Mutations associated with cystic fibrosis

摘要

The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.

主权项

1. A composition consisting of a plurality of labeled nucleic acid molecules that each consist of a fragment of a cystic fibrosis transmembrane conductance regulator gene and that specifically hybridize to a mutant but not a wild-type cystic fibrosis transmembrane conductance regulator gene, wherein at least one of the labeled nucleic acid molecules contains a cystic fibrosis transmembrane conductance regulator 1824delA mutation, and wherein the label comprises one of a radionucleotide, a fluorophore, a chemiluminescent agent, a microparticle, an enzyme, a colorimetric label, a magnetic label, a hapten, a molecular beacon, or an aptamer beacon.