Detection of CFTR mutations using PCR/ARMS in a sample of Algerian population

• DOI: 10.1684/abc.2014.0989
• Publication Date: 2019-08-02T13:24:44Z
• Authors: Fatima Zohra Sediki; Abdelkarim Radoui; Faiza Cabet; Faouzia Zemani-Fodil; Nadhira Saidi-Mehtar; Abdallah Boudjema
• Keywords: Male; 0303 health sciences; 03 medical and health sciences; Algeria; DNA Mutational Analysis; Mutation; Cystic Fibrosis Transmembrane Conductance Regulator; Humans; Female; Polymerase Chain Reaction; 3. Good health

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 common 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.