title: Introduction to PCR/OLA/SCS, a multiplex DNA test, and its application to cystic fibrosis.
abstract: The field of medical, molecular diagnostics has grown rapidly over the last few years, becoming increasingly informative to both clinician and patient. As genes associated with specific diseases have been discovered and sequenced, many genotype-phenotype relationships have been defined. For those genetic diseases with associated, defined, gene mutations, sophisticated DNA diagnostic tests are being developed. As an example, the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, is associated with Cystic Fibrosis (CF). We have developed a new molecular diagnostic technology, PCR/OLA/SCS, and applied it first to the diagnosis of CF. Test design in the field of molecular diagnostics must consider such characteristics as specificity, sensitivity, ease and speed of protocol, multiplex capacity, and cost. PCR/OLA/SCS addresses these requirements. Polymerase Chain Reaction (PCR) is widely used in both diagnostics and research. We have combined well established PCR technology with Oligonucleotide Ligation Assay (OLA) and Sequence-Coded Separation (SCS), two relatively new technologies.
authors.affiliation: PE Applied Biosystems Foster City, CA 94404, USA.
authors.forename: E C
authors.initials: EC
authors.lastname: Brinson
authors.forename: T
authors.initials: T
authors.lastname: Adriano
authors.forename: W
authors.initials: W
authors.lastname: Bloch
authors.forename: C L
authors.initials: CL
authors.lastname: Brown
authors.forename: C C
authors.initials: CC
authors.lastname: Chang
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: F A
authors.initials: FA
authors.lastname: Eggerding
authors.forename: P D
authors.initials: PD
authors.lastname: Grossman
authors.forename: D M
authors.initials: DM
authors.lastname: Iovannisci
authors.forename: A M
authors.initials: AM
authors.lastname: Madonik
authors.forename: D G
authors.initials: DG
authors.lastname: Sherman
authors.forename: R W
authors.initials: RW
authors.lastname: Tam
authors.forename: E S
authors.initials: ES
authors.lastname: Winn-Deen
authors.forename: S L
authors.initials: SL
authors.lastname: Woo
authors.forename: S
authors.initials: S
authors.lastname: Fung
authors.forename: D A
authors.initials: DA
authors.lastname: Iovannisci
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis / Q000379:methods*; D005069:Evaluation Studies as Topic; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA