Browsing by Author "Cabet, Faiza"

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Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population
(University of sciences and technology in Oran, 2015-06-01) Sediki, Fatima Zohra; Radoui, Abdelkarim; Cabet, Faiza; Zemani-Fodil, Faouzia; Saidi-Mehtar, Nadhira; Boudjema, Abdallah
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.