)
Week 6Haploinsufficiency, dosage compensation and dominant-negative effect in Mendelian disorders
Week 7Article discussion (Presentation)
Week 8Genes that influence the phenotype in Mendelian disorders and genetic heterogeneity
Week 9Genomic imprinting and maternal inheritance
Week 10Article discussion (Presentation)
Week 11Multifactorial inheritance and genetic factors in common diseases.
Week 12Article discussion (Presentation)
Week 13X inactivation mechanism
Week 14Homework assignment
Week 15Preparation for the final exam
Week 16Final exam

Assesment methods

Course activitiesNumberPercentage
Attendance00
Laboratory00
Application00
Field activities00
Specific practical training00
Assignments120
Presentation520
Project00
Seminar00
Midterms00
Final exam160
Total100
Percentage of semester activities contributing grade succes640
Percentage of final exam contributing grade succes160
Total100

WORKLOAD AND ECTS CALCULATION

Activities Number Duration (hour) Total Work Load
Course Duration (x14) 14 3 42
Laboratory 0 0 0
Application000
Specific practical training000
Field activities000
Study Hours Out of Class (Preliminary work, reinforcement, ect)149126
Presentation / Seminar Preparation5420
Project000
Homework assignment155
Midterms (Study duration)000
Final Exam (Study duration) 11313
Total Workload3534206

Matrix Of The Course Learning Outcomes Versus Program Outcomes

D.9. Key Learning OutcomesContrubition level*
12345
1. Learn and process the information in the field of cell biology at an academic level (KNOWLEDGE).     
2. Learn and process the information in the field of molecular biology and genetics at an academic level (KNOWLEDGE).     
3. Learn and process the information in the field of inheritance at an academic level (KNOWLEDGE).    X
4. Learn and process the information in the field of genomics and functional genomics at an academic level (KNOWLEDGE).     
5. Have theoretical/ practical skills for preparing and carrying out an independent research project (SKILLS).     
6. Follow and discuss national/international publications (SKILLS).    X 
7. Apply ethical and legal rules at the institutional, national and international level (SKILLS).     
8. Design and implement studies efficiently related to genomics technologies (SKILLS).     
9. Use information technologies and bioinformatics tools effectively (SKILLS).     
10. Take responsibility in a team and/or carry out independent research (QUALIFICATION).     
11. Gain critical thinking and solve scientific problems in accordance with ethical reflection (QUALIFICATION).     
12. Prepare scientific publications for national/international-refereed journals (QUALIFICATION).     
13. Apply biosafety rules and follow good laboratory practices (QUALIFICATION).     
14. Have competence in setting up a new laboratory infrastructure in the field of genomics and manage a working team (QUALIFICATION).     
15. Make scientific presentations at the national/international meetings (QUALIFICATION).     

*1 Lowest, 2 Low, 3 Average, 4 High, 5 Highest