Журнал генетических расстройств и генетических отчетов

Spectrum of CFTR Mutations in the Algerian Population: Molecular and Computational Analysis

Fatima Zohra Sediki, Abdelkarim Radoui, Abdallah Boudjema, Meriem Abdi, Faouzia Zemani-Fodil, Nadhira Saidi-Mehtar and Faiza Cabet

Little has been reported on the occurrence of cystic fibrosis in Algerian population. In order to contribute to the few existing data we undertook this study. The aim was in first instance to detect genetics alteration in the CFTR gene of 21 CF Algerian patients by sequencing. 14 different mutations were detected one of them
has never been described. Among these mutations the c.680T>G (L227R) which seems to be specific to the Algerian population, it was in silico studied to determine its impact at a molecular level. This is the first study that combined a molecular and computational analysis. These findings will assist in genetic counseling, prenatal diagnosis and future screening of CF in Algeria.