A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory
- 1 January 1995
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 5 (4) , 333-338
- https://doi.org/10.1002/humu.1380050411
Abstract
We devised a set of allele-specific probes to detect simultaneously 31 known cystic fibrosis mutations using PCR and the reverse dot blot detection format. The assay has been implemented in a clinical setting to the screening of over 750 individuals. Of these 102 Caucasians, 20 Hispanics and 1 Indian patient were affected with cystic fibrosis. The mutation detection rate in the 204 Caucasian and 40 Hispanic CF chromosomes was respectively, 88% and 85%. The availability of the probe sequences to CF screening laboratories should allow implementation of this assay in a clinical setting and comparison of its mutation typing rate among different centers.Keywords
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