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: TGY6006
Course Name: Karyotype Writing Rules
Semester: Spring
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 CLASSIFY CHROMOSOMAL DISEASES, TO LEARN THE PHENOTYPIC AND GENETIC CHARACTERISTICS, TO REPORT NUMERICAL AND STRUCTURAL CHROMOSOME ANOMALIES, TO RECOGNIZE CHROMOSOMES, TO REPORT THE USE AREAS AND RESULTS OF THE FISH METHOD.
Course Content: CHROMATIN CHROMOSOME STRUCTURE, INTRODUCTION TO CHROMOSOMAL DISEASES, PHENOTYPIC AND GENETIC FEATURES OF NUMERICAL AUTOSOMAL CHROMOSOME ANOMALIES, PHENOTYPIC AND GENETIC FEATURES OF STRUCTURAL AUTOSOMAL CHROMOSOME ANOMALIES, PHENOTYPIC AND GENETIC FEATURES OF SEX CHROMOSOME ANOMALIES, OBTAINING CHROMOSOMES, RECOGNITION OF CHROMOSOMES, RECOGNITION OF CHROMOSOME ANOMALIES, REPORTING OF NUMERICAL CHROMOSOME ANOMALIES, REPORTING OF STRUCTURAL CHROMOSOME ANOMALIES, FISH METHOD AND AREAS OF USE, REPORTING FISH RESULTS

Learning Outcomes

The students who have succeeded in this course;
1) DEFINES CHROMATIN CHROMOSOME STRUCTURE
2) DEFINES CHROMOSOMAL DISEASES
3) KNOWS THE PHENOTYPIC AND GENETIC CHARACTERISTICS OF NUMERICAL AUTOSOMAL CHROMOSOME ANOMALIES
4) KNOWS STRUCTURAL AUTOSOMAL CHROMOSOME ANOMALIES AND THE PHENOTYPIC AND GENETIC CHARACTERISTICS
5) PHENOTYPIC AND GENETIC CHARACTERISTICS OF GENDER CHROMOSOME ANOMALIES
6) EXPLAINS THE TECHNIQUES IN OBTAINING CHROMOSOMES
7) RECOGNIZE CHROMOSOMES
8) RECOGNIZE AND CLASSIFY CHROMOSOME ANOMALIES
9) NUMERICAL CHROMOSOME ANOMALIES ARE REPORTED
10) REPORTS STRUCTURAL CHROMOSOME ANOMALIES
11) KNOWS FISH METHOD AND AREAS OF USE
12) REPORTS FISH RESULTS

Course Flow Plan

Week Subject Related Preparation
1) CHROMATINE CHROMOSOME STRUCTURE
2) INTRODUCTION TO CHROMOSOMAL DISEASES
3) PHENOTYPIC AND GENETIC CHARACTERISTICS OF NUMERICAL AUTOSOMAL CHROMOSOME ANOMALIES
4) PHENOTYPIC AND GENETIC FEATURES OF STRUCTURAL AUTOSOMAL CHROMOSOME ANOMALIES
5) PHENOTYPIC AND GENETIC CHARACTERISTICS OF GENDER CHROMOSOME ANOMALIES
6) OBTAINING CHROMOSOMES
7) RECOGNITION OF CHROMOSOMES
8) MID TERM
9) RECOGNITION OF CHROMOSOME ANOMALIES
10) REPORTING OF NUMERICAL CHROMOSOME ANOMALIES
11) REPORTING OF STRUCTURAL CHROMOSOME ANOMALIES
12) FISH METHOD AND AREAS OF USE
13) REPORTING FISH RESULTS
14) FINAL EXAM

Sources

Course Notes / Textbooks: Thompson & Thompson Tıbbi Genetik
Human Molecular Genetics
Tıbbi Genetiğin Esasları Edited by Uğur Özbek
ISCN 2020
References: ÖĞRETİM ÜYESİ VE ÖĞRENCİLERİN HAZIRLADIĞI SUNUMLAR

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 12 36
Homework Assignments 12 36
Midterms 1 3
Final 1 3
Total Workload 120