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Genotype of the cystic fibrosis population of the Hunter Region of New South Wales
Author(s) -
HENRY RL,
HETTIARACHCHI LC,
COLLEY P,
COLLLINS C,
O'LOUGHLIN EV,
COOPER DM
Publication year - 1996
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1996.tb00941.x
Subject(s) - medicine , cystic fibrosis , genotype , population , genetics , environmental health , gene , biology
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%.