Cystic fibrosis gene mutations

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.

1 . A method of detecting a mutant cystic fibrosis transmembrane (CFTR) nucleic acid in an individual, comprising: (a) contacting a biological sample comprising a CFTR nucleic acid from an individual with a detectably labeled nucleic acid probe that specifically hybridizes to a mutant CFTR nucleic acid comprising the mutation but not to a wild-type CFTR nucleic acid; and the probe comprises the mutation; and (b) detecting the CFTR mutation in the individual when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid, wherein the mutation is selected from the group consisting of c.473G>C, c.1072G>A, c.1441A>G, and c.1472G>C. 
     
     
         2 . The method of  claim 1 , further comprising contacting the CFTR nucleic acid with a primer pair to amplify the CFTR nucleic acid. 
     
     
         3 . The method of  claim 2 , wherein the nucleic acid amplification is allele specific amplification. 
     
     
         4 . The method of  claim 2 , wherein the portion of the CFTR nucleic acid sequence that comprises the mutation is amplified by the primer pair. 
     
     
         5 . The method of  claim 1 , wherein the biological sample comprises CFTR genomic DNA. 
     
     
         6 . The method of  claim 1 , wherein the biological sample comprises CFTR mRNA. 
     
     
         7 . The method of  claim 6 , further comprising reverse transcription of CFTR mRNA to cDNA.