title: Genotype of the cystic fibrosis population of the Hunter Region of New South Wales.
abstract: OBJECTIVE
  To determine the genotype of patients attending the cystic fibrosis clinic at John Hunter Hospital, Newcastle, Australia.
  
  
  METHODS
  Seventy-five of the 76 patients attending the clinic over a 6 month period had blood collected for genetic analysis of 17 of the cystic fibrosis (CF) gene mutations.
  
  
  RESULTS
  Sixty-one per cent of the patients were homozygous for the delta F508 mutation and all except one child had at least one delta F508 mutation.
  
  
  CONCLUSIONS
  Nearly 80% of the CF genes were the delta F508 mutation. This prevalence suggests that the obligatory false negative rate of a newborn screening programme for CF based on a combination of immunoreactive trypsin and the delta F508 gene may be as low as 4-5%.
authors.affiliation: Department of Paediatrics, University of Newcastle, New South Wales, Australia.
authors.forename: R L
authors.initials: RL
authors.lastname: Henry
authors.forename: L C
authors.initials: LC
authors.lastname: Hettiarachchi
authors.forename: P
authors.initials: P
authors.lastname: Colley
authors.forename: C
authors.initials: C
authors.lastname: Collins
authors.forename: E V
authors.initials: EV
authors.lastname: O'Loughlin
authors.forename: D M
authors.initials: DM
authors.lastname: Cooper
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000706:statistics & numerical data; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods; D009517:New South Wales
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator