COURSE UNIT TITLE

: MEDICAL GENETICS

DEGREE PROGRAMMES

Description of Individual Course Units

Course Unit Code Course Unit Title Type Of Course D U L ECTS
TBG 6108 MEDICAL GENETICS ELECTIVE 2 0 0 6

Offered By

Medical Biology and Genetics

Level of Course Unit

Third Cycle Programmes (Doctorate Degree)

Course Coordinator

ASSISTANT PROFESSOR ÇIĞDEM ERESEN YAZICIOĞLU

Offered to

Medical Biology and Genetics

Course Objective

To acquire advance concepts of human genetics through genetic syndromes and disease models.

Learning Outcomes of the Course Unit

1   to know Mendelian and non-Mendelian inheritance patterns, and comments on pedigrees.
2   to know the mechanism of mythocondrial and trinucleotide repeat diseases mutations and inheritance, and to comment on pedigrees.
3   to know basic principles of multifactorial inheritance and to discuss about multifactorial disease
4   to know basic concepts of linkage, crossing-over and mapping and solves problems.
5   to know developments about prenatal diagnosis, and to discuss to them
6   to define epigenetic mechanisms that play a role in disease development
7   to know and Practices all National/ International/ Professional, Ethic and Legal Regulations in Specified Field

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week Subject Description
1 Single gene diseases
2 Single gene diseases
3 Single gene diseases
4 mythocondrial diseases
5 mythocondrial diseases
6 mythocondrial diseases
7 Trinucleotid expansion syndromes
8 Trinucleotid expansion syndromes
9 Trinucleotid expansion syndromes
10 Multifactoriyal diseases
11 Multifactoriyal diseases
12 Multifactoriyal diseases
13 Ethic - prenatal diagnosis genetic counseling
14 Ethic - prenatal diagnosis genetic counseling
15 Complex genetic diseases

Recomended or Required Reading

Klug WM, Cummings MR: Concepts Altıncı baskıdan Çeviri, Palme, 2002
- Griffiths AJF, Miller JH, Suzuki DT, Lewontin RC, Gelbart WM: "An Introduction to Genetic Analysis" Seventh ed., Freeman, 2000
- Griffiths AJF, Miller JH, Lewontin RC, Gelbart WM: "Modern Genetic Analysis" Second ed., Freeman, 2002
- Nussbaum RL, McInnes RR, Willard HF:"Thompson & Thompson Genetics in Medicine" Sixth ed., Saunders, 2001
- Nussbaum RL, McInnes RR, Willard HF:"Thompson & Thompson Tıbbi Genetik" Altıncı baskıdan Çeviri., Güneş Kitabevi, 2005
Hartl DL, Jones EW: "Essetial Genetics a Genomics Perspective" Third ed., Jones and Bartlett, 2002
Connor M, Ferguson-Smith M: "Essential Medical Genetics" Fifth ed., Blackwell Science, 1997
Gelehrter TD, Collins FS, Ginsburg D:" Principles of Medical genetics" Second ed., Williams & Wilkins, 1998
Gardner EJ, Simmons MJ, Snustad DP: "Principles of Genetics" Eighth ed., Wiley, 1991
Motulskey V: "Human Genetics Problem and Approaches" Third ed., Springer, 1997

Planned Learning Activities and Teaching Methods

Lectures: Basic theoretical concepts will be explained during lectures
Homework: Students will solve to problem based questions about the previous lecture that are given by the course coordinator, and shall be submitted in writing.
Homework Assignments/Presentation: Each student prepare a presentation as his/her choice for a complex genetic disease.

Assessment Methods

SORTING NUMBER SHORT CODE LONG CODE FORMULA
1 PRF PERFORMANCE
2 FIN FINAL EXAM
3 FCG FINAL COURSE GRADE PRF * 0.40 + FIN*0.60
4 RST RESIT
5 FCGR FINAL COURSE GRADE (RESIT) PRF * 0.40 + FCGR*0.60


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

Further Notes About Assessment Methods

None

Assessment Criteria

To be announced.

Language of Instruction

Turkish

Course Policies and Rules

To be announced.

Contact Details for the Lecturer(s)

Tel: 412 4607 e-posta: cigdem.eresen@deu.edu.tr

Office Hours

Tuesday s 13:30-14:30

Work Placement(s)

None

Workload Calculation

Activities Number Time (hours) Total Work Load (hours)
Lectures 15 1 15
Preparations before/after weekly lectures 15 3 45
Preparation for final exam 1 10 10
Preparing Presentations 10 8 80
Final 1 3 3
TOTAL WORKLOAD (hours) 153

Contribution of Learning Outcomes to Programme Outcomes

PO/LOPO.1PO.2PO.3PO.4PO.5PO.6PO.7PO.8PO.9
LO.1234
LO.2234
LO.3234
LO.42345
LO.5234
LO.6234
LO.72

CONTACT INFORMATION
Dokuz Eylül Üniversitesi Cumhuriyet Bulvarı No: 144 35210 Alsancak / İZMİR
Phone: +90(232) 412 12 12 - Fax: +90 (232) 464 81 35

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