Genotype of the cystic fibrosis population of the Hunter Region of New South Wales.
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%.
Henry
R L
RL
Department of Paediatrics, University of Newcastle, New South Wales, Australia.
Hettiarachchi
L C
LC
Colley
P
P
Collins
C
C
O'Loughlin
E V
EV
Cooper
D M
DM
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator