title: A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: genotype-phenotype correlations, relevance for newborn screening and genetic testing.
abstract: We present the first comprehensive report on the distribution and genotype-phenotype correlations of CF-causing mutations in Western Ukraine (former Galicia). The 2184insA mutation was identified in 17 unrelated CF patients, 2 of whom are homozygotes for this allele. This mutation is associated with the classical form of CF. The high frequency of 2184insA mutation (7.20% of all mutated CF chromosomes) suggests that it is likely of Galician origin, from where it has spread throughout Europe and beyond. The achieved 83.71% mutation detection rate fulfills the minimal pre-requisite for introduction of the "two-tier" (IRT/DNA) newborn screening program.
authors.affiliation: Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences, Lviv, Ukraine.
authors.forename: Halyna
authors.initials: H
authors.lastname: Makukh
authors.forename: Petra
authors.initials: P
authors.lastname: Krenková
authors.forename: Marta
authors.initials: M
authors.lastname: Tyrkus
authors.forename: Lyudmyla
authors.initials: L
authors.lastname: Bober
authors.forename: Miroslava
authors.initials: M
authors.lastname: Hancárová
authors.forename: Oleh
authors.initials: O
authors.lastname: Hnateyko
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D014455:Ukraine
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator