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Investigation of Conotruncal Anomalies by Array-CGH (Comparative Genome Hybridization)
Turkey (TurkMSIC) - Namik Kemal University, Tekirdag
Department of Genetics, Namik Kemal University, TURKEY
Assist. Prof. Dr. Hatip Aydin
Prof. Dr. Hatip Aydin
Type of Research Project
- Basic science
What is the background of the project?
Conotruncal heart malformations include tetralogy of Fallot, absence of the pulmonary valve, double-outlet right ventricle, truncus arteriosus communis,pulmonary atresia with ventricular septal defect, transposition of the great arteries and aortic arch anomalies. They account for between one fourth and one third of all non syndromic congenital heart defects. Conotruncal heart anomalies are known to be associated with structural and submicroscopic chromosomal abnormalities. In previous studies, microdeletions of 22q11.2 are found (by fluorescent in situhybridization, FISH) in 30% of cases of isolated conotruncal anomalies. However, in those negative for del22q11.2 on FISH, the etiology is usually obscure. We aim to find new candidate genes in order to be able to provide new correlations between genotypes and phenotypes, but also define new gene functions and locate unknown genes with the obtained results. While observing to approximately 5Mb of variation by classic cytogenetic methods, more particular genomic analysis can be done by FISH (Fluorescence in Situ Hybridization) and other molecular cytogenetic methods like CGH (Comparative Genome Hybridization) and karyotyping.
What is the aim of the project?
What techniques and methods are used?
What is the role of the student?
- The student will mainly observe
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
He/She must be a clinical student.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students
- -Di George Syndrome and 22qll Rearrangements (Hum Genet (1986) 74:206)
- -Frequency of 22q11 Deletions in Patients With Conotruncal Defects(JACC Vol. 32;No.2 August 1998:492-8)
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