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

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. (C) 2019 Published by Elsevier Masson SAS.