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Journal of Applied Genetics 48(1), 2007, pp. 85-88

Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

Urszula Skrzypczak, Ewa Rutkiewicz, Andrzej Pogorzelski, Michal Witt, Ewa Zietkiewicz

Abstract: We screened a large group of primary ciliary dyskinesia/Kartagener syndrome (PCD/KS) patients and their siblings (148 patients from 126 unrelated families) for the presence of the CFTR mutations that are most frequently found in the Polish population: the severe F508del and 2,3del21kb, and the mild 3849+10kbC > T. No statistically significant increase in the frequency of these mutations was found in the studied group, as compared with the general population. This is consistent with an earlier observation in another population and indicates that the status of being a carrier of any of these CFTR mutations should not be considered as an important risk factor in PCD/KS pathogenesis.

Key words: cilia, cystic fibrosis, primary ciliary dyskinesia.

Correspondence: E. Zietkiewicz, Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland; e-mail:

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