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US 11,447,826 B2Granted
Cystic fibrosis transmembrane conductance regulator gene mutations
AssigneeQuest Diagnostics Investments Incorporated
InventorsWeimin Sun, Matthew J. McGinniss, Donghui Huang, Arlene Buller, Raymond Fenwick, Mei Peng, Franklin Quan
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Abstract
The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.
Claims5
A method of detecting a mutation in exon 17b of a cystic fibrosis transmembrane regulatory (CFTR) gene, comprising:
- (a) contacting a biological sample comprising a CFTR nucleic acid obtained from a human with a detectably labeled nucleic acid probe that specifically hybridizes to a CFTR nucleic acid comprising a mutation, wherein the detectably labeled nucleic acid probe comprises a sequence of 8-20 nucleotides that is fully complementary to a portion of the CFTR nucleic acid that encodes for the E1104V amino acid substitution;
- and
- (b) detecting the mutation in exon 17b of the CFTR gene when a hybrid is formed between the probe and the CFTR nucleic acid comprising the mutation.
Dependencies are inferred from the claim text.