Screening for common CFTR mutations in Palestinian cystic fibrosis patients
Other Title(s)
الكشف عن الطفرات الشائعة لمرض التليف الكيسي في فلسطين
Dissertant
Thesis advisor
University
Islamic University
Faculty
Faculty of Science
Department
Department of Biological Science
University Country
Palestine (Gaza Strip)
Degree
Master
Degree Date
2017
English Abstract
Problem: Cystic Fibrosis (CF) is a severe life threatening inherited disease characterized by dysfunction of the exocrine glands.
The disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene the product of which is responsible for the transport of chloride ions across the membranes of epithelial cells.
In Palestine, mutations in CFTR gene are not fully identified.
Objectives: The present study aims to identify the common CFTR mutations in Gaza Strip.
Methodology: This study was performed on blood genomic DNA samples from 30 patients (18 males and 12 females) residing in Gaza who were clinically diagnosed with cystic fibrosis.
Several polymerase chain reaction (PCR) techniques such as the amplification refractory mutation system (ARMS), tetra-primer ARMS-PCR and restriction fragment length polymorphism (RFLP-PCR) were applied to examine the following mutations: 508delF, W1282X, 3120+1kb, S549R, 1548delG, I1234V, 711+1G, G115X, 4010del4 and H139L.
Results: Of the 60 studied alleles, four mutations were detected.
The most common mutations were: 508delF and G115X (6.67% each), followed by W1282X (5%) and 3120+1kb (1.67%).
Conclusions & Recommendations: Identification of CFTR mutations in the Palestinian CF population is necessary to set up feasible molecular diagnostics, genetic counseling and patient management.
Main Subjects
No. of Pages
59
Table of Contents
Table of contents.
Abstract.
Abstract in Arabic.
Chapter One : Introduction.
Chapter Two : Literature review.
Chapter Three : Materials and methods.
Chapter Four : Results.
Chapter Five : Discussion.
Chapter Six : Conclusion and recommendations.
References.
American Psychological Association (APA)
Azzarah, Ayat Naim Ismail. (2017). Screening for common CFTR mutations in Palestinian cystic fibrosis patients. (Master's theses Theses and Dissertations Master). Islamic University, Palestine (Gaza Strip)
https://search.emarefa.net/detail/BIM-902793
Modern Language Association (MLA)
Azzarah, Ayat Naim Ismail. Screening for common CFTR mutations in Palestinian cystic fibrosis patients. (Master's theses Theses and Dissertations Master). Islamic University. (2017).
https://search.emarefa.net/detail/BIM-902793
American Medical Association (AMA)
Azzarah, Ayat Naim Ismail. (2017). Screening for common CFTR mutations in Palestinian cystic fibrosis patients. (Master's theses Theses and Dissertations Master). Islamic University, Palestine (Gaza Strip)
https://search.emarefa.net/detail/BIM-902793
Language
English
Data Type
Arab Theses
Record ID
BIM-902793
