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

Abstract Objective Asthma 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 methods The present work concerns a study, for the first time in Tunisia, of the genotypic and allelic distribution of IVS8 TG m T n repeat motifs in intron 8 of the CFTR gene in an asthmatic population. TG m T n repeat analysis was performed for 100 asthmatic subjects and 103 controls using a sequencing technique. Results The results showed the predominance of the T 7 allele in both patients and controls, as for the TG 11 allele, which represents the major allele of the two groups studied. Our results also showed a significant difference in distribution of the TG 12 allele. In addition, a haplotype study showed predominance of the TG 11 T 7 haplotype in both groups, which is in agreement with the data in the literature. Conclusion Our 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.