title: Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype.
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.
authors.affiliation: Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Skrzypczak
authors.forename: Ewa
authors.initials: E
authors.lastname: Rutkiewicz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Pogorzelski
authors.forename: Michał
authors.initials: M
authors.lastname: Witt
authors.forename: Ewa
authors.initials: E
authors.lastname: Zietkiewicz
mesh_terms: D056444:Axonemal Dyneins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D004398:Dyneins / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007619:Kartagener Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011044:Poland; D020641:Polymorphism, Single Nucleotide
chemical_list: C505032:CFTR protein, human; C425071:DNAI1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D056444:Axonemal Dyneins; C497507:DNAH5 protein, human; D004398:Dyneins