Multiplex genotyping for cystic fibrosis from filter paper blood spots.
Cystic fibrosis is a common disease of the Caucasian population and is associated with significant early mortality. We present a simple and rapid method for cystic fibrosis genotyping from filter paper blood spots, using a currently available commercial genotyping kit. Using multiplex technology, genotype information on the four most common UK mutations can easily be obtained within a single working day. Used in conjunction with current immunoreactive typsinogen screening protocols, blood spot genotyping offers a method of hastening the diagnosis, and thus treatment, of cystic fibrosis.
Poyser
K H
KH
Department of Clinical Biochemistry, King's College Hospital, Denmark Hill, London, UK.
Wyatt
H A
HA
Chambers
S M
SM
D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D004247:DNA / Q000032:analysis / Q000235:genetics*; D019937:Diagnostic Techniques and Procedures; D005838:Genotype; D006801:Humans; D009154:Mutation; D012680:Sensitivity and Specificity; D014362:Trypsinogen
D014362:Trypsinogen; D004247:DNA