Analysis of IVS8 CFTR gene polymorphism in asthmatic children in a Tunisian population

Abstract

ObjectiveAsthma is a multifactorial disease of genetic origin; its clinical expression depends largely on acquired factors, often related to the environment. It is defined as a chronic inflammatory condition of the airways with mucus obstruction, a feature it shares with cystic fibrosis (CF). Material and methodsThe present work concerns a study, for the first time in Tunisia, of the genotypic and allelic distribution of IVS8 TGmTn repeat motifs in intron 8 of the CFTR gene in an asthmatic population. TGmTn repeat analysis was performed for 100 asthmatic subjects and 103 controls using a sequencing technique. ResultsThe results showed the predominance of the T7 allele in both patients and controls, as for the TG11 allele, which represents the major allele of the two groups studied. Our results also showed a significant difference in distribution of the TG12 allele. In addition, a haplotype study showed predominance of the TG11T7 haplotype in both groups, which is in agreement with the data in the literature. ConclusionOur study is one of the first to be carried out in the Tunisian asthmatic population. The results obtained will provide a better understanding of the molecular basis of this multifactorial disease.