title: A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory.
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.
authors.affiliation: Department of Laboratory Medicine, University of California, San Francisco 94143-0134, USA.
authors.forename: J
authors.initials: J
authors.lastname: Wall
authors.forename: S
authors.initials: S
authors.lastname: Cai
authors.forename: F F
authors.initials: FF
authors.lastname: Chehab
mesh_terms: D000483:Alleles; D001483:Base Sequence; D019411:Clinical Laboratory Techniques; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D015342:DNA Probes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D015342:DNA Probes