Nevşehir Hacı Bektaş Veli University Course Catalogue

Information Of Programmes

FACULTY OF LETTERS & SCIENCE / MBG 424 - MOLECULAR BIOLOGY AND GENETICS

Code: MBG 424 Course Title: GENETIC DISEASES AND INHERITANCE MECHANISMS Theoretical+Practice: 2+0 ECTS: 3
Year/Semester of Study 4 / Spring Semester
Level of Course 1st Cycle Degree Programme
Type of Course Optional
Department MOLECULAR BIOLOGY AND GENETICS
Pre-requisities and Co-requisites None
Mode of Delivery Face to Face
Teaching Period 14 Weeks
Name of Lecturer ÜMİT KUMBIÇAK (umitkumbicak@nevsehir.edu.tr)
Name of Lecturer(s)
Language of Instruction Turkish
Work Placement(s) None
Objectives of the Course
The aim of this course is to gain knowledge and skills about the types of genetic diseases, mechanisms of inheritance and methods used in the diagnosis of genetic diseases.

Learning Outcomes PO MME
The students who succeeded in this course:
LO-1 can explain the structure of the genome PO-1 Obtain basic knowledge of Biology
PO-2 Develop an understanding of matter and energy in organisms
PO-3 Identify structure-function relationships in cells and organisms
PO-5 Explain transmission of genetic background in organisms and populations
PO-6 Develop an understanding of nature and history of scientific thought
PO-7 Work effectively in multi-disciplinary research teams
PO-9 Find out new methods to improve his/her knowledge
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
PO-16 Explain the scientific findings clearly and efficiently both in written and verbal communications.
LO-2 can explain the types of mutations and the effects of mutations PO-1 Obtain basic knowledge of Biology
PO-3 Identify structure-function relationships in cells and organisms
PO-4 Define the relationship among life forms and their environments and ecosystems
PO-5 Explain transmission of genetic background in organisms and populations
PO-6 Develop an understanding of nature and history of scientific thought
PO-7 Work effectively in multi-disciplinary research teams
PO-9 Find out new methods to improve his/her knowledge
PO-11 Apply biological concepts to personal, social, economical, technological and ethical issues
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
PO-16 Explain the scientific findings clearly and efficiently both in written and verbal communications.
LO-3 can explain chromosomal diseases and heredity forms PO-1 Obtain basic knowledge of Biology
PO-3 Identify structure-function relationships in cells and organisms
PO-5 Explain transmission of genetic background in organisms and populations
PO-7 Work effectively in multi-disciplinary research teams
PO-8 Develop an awareness of continuous learning in relation with modern technology
PO-11 Apply biological concepts to personal, social, economical, technological and ethical issues
PO-12 Demonstrate professional and ethical responsibility
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
PO-16 Explain the scientific findings clearly and efficiently both in written and verbal communications.
LO-4 can explain mitochondria related diseases PO-1 Obtain basic knowledge of Biology
PO-3 Identify structure-function relationships in cells and organisms
PO-5 Explain transmission of genetic background in organisms and populations
PO-6 Develop an understanding of nature and history of scientific thought
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
LO-5 can explain single gene diseases and heredity mechanisms PO-1 Obtain basic knowledge of Biology
PO-3 Identify structure-function relationships in cells and organisms
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
LO-6 can explain multi-factor diseases and mechanisms of inheritance PO-1 Obtain basic knowledge of Biology
PO-2 Develop an understanding of matter and energy in organisms
PO-3 Identify structure-function relationships in cells and organisms
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
PO-16 Explain the scientific findings clearly and efficiently both in written and verbal communications.
LO-7 can explain somatic cell genetic diseases PO-1 Obtain basic knowledge of Biology
PO-3 Identify structure-function relationships in cells and organisms
PO-5 Explain transmission of genetic background in organisms and populations
PO-6 Develop an understanding of nature and history of scientific thought
PO-8 Develop an awareness of continuous learning in relation with modern technology
PO-11 Apply biological concepts to personal, social, economical, technological and ethical issues
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
LO-8 can explain the basic concepts related to genetic counseling PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
PO-16 Explain the scientific findings clearly and efficiently both in written and verbal communications.
PO-17 Survey, analyze and interpret the experimental results and to reach a scientific result using the available scientific data.
LO-9 can explain the methods of diagnosis and treatment of genetic diseases PO-1 Obtain basic knowledge of Biology
PO-3 Identify structure-function relationships in cells and organisms
PO-5 Explain transmission of genetic background in organisms and populations
PO-6 Develop an understanding of nature and history of scientific thought
PO-7 Work effectively in multi-disciplinary research teams
PO-9 Find out new methods to improve his/her knowledge
PO-11 Apply biological concepts to personal, social, economical, technological and ethical issues
PO-12 Demonstrate professional and ethical responsibility
PO-13 Obtain knowledge about current issues in the field of molecular biology and genetics
PO-14 Have knowledge about the main research interests of the molecular biology and genetics
PO-15 Have contributed to scientific advances with research and development abilities
PO-16 Explain the scientific findings clearly and efficiently both in written and verbal communications.
PO-17 Survey, analyze and interpret the experimental results and to reach a scientific result using the available scientific data.
PO: Programme Outcomes
MME:Method of measurement & Evaluation

Course Contents
Structure and organization of genome, chromosomes, gametogenesis, mutations, chromosomal anomalies, genetic diseases showing mendel type inheritance, genetic diseases showing atypical mendel inheritance, multi-factor genetic diseases, somatic cell genetic diseases, mitochodrial diseases, genetic evaluation, genetic counseling
Weekly Course Content
Week Subject Learning Activities and Teaching Methods
1 Genetic diseases overview Explanation Method
2 Structure and organization of the genome Explanation Method
3 Mutation types and effects of mutations Explanation Method
4 Methods used to determine mutations Explanation Method
5 Structure and analysis of chromosomes Explanation Method
6 Gametogenesis Explanation Method
7 Cytogenetic and molecular methods used to detect chromosomal anomalies and chromosomal abnormalities Explanation Method
8 mid-term exam
9 Mendel-type inherited diseases Explanation Method
10 Genetic diseases showing atypical mendel inheritance Explanation Method
11 Genetic expectation, mosaics, uniparental heritability, suppression diseases Explanation Method
12 Multi-factor genetic diseases Mitochondrial diseases Explanation Method
13 Somatic cell genetic diseases Single gene diseases Explanation Method
14 Genetic counseling Explanation Method
15 Methods used in the diagnosis of genetic diseases Explanation Method
16 final exam
Recommend Course Book / Supplementary Book/Reading
1 Tıbbi genetiğin esasları
Required Course instruments and materials
Course book, course presentations

Assessment Methods
Type of Assessment Week Hours Weight(%)
mid-term exam 8 1 40
Other assessment methods
1.Oral Examination
2.Quiz
3.Laboratory exam
4.Presentation
5.Report
6.Workshop
7.Performance Project
8.Term Paper
9.Project
final exam 16 1 60

Student Work Load
Type of Work Weekly Hours Number of Weeks Work Load
Weekly Course Hours (Theoretical+Practice) 2 14 28
Outside Class
       a) Reading 2 6 12
       b) Search in internet/Library 3 6 18
       c) Performance Project 0
       d) Prepare a workshop/Presentation/Report 2 5 10
       e) Term paper/Project 0
Oral Examination 0
Quiz 0
Laboratory exam 0
Own study for mid-term exam 2 5 10
mid-term exam 1 1 1
Own study for final exam 2 5 10
final exam 1 1 1
0
0
Total work load; 90