Analiza mutacji w genie CFTR u pacjentów z rozpoznana mukowiscydoza w Polsce.

Translated title of the contribution: Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland

I. Aznarez, J. Bal, T. Casals, X. Estivill, N. Moral, D. Sands, V. Nunes, A. Sobczyńska-Tomaszewska, L. C. Tsui, J. Zielenski

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Polish CF patients were screened extensively for mutations in the CFTR gene. Screening data demonstrated a high heterogeneity of CFTR mutations in the Polish population. Total 30 different mutations were characterised in 24 exons or introns of the gene. Among them, six mutations have been reported for the first time and submitted to the CF Genetic Analysis Consortium. In addition, 15 different polymorphisms were found, including three new ones. The screening resulted in 9% increase of the detection rate of CFTR alleles in the tested population. Frequencies of two of the identified mutations (CFTRdele2,3 and 2184insA) are relatively high (2.6% and 1%, respectively) and justify their inclusion into routinely screened mutations in genetic testing of Polish CF population.

Original languagePolish
Pages (from-to)149-159
Number of pages11
JournalMedycyna wieku rozwojowego
Volume4
Issue number2
StatePublished - Jan 1 2000

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Aznarez, I., Bal, J., Casals, T., Estivill, X., Moral, N., Sands, D., Nunes, V., Sobczyńska-Tomaszewska, A., Tsui, L. C., & Zielenski, J. (2000). Analiza mutacji w genie CFTR u pacjentów z rozpoznana mukowiscydoza w Polsce. Medycyna wieku rozwojowego, 4(2), 149-159.