Application of the Luminex LabMAP in Rapid Screening for Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator Gene: A Pilot Study
- 1 September 2000
- journal article
- research article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 46 (9) , 1498-1500
- https://doi.org/10.1093/clinchem/46.9.1498
Abstract
Cystic fibrosis (CF) is an autosomal recessive disorder that occurs in ∼1 in 2500 Caucasians (1)(2)(3). CF can result from combinations of >750 known mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and in certain populations, as many as 1 person in 25 is a carrier (1)(2)(3). To date, screening methods have either been narrow, requiring multiple methodologies to be brought to bear for comprehensive coverage, or are cost prohibitive (1)(4). This study describes the Luminex LabMAPTM system and its potential for simultaneous, rapid, sensitive, and specific screening for mutations in the CFTR gene.Keywords
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