Open AccessCFTR gene mutations in children with severe asthma
Author(s) -
В. С. Тихонова,
A N Voytovich,
A.V. Kamaev,
Т. Э. Иващенко,
А. В. Орлов,
Л. А. Желенина,
Д. С. Коростовцев,
В. И. Ларионова,
В. С. Тихонова,
А. Н. Войтович,
A.V. Kamaev,
T. E. Ivaschenko,
А. В. Орлов,
Л. А. Желенина,
D S Korostovsev,
В. И. Ларионова
Publication year - 2011
Publication title -
rossijskij allergologičeskij žurnal
Language(s) - English
Resource type - Journals
eISSN - 2686-682X
pISSN - 1810-8830
DOI - 10.36691/rja783
Subject(s) - cystic fibrosis , cystic fibrosis transmembrane conductance regulator , genotype , asthma , medicine , mutation , pediatrics , gene , gene mutation , gastroenterology , genetics , biology
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.