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Screening of NKX2-5, GATA4, and TBX5 mutations in Congenital Heart Disease in Qalubeya.
Egypt (IFMSA-Egypt) - Benha Faculty of medicine, Benha
Clinical and chemical pathology department, Benha University hospital, Benha, Qalubeya, Egypt.
Prof. Sohir Abdelrahman
Dr. Eman Gamal Behiry
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Congenital heart disease (CHD) is a disorder resulting from abnormal embryonic and fetal development which lead to structural malformation of heart and great vessels. Congenital heart diseases are the most common type of all birth defects and account for nearly 30% of all major congenital anomalies leading to mortality in the first year of life. NKX2-5, GATA4, and TBX5 are of the cardiac transcription factors. They belong to a family of closely related zinc finger transcription factor expressed in earliest stages of cardiogenesis. They are essential for the formation of the proepicardium, epicardium and myocardium. Several studies from different countries have established the association of GATA4 mutations with many isolated or non-isolated cardiac septal defects.
What is the aim of the project?
The aim of this work is to detect the correlation between the NKX2-5, GATA4, and TBX5 mutations gene and septation defects in CHD patients in Kalyoubeya governorate. - praising any genotype-phenotype relationship by using direct sequencing technique that mutation can be detected early in patients that need early intervention.
What techniques and methods are used?
The study pattern is prospective for cases and control groups. Subjects under study will be classified into the following groups: Group (a): apparently healthy persons will be collected as control group. Group (b): patients with septation defects (either atrial septal defect “ASD”, Ventricular septal defect “VSD”, atrioventricular septal defect “AVSD” or tetralogy of Fallot “TOF”) will be selected from patients attending the department of pediatrics, Benha university Hospital after exclusion of syndromic cases. - All subjects will be assessed by: Detailed family history. Complete general examination. Full clinical examination: heart, chest, neurological and abdominal examination. Radiological studies: Chest x-ray, Electrocardiogram (ECG) and two dimensional transthoracic echocardiography with color flow Doppler. - DNA isolation and sequencing.
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
What are the tasks expected to be accomplished by the student?
Observation of the lab work: DNA isolation and sequencing.in the following steps: 1- DNA extraction 2- reverse transcription 3- DNA amplification 4- DNA detection - Statistical analysis will be carried out using SPP 18.0 software.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
There will be lectures provided by the tutor.
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 have the opportunity to present the results together with the supervisor at a conference
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
to be oriented about the basics of statistical analysis.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months)
- Garg; Vidu; et al. "GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5." Nature 424.6947 (2003): 443-447.
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