title: [Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland].
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.
authors.affiliation: Department of Genetics and Genomic Biology, Hospital for Sick Children, Toronto.
authors.forename: I
authors.initials: I
authors.lastname: Aznarez
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: N
authors.initials: N
authors.lastname: Moral
authors.forename: D
authors.initials: D
authors.lastname: Sands
authors.forename: V
authors.initials: V
authors.lastname: Nunes
authors.forename: A
authors.initials: A
authors.lastname: Sobczyńska-Tomaszewska
authors.forename: L C
authors.initials: LC
authors.lastname: Tsui
authors.forename: J
authors.initials: J
authors.lastname: Zielenski
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000302:isolation & purification; D005787:Gene Frequency; D005820:Genetic Testing; D005828:Genetics, Population; D006801:Humans; D009154:Mutation; D011044:Poland; D011110:Polymorphism, Genetic
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA