EFFECT OF MUTATIONS IN THE CFTR GENE ON COURSE OF CYSTIC FIBROSIS IN CHILDREN


Cite item

Full Text

Abstract

The genetic study performed in 132 patients with cystic fibrosis. We surveyed patients with cystic fibrosis the most frequent mutation F508del (83,3 %), CFTRdele2,3(21kb) (7,6 %). For carriers of the mutation F508del homo- or heterozygous state, characterized by the predominance of mixed forms, as well as rapid progression of bronchopulmonary process, frequent and early infection with gram-negative flora and the formation of severe liver disease. In patients with mild genotype disease is more favorable than in patients with severemutations.

References

  1. Капранов Н.И., Каширская Н.Ю., Воронкова А.Ю. Муковисцидоз: современные достижения и актуальные проблемы. М., 2008. С.104.
  2. Петрова Н.В. Анализ частоты некоторых мутаций в гене CFTR в разных популяциях России // Медицинсая генетика. 2006. № 2. С. 32-9.
  3. Тимковская Е.Е. Анализ некоторых мутаций генов частых наследственных болезней в популяциях России // Медицинская генетика. 2005. Т.4. № 6. С. 275.
  4. Cystic fibrosis genotype-phenotype consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. Engl J Med 1993;329:1308.
  5. Cutting GR. Genotype defect: its effect on cellular function and phenotypic expression. Am J Respir Crit Care Med 1994;15:356-63.
  6. Davies J. Cystic fibrosis modifier genes. Review. J R Soc Med 2005;98:47-54.
  7. De Gracia, Mata JF, Alvarez A, et al.Genotype-phenotype correlation for pulmonary function in cystic fibrosis. Thorax 2005;60:558-63.
  8. Salvatore F, Scudiero O, Castaldo G. Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes. Am J Med Genet 2002;111:88-95.
  9. Wine JJ. The genesis of cystic fibrosis lung disease. J Clinical Inv 1999;103:309-12.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies