CFTR gene mutations in children with severe asthma



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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.

About the authors

V S Tikhonova

Email: valeri.ss@yandex.ru

A N Voytovich

A V Kamaev

T E Ivashchenko

A V Orlov

L A Zhelenina

D S Korostovtsev

V I Larionova

V S Tikhonova

Saint-Petersburg State Pediatric Medical Academy

Saint-Petersburg State Pediatric Medical Academy

A N Voitovich

Saint-Petersburg State Pediatric Medical Academy

Saint-Petersburg State Pediatric Medical Academy

A V Kamaev

Saint-Petersburg State Pediatric Medical Academy

Saint-Petersburg State Pediatric Medical Academy

T E Ivaschenko

Ott's Institute of Obstetrics & Gynecology

Ott's Institute of Obstetrics & Gynecology

A V Orlov

St. Olga Children's Municipal Clinical Hospital

St. Olga Children's Municipal Clinical Hospital

L A Zhelenina

Saint-Petersburg State Pediatric Medical Academy

Saint-Petersburg State Pediatric Medical Academy

D S Korostovsev

Saint-Petersburg State Pediatric Medical Academy

Saint-Petersburg State Pediatric Medical Academy

V I Larionova

Saint-Petersburg State Pediatric Medical Academy

Saint-Petersburg State Pediatric Medical Academy

References

  1. Чучалин А.Г. Тяжелая бронхиальная астма. Рус. мед. журн. 2000, т. 8, № 12, с. 482-486.
  2. Wenzel S. Mechanisms of severe asthma. Clin. Exp. Allergy. 2003, v. 33, No. 12, p. 1622-1628.
  3. Огородова Л.М. Тяжелая бронхиальная астма у детей. Consilium medicum. 2001 (Приложение), с. 25-33.
  4. Andersen D.H. Cystic fibrosis of the pancreas and its relation to celiac disease. Am. J. Dis. Child. 1938, v. 56, p. 344-399.
  5. Пац Л.И. Бронхиальная астма и муковисцидоз у детей. Вопр. охр. мат. 1967, № 9, с. 81.
  6. Городецкая Э.Г., ГудзенкоЖ.П. Муковисцидоз и хроническая неспецифическая пневмония у детей. Педиатрия. 1967, № 12, с. 24-28.
  7. Кронина Л.А. Бронхиальная астма и муковисцидоз: состояние проблемы. В кн.: Бронхиальная астма. Под ред. А.Г. Чучалина. М., «Агар». 1997, т. 1, с. 182-186.
  8. Каширская Н.Ю., Капранов Н.И., Толстова В.Д. и соавт. Особенности бронхообструктивного синдрома при муковисцидозе - этиопатогенез и терапия. РМЖ (Пульмонология). 2007, № 4, с. 1-7.
  9. CFTR mutation database, http://www.genet.sickkids.on.ca/cftr/ <http://wwwgenet.sickkids.on.ca/cftr/>.
  10. Капранов Н.И. Муковисцидоз - современное состояние проблемы. Пульмонология. (Приложение). 2006, с. 5-11.
  11. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. Journal of Cystic Fibrosis. 2008, v. 7, No. 3, p. 179-196.
  12. Garry R. Cutting Genetic Epidemiology and Genotype/ Phenotype Correlations. Abstracts NIH Consensus Development Conference «Genetic testing for Cystic Fibrosis». Kensington. 1997, p. 19-23.
  13. Петрова Н.В. Молекулярно-генетические и клинико-генотипические особенности муковисцидоза в российских популяциях. Автореф. диссертации д-ра мед. наук. М., 2009. 42 с.
  14. Капранов Н.И., Каширская Н.Ю., Петрова Н.В. Муковисцидоз. Достижения и проблемы на современном этапе. Мед. генетика. 2004, № 9, с. 398-412.
  15. Boucher R.C. New concepts of the pathogenesis of cystic fibrosis lung disease. Eur. Respir. J. 2004, v. 23, p. 146-158.
  16. Келембет Н.А., Гембицкая Т.Е., Иващенко Т.Э. и соавт. Значение некоторых генов-модификаторов в клиническом течении и исходах муковисцидоза. Пульмонология. (Приложение). 2006, с. 57-60.
  17. [GINA, 2010] Global Initiative for asthma. Global Strategy for asthma management and prevention 2010. http//www. <ginasthma.com>. 119 p.
  18. Национальная программа «Бронхиальная астма у детей. Стратегия лечения и профилактика». М., 2008, 46 с.
  19. Blin N., Stafford D.W. Ageneral method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids. Res. 1976, v. 3, p. 2303-2308.
  20. Munthe-Kaas M.C., Lodrup-Carlsen K.C., Carlsen K.H. et al. CFTR gene mutations and asthma in the Norwegian Environment and Childhood Asthma study. Respir. Med. 2006, v. 100, p. 2121-2128.
  21. De Cid.R., Chomel J.C., Lazaro С. et al. CFTR and asthma in the French EGEA study. Eur. J. Hum. Genet. 2001, v. 9, p. 67-69.
  22. Castellani C., Quinzii C., Altieri S. et al. A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes. Genet. Test. 2001, v. 5, p. 249-254.
  23. Hakonarson H., Bjornsdottir U.S., Ostermann E. et al. Allelic frequencies and patterns of ingle-nucleotide polymorphisms in candidate genes for asthma and atopy in Iceland. Am. J. Respir. Care Med. 2001, v. 164, p. 2036-2044.
  24. Kyung Won Kim, Ji Hyun Lee, Min Goo Lee et al. Association between Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations and Susceptibility for Childhood Asthma in Korea. Yonsei Med. J. 2010, v. 51, № 6, p. 912-917.
  25. Tzetis M., Efthymiadou A., Strofalis S. et al. CFTR gene mutations-including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum. Genet., 2001, v. 108, p. 216-221.
  26. Lazaro C., de Cid R., Sunyer J. et al. Missense mutations in the cystic fibrosis gene in adult patients with asthma. Hum. Mutat, 1999, v. 14, p. 510-519.
  27. Dahl M., Tybjaerg-Hansen A., Lange P., Nordestgaard B.G. DeltaF508 heterozygosity in cystic fibrosis and susceptibility to asthma. Lancet. 1998, v. 351, p. 1911-1913

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