In:
Russian Journal of Allergy, Farmarus Print Media, Vol. 8, No. 6 ( 2011-12-15), p. 24-27
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2686-682X
,
1810-8830
Language:
Unknown
Publisher:
Farmarus Print Media
Publication Date:
2011
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