COURSE UNIT TITLE

: GENETIC VARIATION AND DISEASES

Description of Individual Course Units

Course Unit Code Course Unit Title Type Of Course D U L ECTS
KIM 4256 GENETIC VARIATION AND DISEASES ELECTIVE 2 0 0 4

Offered By

Chemistry

Level of Course Unit

First Cycle Programmes (Bachelor's Degree)

Course Coordinator

PROFESSOR DOCTOR HÜLYA AYAR KAYALI

Offered to

Chemistry (Evening)
Chemistry

Course Objective

In this lecture, the students will learn the mutations in genes and related diseases.

Learning Outcomes of the Course Unit

1   Discuss the gene and genetic diseases,
2   Evaluate the causes of genetic diseases,
3   Explain the reasons and mechanisms of mutation,
4   Express the genetic operation in molecular levels of hereditary diseases,
5   Explain the diagnosis and treatment methods.

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week Subject Description
1 Introduction to Genetics
2 Genetic Changes and Molecular Basics of Diseases
3 Genetic Diversity
4 Genetic Variation in Globin Genes
5 Genes Responsible for Diseases and Specific Genetic Variants-I
6 Genes Responsible for Diseases and Specific Genetic Variants-II
7 Submicroscopic Structural Changes
9 Genomic Diseases and Types-I
10 Genomic Diseases and Types-II
11 DNA Technology in Clinical Diagnosis of Genomic Disorders
12 Interpretation of Application Results
13 Diagnostic Techniques in Mutation

Recomended or Required Reading

Textbook(s): Julian C. Knight, Human Genetic Diversity: Functional Consequences for Health and Disease, Oxford University Press, ISBN: 978-0-19-922769, 2009.
Supplementary Book(s): Rob Elles,Roger Mountford, Mlecular diagnosis of genetic diseases, Humana Press, ISBN:1543-1894, 2004.

Planned Learning Activities and Teaching Methods

Presentation, Question-answer technique, Application, Homework

Assessment Methods

SORTING NUMBER SHORT CODE LONG CODE FORMULA
1 MTE MIDTERM EXAM
2 ASG ASSIGNMENT
3 PAR PARTICIPATION
4 FIN FINAL EXAM
5 FCGR FINAL COURSE GRADE (RESIT) MTE * 0.30 + ASG * 0.20 + PAR * 0.10 + FIN * 0.40
6 RST RESIT
7 FCGR FINAL COURSE GRADE (RESIT) MTE * 0.30 + ASG * 0.20 + PAR * 0.10 + RST * 0.40


*** Resit Exam is Not Administered in Institutions Where Resit is not Applicable.

Further Notes About Assessment Methods

None

Assessment Criteria

Meaningful learning of the basic concepts given in presentations, association of concepts with each other, establishing the cause-result relationships and making comments by using the information available for problems and evaluating idea generation are carried out with mid-term and final exams, active participation to the lecture, homework.

Language of Instruction

Turkish

Course Policies and Rules

To be announced.

Contact Details for the Lecturer(s)

DEU, Faculty of Science, Department of Chemistry e-mail: hulya.kayali@deu.edu.tr

Office Hours

Wednesday 15.00-17.00

Work Placement(s)

None

Workload Calculation

Activities Number Time (hours) Total Work Load (hours)
Lectures 13 2 26
Preparations before/after weekly lectures 13 2 26
Preparation for midterm exam 1 10 10
Preparation for final exam 1 20 20
Preparing assignments 2 4 8
Midterm 1 2 2
Final 1 2 2
TOTAL WORKLOAD (hours) 94

Contribution of Learning Outcomes to Programme Outcomes

PO/LOPO.1PO.2PO.3PO.4PO.5PO.6PO.7PO.8PO.9PO.10PO.11PO.12PO.13PO.14PO.15PO.16PO.17
LO.1555555
LO.25555555
LO.353555555
LO.45555555
LO.553555555