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

作者信息

Henry R L, Hettiarachchi L C, Colley P, Collins C, O'Loughlin E V, Cooper D M

机构信息

Department of Paediatrics, University of Newcastle, New South Wales, Australia.

出版信息

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

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%.