title: Cystic fibrosis mutation frequencies in an Irish population.
abstract: The incidence of cystic fibrosis (CF) at birth in Ireland is 1/1461. Neonate CF genetic testing is not routinely performed in Ireland. Currently, screening is only carried out where there is clinical evidence or a family history to suggest disease. Here we report the frequencies of common CF mutations occurring in an Irish population composed of samples collected from western, mid-western and southern regions of Ireland. Rarer CF mutations were also identified in a selected number of CF patients. In addition, a number of polymorphisms were identified, some of which are reported to be functionally and phenotypically important.
authors.affiliation: National Diagnostics Center, BioResearch Ireland, National University of Ireland, Galway, Republic of Ireland. jdevaney@rcsi.ie
authors.forename: J
authors.initials: J
authors.lastname: Devaney
authors.forename: M
authors.initials: M
authors.lastname: Glennon
authors.forename: G
authors.initials: G
authors.lastname: Farrell
authors.forename: M
authors.initials: M
authors.lastname: Ruttledge
authors.forename: T
authors.initials: T
authors.lastname: Smith
authors.forename: J A
authors.initials: JA
authors.lastname: Houghton
authors.forename: M
authors.initials: M
authors.lastname: Maher
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D011110:Polymorphism, Genetic
chemical_list: C505032:CFTR protein, human; D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator