Genotype of the cystic fibrosis population of the Hunter Region of New South Wales

J Paediatr Child Health. 1996 Oct;32(5):416-8. doi: 10.1111/j.1440-1754.1996.tb00941.x.

Abstract

Objective: To determine the genotype of patients attending the cystic fibrosis clinic at John Hunter Hospital, Newcastle, Australia.

Methodology: 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.

Discussion: 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%.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • DNA Mutational Analysis / statistics & numerical data
  • Female
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening / methods
  • New South Wales

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator