Background. To detect sixteen cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations most common
to 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) group
included 27 children aged 5-17 years old with a primary diagnosis of CF (15 boys and 12 girls). We used two kits developed
by 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, there
were identified some other mutations of the CFTR gene: N1303K, 394delTT, 2143delT, CFTRdele2, 3 (21kb). The rest 7% of
the 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.
Su1450 – Chronic Pancreatitis Associated with Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations – a Comparison of Heterozygotes and Compound Heterozygotes
