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Genotype of the cystic fibrosis population of the Hunter Region of New South Wales |
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| Authors: | RL HENRY LC HETTIARACHCHI P COLLEY C COLLLINS EV O'LOUGHLIN DM COOPER |
| Affiliation: | Department of Paediatrics, University of Newcastle, Newcastle, New South Wales, Australia;Department of Paediatrics, John Hunter Hospital, New South Wales, Australia;Hunter Area Pathology Service, New Lambton Heights, New South Wales, Australia |
| 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 ΔF508 mutation and all except one child had at least one ΔF508 mutation. Discussion : Nearly 80% of the CF genes were the ΔF508 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 ΔF508 gene may be as low as 4-5%. |
| Keywords: | cystic fibrosis ΔF508 mutations newborn screening |