Identification of the cystic fibrosis mutation R334W in a libyan family

Abstract

Since the discovery in 1989 of the gene responsible for cystic fibrosis, more than 1800 mutations have been identified. We report in this work the identification of an uncommon cystic fibrosis mutation R334W in a Libyan family.  Our study involved a patient originally from Libya suspected of cystic fibrosis having a positive sweat test by pilocarpine iontophoresis (technical Exsudose). The full scan of the coding sequences and intron-exon junctions of the gene was the strategy adopted for the identification of mutations causing cystic fibrosis by gel denaturing gradient gel electrophoresis and denaturing high performance liquid chromatography. Molecular analysis established in our patient, allowed us to identify for the first time in the Libyan population the rare mutation R334W localized in exon The family study showed that both parents and her brother and sister are healthy carriers of this mutation. Until today, 4 cystic fibrosis mutations were only identified in Libya, the results obtained in this work have expanded epidemiological data in the Libyan population which has cystic fibrosis was long considered as exceptional.