Molecular screening of cystic fibrosis patients.
A method for the direct direction of the delta F508 mutation in the cystic fibrosis gene has been developed and applied to the analysis of over 280 individuals including 104 individuals with cystic fibrosis. This technique allows the rapid analysis of DNA from whole blood, Guthrie card blood spots, and the antenatal diagnosis of cystic fibrosis from chorionic villus biopsy samples. Based on these analyses, the delta F508 mutation is found in 77.88% of cystic fibrosis chromosomes in New Zealand cystic fibrosis patients. Thus this test can be used to establish a direct DNA diagnosis in over 60% of cystic fibrosis patients. Approximately a further 30% are heterozygous for this mutation.
Fellowes
A P
AP
Department of Clinical Biochemistry, Christchurch Hospital.
Murphy
J M
JM
Wesley
A W
AW
Dawson
K P
KP
George
P M
PM
D000483:Alleles; D015193:Chorionic Villi Sampling; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008403:Mass Screening; D009154:Mutation; D009520:New Zealand / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods