Cystic fibrosis transmembrane conductance regulator gene mutations
First Claim
Patent Images
1. A method for detecting the presence of a gIVS6a+415_IVS10+2987Dup26817 bp mutation in the cystic fibrosis transmembrane regulatory (CFTR) gene in a human individual comprising:
- (a) contacting a nucleic acid sample comprising a CFTR nucleic acid with a detectably labeled nucleic acid probe that hybridizes to a mutant CFTR nucleic acid comprising the gIVS6a+415_IVS10+2987Dup26817 bp mutation, if present, but not to a wild-type CFTR nucleic acid, wherein the detectably labeled nucleic acid probe comprises SEQ ID NO;
2; and
(b) detecting the gIVS6a+415_IVS10+2987Dup26817 bp mutation when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid.
0 Assignments
0 Petitions
Accused Products
Abstract
The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. The mutations include duplication of exons including duplication of exons 6b through 10. Methods of identifying if an individual contains the exons 6b through 10 duplication are provided as well as nucleic acid fragments that contain the junction site of the duplicated segment. The detection of additional mutations in the CFTR gene are also provided.
25 Citations
20 Claims
-
1. A method for detecting the presence of a gIVS6a+415_IVS10+2987Dup26817 bp mutation in the cystic fibrosis transmembrane regulatory (CFTR) gene in a human individual comprising:
-
(a) contacting a nucleic acid sample comprising a CFTR nucleic acid with a detectably labeled nucleic acid probe that hybridizes to a mutant CFTR nucleic acid comprising the gIVS6a+415_IVS10+2987Dup26817 bp mutation, if present, but not to a wild-type CFTR nucleic acid, wherein the detectably labeled nucleic acid probe comprises SEQ ID NO;
2; and(b) detecting the gIVS6a+415_IVS10+2987Dup26817 bp mutation when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid. - View Dependent Claims (2, 3, 4, 5, 6, 7)
-
-
8. A method of identifying a human individual with an increased likelihood of having an offspring predisposed to cystic fibrosis, comprising:
-
(a) detecting the presence of a gIVS6a+415_IVS10+2987Dup26817 bp mutation in at least one allele of the CFTR gene in a sample comprising a CFTR nucleic acid from the human individual, wherein detection comprises; (i) contacting the nucleic acid sample with a detectably labeled nucleic acid probe that hybridizes to a mutant CFTR nucleic acid comprising the gIVS6a+415_IVS10+2987Dup26817 bp mutation, if present, but not to a wild-type CFTR nucleic acid, wherein the detectably labeled nucleic acid probe comprises SEQ ID NO;
2; and(b) detecting the gIVS6a+415_IVS10+2987Dup26817 bp mutation when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid; and (b) identifying the human individual as having an increased likelihood of having an offspring predisposed to cystic fibrosis when the gIVS6a+415_IVS10+2987Dup26817 bp mutation is detected in at least one allele of the CFTR gene in step (a) in comparison to a human individual that has a wild-type CFTR gene. - View Dependent Claims (9, 10, 11, 12, 13, 14)
-
-
15. A method of determining the cystic fibrosis status of a human individual, comprising:
-
(a) detecting the presence of a gIVS6a+415_IVS10+2987Dup26817 bp mutation in one or both alleles of the CFTR gene in a nucleic acid sample obtained from the human individual, wherein detection comprises; (i) contacting the nucleic acid sample with a detectably labeled nucleic acid probe that hybridizes to a mutant CFTR nucleic acid comprising the gIVS6a+415_IVS10+2987Dup26817 bp mutation, if present, but not to a wild-type CFTR nucleic acid, wherein the detectably labeled nucleic acid probe comprises SEQ ID NO;
2; and(ii) detecting the gIVS6a+415_IVS10+2987Dup26817 bp mutation when a hybrid is formed between the detectably labeled nucleic acid probe and the mutant CFTR nucleic acid; and (b) identifying the human individual as; (i) having cystic fibrosis or being predisposed to cystic fibrosis when the gIVS6a+415_IVS10+2987Dup26817 bp mutation in the CFTR gene is detected in both alleles of the CFTR gene of the human individual in step (a);
or(ii) being a cystic fibrosis carrier when the gIVS6a+415_IVS10+2987Dup26817 bp mutation in the CFTR gene is detected in at least one allele of the CFTR gene of the human individual in step (a). - View Dependent Claims (16, 17, 18, 19, 20)
-
Specification