Medical Biology and Genetics (DR)
PhD TR-NQF-HE: Level 8 QF-EHEA: Third Cycle EQF-LLL: Level 8

Course Introduction and Application Information

Course Code: TGY6016
Course Name: Types of Inheritance That Fit and Don't Follow Mendelian Rules
Semester: Fall
Course Credits:
ECTS
8
Language of instruction: Turkish
Course Condition:
Does the Course Require Work Experience?: No
Type of course: Departmental Elective
Course Level:
PhD TR-NQF-HE:8. Master`s Degree QF-EHEA:Third Cycle EQF-LLL:8. Master`s Degree
Mode of Delivery: Face to face
Course Coordinator: Dr. Öğr. Üy. MURADİYE ACAR
Course Lecturer(s): MURADİYE ACAR
Course Assistants:

Course Objective and Content

Course Objectives: THE AIM OF THIS COURSE IS TO UNDERSTAND BASIC MEDICAL GENETICS TERMS, TO KNOW THE MENDELIAN INHERITANCE PATTERNS, TO LEARN COMMON DISEASES AND INHERITANCE PATTERNS, TO KNOW THE SYMBOLS USED IN PEDIGREE, TO LEARN THE CHARACTERISTICS OF INHERITANCE AND DISEASES THAT DO NOT SHOW MENDELIAN INHERITANCE.
Course Content: TERMS USED IN MEDICAL GENETICS, PEDIGREE DRAWING, GENERAL RULES OF AUTOSOMAL DOMINANT INHERITANCE, DISEASES WITH AUTOSOMAL DOMINANT INHERITANCE AND CLINICAL FEATURES, GENERAL RULES OF AUTOSOMAL RECESSIVE INHERITANCE, DISEASES WITH AUTOSOMAL RECESSIVE INHERITANCE AND CLINICAL FEATURES, GENERAL RULES OF X-LINKED DOMINANT INHERITANCE, DISEASES SHOWING X-LINKED DOMINANT INHERITANCE AND THEIR CLINICAL FEATURES, RULES OF X-LINKED RECESSIVE INHERITANCE, DISEASES AND CLINICAL FEATURES SHOWING X-LINKED RECESSIVE INHERITANCE, RULES AND DISEASES OF PSEUDOOTOSOMAL INHERITANCE, RULES AND DISEASES OF ATYPICAL MENDELIAN INHERITANCE, CHARACTERISTICS AND DISEASES OF MITECHONDRIAL INHERITANCE, GENETICS OF MULTIFACTORIALLY INHERITANT DISEASES

Learning Outcomes

The students who have succeeded in this course;
1) KNOWS TERMS USED IN MEDICAL GENETICS, PEDIGREE DRAWING
2) KNOWS THE AUTOSOMAL DOMINANT INHERITANCE
3) KNOWS DISEASES WITH AUTOSOMAL DOMINANT INHERITANCE
4) UNDERSTANDS THE CHARACTERISTICS OF AUTOSOMAL RECESSIVE INHERITANCE
5) KNOWS DISEASES SHOWING AUTOSOMAL RECESSİVE INHERITANCE
6) UNDERSTAND THE FEATURES OF X-LINKED DOMINANT INHERITANCE
7) KNOWS DISEASES SHOWING X-LINKED DOMINANT INHERITANCE
8) KNOWS DISEASES SHOWING X-LINKED RECESSIVE INHERITANCE AND DISEASES AND CLINICAL FEATURES SHOWING X-LINKED RECESSIVE INHERITANCE
9) UNDERSTAND THE GENETICS OF MULTIFACTORIALLY INHERITANT DISEASES
10) KNOWS THE RULES AND DISEASES OF PSEUDOOTOSOMAL INHERITANCE
11) KNOWS THE RULES AND DISEASES OF ATYPICAL MENDELIAN INHERITANCE
12) KNOWS THE CHARACTERISTICS AND DISEASES OF MITECHONDRIAL INHERITANCE

Course Flow Plan

Week Subject Related Preparation
1) TERMS USED IN MEDICAL GENETICS, PEDIGREE DRAWING
2) GENERAL RULES OF AUTOSOMAL DOMINANT INHERITANCE
3) DISEASES WITH AUTOSOMAL DOMINANT INHERITANCE AND CLINICAL FEATURES
4) GENERAL RULES OF AUTOSOMAL RECESSIVE INHERITANCE
5) DISEASES WITH AUTOSOMAL RECESSIVE INHERITANCE AND CLINICAL FEATURES
6) GENERAL RULES OF X-LINKED DOMINANT INHERITANCE
7) KNOWS DISEASES SHOWING X-LINKED DOMINANT INHERITANCE
8) MİD TERM
9) KNOWS DISEASES SHOWING X-LINKED RECESSIVE INHERITANCE AND DISEASES AND CLINICAL FEATURES SHOWING X-LINKED RECESSIVE INHERITANCE
10) UNDERSTAND THE GENETICS OF MULTIFACTORIALLY INHERITANT DISEASES
11) KNOWS THE RULES AND DISEASES OF PSEUDOOTOSOMAL INHERITANCE
12) KNOWS THE RULES AND DISEASES OF ATYPICAL MENDELIAN INHERITANCE
13) KNOWS THE CHARACTERISTICS AND DISEASES OF MITECHONDRIAL INHERITANCE
14) FIANL EXAM

Sources

Course Notes / Textbooks: Thompson & Thompson Tıbbi Genetik
Human Molecular Genetics
Tıbbi Genetiğin Esasları Edited by Uğur Özbek
References: ÖĞRETİM ÜYESİ VE ÖĞRENCİ TARAFINDA HAZIRLANAN SUNUMLAR VE KİTAPLAR

Course - Program Learning Outcome Relationship

Course Learning Outcomes

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Program Outcomes
1) Follows the current literature in the field of Medical Biology and Genetics, collects information, analyzes and synthesizes it with appropriate evaluation methods and guides clinical practices.
2) Uses appropriate methods and technological structures for scientific research, establishes the appropriate hypothesis, and determines research methods.
3) Interprets the results obtained as a result of scientific research, transfers and develops the evidence-based knowledge obtained into applications, presents its results at national and international scientific meetings and publishes them in peer-reviewed journals.
4) Realizes the principles of lifelong learning by observing professional autonomy within the ethical, deontological and legal framework in Medical Biology and Genetics applications and scientific studies.
5) Provides interdisciplinary collaboration in academic and clinical environments and has knowledge and skills in problem solving and management.
6) Uses the information obtained from scientific research and literature for the benefit of society and ensures the shaping of health policies necessary to improve public health and takes part in these policies.
7) Trains biologists who combine clinical experience and academic knowledge, produce, plan and implement creative solutions in the field of medical biology and have qualified knowledge and skills.

Course - Learning Outcome Relationship

No Effect 1 Lowest 2 Average 3 Highest
       
Program Outcomes Level of Contribution
1) Follows the current literature in the field of Medical Biology and Genetics, collects information, analyzes and synthesizes it with appropriate evaluation methods and guides clinical practices. 2
2) Uses appropriate methods and technological structures for scientific research, establishes the appropriate hypothesis, and determines research methods.
3) Interprets the results obtained as a result of scientific research, transfers and develops the evidence-based knowledge obtained into applications, presents its results at national and international scientific meetings and publishes them in peer-reviewed journals.
4) Realizes the principles of lifelong learning by observing professional autonomy within the ethical, deontological and legal framework in Medical Biology and Genetics applications and scientific studies.
5) Provides interdisciplinary collaboration in academic and clinical environments and has knowledge and skills in problem solving and management.
6) Uses the information obtained from scientific research and literature for the benefit of society and ensures the shaping of health policies necessary to improve public health and takes part in these policies.
7) Trains biologists who combine clinical experience and academic knowledge, produce, plan and implement creative solutions in the field of medical biology and have qualified knowledge and skills. 1

Assessment & Grading

Semester Requirements Number of Activities Level of Contribution
Presentation 1 % 40
Midterms 1 % 30
Final 1 % 30
total % 100
PERCENTAGE OF SEMESTER WORK % 70
PERCENTAGE OF FINAL WORK % 30
total % 100

Workload and ECTS Credit Calculation

Activities Number of Activities Workload
Course Hours 14 42
Presentations / Seminar 13 39
Homework Assignments 14 42
Midterms 1 3
Final 1 3
Total Workload 129