Please use this identifier to cite or link to this item:
Titre: Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population
Auteur(s): Sediki, Fatima Zohra
Radoui, Abdelkarim
Cabet, Faiza
Zemani-Fodil, Faouzia
Saidi-Mehtar, Nadhira
Boudjema, Abdallah
Mots-clés: cystic fibrosis
Elucigene CF30 Kit
Date de publication: 1-Jun-2015
Editeur: University of sciences and technology in Oran
Résumé: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Wrongly considered as a European disease, CF is found in Algeria; but the literature data on the clinical profile and the spectrum of CFTR gene mutations are poor. In this study we investigate twenty-four unrelated Algerian families, with at least one child with CF. DNA extracts from blood samples of patients and parents were screened for CFTR gene mutations using Elucigene CF30 Kit which is based on a PCR/ARMS technique. Only five different mutations were identified. On the 48 alleles studied, most com- mon mutations were: c.1521_1523delCTT (F508del) 18.75%, c.579+1G>T (711+1G>T) 12.5%, c.1624G>T (G542X) 10.41%, c.3909C>G (N1303K) 4%, and c.1652G>A (G551D) 2%. The Elucigene CF30 kit highlights a portion of CFTR mutations in the Algerian population. It remains important for a first screening as it reveals the most common mutations. All this information is of interest for genetic testing and genetic counseling in Algeria and in European countries where immigration from the Maghreb is common.
Appears in Collections:Thèses doctorat

Files in This Item:
File Description SizeFormat 
Article_SFZ.pdf196,37 kBAdobe PDFView/Open
THESE_SEDIKI_FZ.pdf8,56 MBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.