Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

Abstract Background Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic transmembrane conductance regulator ( CFTR ) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence genotyping CF are under-identified Iraq. This study aims to determine types frequencies certain among a sample Iraqi patients. Two groups patients were included: 31 clinically confirmed addition 47 suspected CF. All had typical, moderate-severe clinical presentation course disease. Molecular analysis was performed on majority enrolled using CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria. Results The mutation-detection rate tested 34 19.5% 8 detected as follows: 3120+1G>A W1282X found 3 (4.17%) each; F508del R1162X 2 (2.78%) 3272-26A>G, R347P, I507del, 2183AA>G 1 (1.38%) patient each. Polymorphic variants IVS8, namely 5T, 7T, 9T, ~ 70%. These nearly similar what regional countries. Conclusion seems be not rare previously thought. two most commonly mutations. needs included all future tests, while I507del mutation uniquely but studies.