COURSE UNIT TITLE

: CYTOGENOMICS

DEGREE PROGRAMMES

Description of Individual Course Units

Course Unit Code Course Unit Title Type Of Course D U L ECTS
TBG 5040 CYTOGENOMICS COMPULSORY 2 4 0 12

Offered By

Medical Biology and Genetics

Level of Course Unit

Second Cycle Programmes (Master's Degree)

Course Coordinator

PROFESSOR DOCTOR OĞUZ ALTUNGÖZ

Offered to

Biomechanics
Molecular Medicine
Medical Biology and Genetics

Course Objective

- To learn the basic cytogenetic concepts and their clinical applications, and to be able to apply basic laboratory procedures.
- To acquire the basic knowledge and ability for recognition of normal human chromosomes and chromosomal aberrations under light microscope.

Learning Outcomes of the Course Unit

1   To be able to explain cell nucleus in terms of structure and function
2   To grasp eukaryotic cell division types in the context of nuclear genome structure and genetic functioning
3   To be able to classify and write chromosomal aberrations according to the nomenclature principles (ISCN)
4   To understand the association of constitutional chromosome anomaly and birth defect (reproductive) risk
5   To understand the association of somatically acquired chromosomal changes with clinical phenotype at categorical level
6   To learn the techniques of molecular cytogenetics (FISH) and their utilization in clinical diagnosis
7   To learn the effects of structural chromosome aberrations at level of gene structure and expression
8   To understand the principles of copy number detection methods such as genomic arrays, MLPA and Q-PCR.
9   To be able to recognize normal human chromosomes at 550 bands resolution under microscope
10   To understand the basic principles of bright field and fluorescence microscopy.

Mode of Delivery

Face -to- Face

Prerequisites and Co-requisites

None

Recomended Optional Programme Components

None

Course Contents

Week Subject Description
1 Presentation of the course program and learning objectives (T) Basic laboratory principles and the policy (P)
2 Functional structure of the cell nucleus (T) Cell culture techniques for preparation metaphase spreads (P)
3 DNA, chromosomes, cell division and its control (T) Preparation of metaphase spreads from peripheral blood (P)
4 Classification of chromosome abnormalities and cytogenetic nomenclature system, ISCN I (T) Basic microscopy.
5 Classification of chromosome abnormalities and cytogenetic nomenclature system, ISCN II (T) Recognition of group A chromosomes (P)
6 Autosomal aneuploidy (T) Recognition of group B chromosomes (P)
7 Parental Translocations and Reproductive Risk (T) Recognition of group C chromosomes (P)
8 MIDTERM EXAM Recognition of group C chromosomes (P)
9 Parental Inversions and Reproductive Risk (T) Recognition of group C chromosomes (P)
10 Sex chromosomes and their aberrations (T) Recognition of group D chromosomes (P)
11 Prenatal and spontaneous abortion cytogenetics (T) Recognition of group E chromosomes (P)
12 Chromosomal changes in hematopoietic neoplasms - Effects at the molecular level - Significance of detection in diagnosis, prognosis and monitoring Recognition of group F and G chromosomes (P)
13 Chromosomal changes in solid tumors (T) - Effects at the molecular level - Significance of detection in diagnosis, prognosis and monitoring FISH Image Analysis (P)
14 Molecular cytogenetics: genomic arrays, MLPA, CGH, SKY-FISH (T) Locus specific probe hybridization and chimeric gene analysis (P)
15 FINAL EXAM

Recomended or Required Reading

1) Gersen SL, Keagle MB (ed.): "The Principles of Clinical Cytogenetics" 2005 Humana Press Inc.
2) Gardner RJM, Sutherland GR: "Chromosome Abnormalities and Genetic Counseling" 2004 2nd ed. Oxford University Press, Inc.
3) Thomson & Thomson Genetics in Medicine, 2016, 8th Edition, Elsevier
4) Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/)
5) Various review articles

Planned Learning Activities and Teaching Methods

Lecture: Theoretical concepts and descriptive information is given as lecturing sessions

Task: Each student is supposed to make a literature search and give a brief presentation on a topic assigned by the instructor.

Laboratory Practice: Practices to recognise human chromosomes on previously prepared slides; to obtain metaphase spreads; chromosome banding and staining; hybridization, post-hybridization washes and detection of FISH slides

Assessment Methods

SORTING NUMBER SHORT CODE LONG CODE FORMULA
1 MTE MIDTERM EXAM
2 PRF PERFORMANCE
3 FIN FINAL EXAM
4 FCGR FINAL COURSE GRADE MTE * 0.30 + PRF* 0.30 + FIN* 0.40
5 RST RESIT
6 FCGR FINAL COURSE GRADE (RESIT) MTE * 0.30 + PRF* 0.30 + RST* 0.40


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

Further Notes About Assessment Methods

LO 1 LO 8 are assessed by assay type midterm and final exams and task performances.
LO 9 and LO 10 are assessed by performance during each practice session and a laboratory exam

Assessment Criteria

To be announced.

Language of Instruction

Turkish

Course Policies and Rules

Lectures are carried out in an interactive manner which means that students are expected to contribute to lectures actively. In this respect, students should study previously covered topics before each lecture session.

Contact Details for the Lecturer(s)

412 4605 GSM: 505 635 34 35 E-mail: oguz.altungoz@deu.edu.tr

Office Hours

Two hours for each week

Work Placement(s)

None

Workload Calculation

Activities Number Time (hours) Total Work Load (hours)
Lectures 15 5 75
Tutorials 15 5 75
Preparation before/after weekly lectures 15 7 105
Preparation for midterm exam 1 5 5
Preparation for final exam 1 5 5
Preparing presentations 1 5 5
Final 1 15 15
Midterm 1 15 15
TOTAL WORKLOAD (hours) 300

Contribution of Learning Outcomes to Programme Outcomes

PO/LOPO.1PO.2PO.3PO.4PO.5PO.6PO.7PO.8PO.9
LO.1432
LO.2333
LO.334
LO.443
LO.543
LO.63342
LO.743
LO.833
LO.923224
LO.10234

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

Copyright 2015 DEÜ. BİD

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