title: The Irish cystic fibrosis database.
abstract: We have found records of 1014 Irish cystic fibrosis patients alive by December 1994, belonging to 883 families. Prevalence in the population is 1/3475 and incidence at birth 1/1461, with a gene frequency of 2.6%. Twenty percent of the patients are aged over 20 years, but at present survival rate falls rapidly after that age. We have identified 85% of the mutations on the CFTR gene in a sample of 29% of the families (506 CF chromosomes). Mutation delta F508 is found in 72% of Irish CF chromosomes, G551D in 6.9%, and R117H in 2%. These are the highest frequencies reported for the latter two mutations world wide. Another seven mutations are found in an additional 4% of CF families. We present new microsatellite haplotype data that could be useful for genetic counselling of CF families bearing some of the 15% of CF mutations still unidentified, and comment on possible uses of our database.
authors.affiliation: Department of Genetics, Trinity College, Dublin, Ireland.
authors.forename: S M
authors.initials: SM
authors.lastname: Cashman
authors.forename: A
authors.initials: A
authors.lastname: Patino
authors.forename: M G
authors.initials: MG
authors.lastname: Delgado
authors.forename: L
authors.initials: L
authors.lastname: Byrne
authors.forename: B
authors.initials: B
authors.lastname: Denham
authors.forename: M
authors.initials: M
authors.lastname: De Arce
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D016208:Databases, Factual; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007494:Ireland; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator