title: Neonatal screening for the cystic fibrosis main mutation delta F508 in Estonia.
abstract: In this pilot study the frequency of delta F508 mutation carriers, their geographic distribution, and the prevalence of cystic fibrosis (CF) in Estonia were investigated. During the screening programme 7396 newborns were tested for delta F508 mutation and 88 were found to carry this deletion. The mean frequency of delta F508 mutation carriers in Estonia was thus estimated as 1 out of 84 live births. In eight separate districts of Estonia the heterozygote frequencies differed significantly (p = 0.0369), with the highest incidence (1:36) on the Baltic Sea islands and western coastal region and with the lowest in south eastern parts of Estonia.
authors.affiliation: Institute of Molecular and Cell Biology, Tartu University, Estonian Biocentre, Estonia.
authors.forename: T
authors.initials: T
authors.lastname: Klaassen
authors.forename: M
authors.initials: M
authors.lastname: Teder
authors.forename: M
authors.initials: M
authors.lastname: Viikmaa
authors.forename: A
authors.initials: A
authors.lastname: Metspalu
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004957:Estonia / Q000453:epidemiology; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D010865:Pilot Projects; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator