Information Package

Master's of Medical Genetics with Thesis

GEN513

MECHANISMS OF MUTATION

Course Code
GEN513
Semester
-
Theory+Practice
3 + 0
ECTS
6
Course TypeElective Course
Course LevelMaster's Degree With Thesis
Year of Study-
Semester-
ECTS6
Name of Lecturer(s)
Learning Outcomes

At the end of this course, the students;

  1. Knows the concepts of genetic changes, polymorphisms, and mutations,
  2. Knows chromosomal and sequence changes in the genome structure,
  3. Knows the classiffication of mutations according to functions and their phenotypic effects,
  4. Knows physical and chemical mutagens,
  5. Knows proofreading and repair mechanisms to protect genetic integrity in cells,
  6. Knows somatic and germline mutations,
  7. Knows the role of mutations in pathogenesis of diseases
Mode of DeliveryFace to face
PrerequisitesNo
Recommended Optional Programme ComponentsNone
Course DescriptionThe concepts of genetic changes, polymorphisms, and mutations, chromosomal and sequence changes in the genome structure, classiffications according to functions and their phenotypic effects, molecular mechanisms of mutations, physical and chemical mutagens, proofreading and repair mechanisms to protect genetic integrity in cells, somatic and germline mutations, role of mutations in pathogenesis of diseases will be explained in the course.
Course Contents
WEEK TOPICS
1st Week The concepts of genetic changes, polymorphisms, and mutations,
2nd Week Chromosomal and sequence changes in the genome structure,
3rd Week The classiffication of mutations according to functions and their phenotypic effects,
4th Week Molecular mechanisms of mutations,
5th Week Physical and chemical mutagens,
6th Week Proofreading and repair mechanisms to protect genetic integrity in cells,
7th Week Somatic and germline mutations,
8th Week The role of mutations in pathogenesis of diseases
9th Week
Recommended or Required ReadingMolecular Biology of the Gene (7th Edition). James D. Watson, Tania A. Baker, Stephen P. Bell, Alexander Gann, Michael Levine. Benjamin Cummings Press, 2013.
Planned Learning Activities and Teaching Methods
  • Lecture
  • Discussion
  • Questions/Answers
  • Presentation
Assessment Methods and Criteria
Quantity Percentage (%)
Mid-term 1 30
Assignment 1 20
Total(%) 50
Contribution of In-term Studies to Overall Grade(%) 50
Contribution of Final Examination to Overall Grade(%) 50
Total(%) 100
ECTS Allocated Based on Student Workload
Activities Quantity Duration (Hour) Total Workload (Hour)
Midterm exam 1 2 2
Preparation for Quiz 1 5 5
Individual or group work 14 2 28
Preparation for Final exam 1 20 20
Course hours 14 3 42
Preparation for Midterm exam 1 11 11
Laboratory (including preparation)
Final exam 1 2 2
Homework 2 35 70
Total Work Load180
Total Work Load / 30 (h)6
ECTS Credit of the Course6
Language of InstructionTurkish
Work Placement(s)No
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