CFTR gene mutations in children with severe asthma

Background. To detect sixteen cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations most commonto Russian populations in children with severe asthma (SA).Patients and Methods. S A group included 59 children aged 4-17 years old (43 boys and 16 girls). Cystic fibrosis (CF) groupincluded 27 children aged 5-17 years old with a primary diagnosis of CF (15 boys and 12 girls). We used two kits developedby Center for M olecular Genetics (Moscow): «CF-5» kit (G542X, W1282X, N1303K, 3849+10kbC>T, R334W) and «CF-11»kit (del21 kb, F508del, I 507del, 1677delTA, 2143delT, 2184insA, 394delTT, 3821delT, L138ins, 604insA, 3944delTG).Results. I n the group of children with CF, the frequency a major mutation F508del was 85% (41% with genotype F508del/F508del, 29% with genotype F508del/nomal and 15% with compound genotype F508del/others). I n 15% of the cases, therewere identified some other mutations of the CFTR gene: N1303K, 394delTT, 2143delT, CFTRdele2, 3 (21kb). The rest 7% ofthe cases were not clarified. We have found neither «mild» nor «severe» the mutations of CFTR gene in the S A group.Conclusion. This study failed to show an association of mutations of CFTR gene with severe asthma in children.