Cystic fibrosis gene mutations
AssigneeQuest Diagnostics Investments Incorporated
InventorsMatthew J. McGinniss, Arlene M. Buller, Franklin Quan, Mei Peng, Weimin Sun
Life of this patent
Estimating the term…
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.
Claims24
-11. (canceled)
A method of detecting a mutant cystic fibrosis transmembrane (CFTR) nucleic acid in an individual, comprising
- a) assaying a biological sample comprising a CFTR nucleic acid from the individual, and
- b) detecting a mutation in the CFTR nucleic acid wherein the mutation is selected from the group consisting of c.473G>C, c.1072G>A, c.1441A>G, c.1472G>C,
- c.2817—2821 del, c.2846A>T, and c.3107C>A, and
A method of determining the cystic fibrosis status of a human, comprising:
- (a) assaying a biological sample comprising a CFTR nucleic acid from the human;
- (b) determining the presence of a mutation in one or both alleles of the CFTR gene in the human, wherein the mutation is selected from the group consisting of c.473G>C, c.1072G>A, c.1441A>G, c.1472G>C, c.2817—2821 del, c.2846A>T, and c.3107C>A, and
- (c) identifying the human:
- (i) as having cystic fibrosis or being predisposed to cystic fibrosis when the human is homozygous for the mutation in the CFTR gene, thereby correlating the human with having cystic fibrosis;
- or
- (ii) as being a cystic fibrosis carrier when the human is heterozygous for the mutation in the CFTR gene thereby correlating the human with having a predisposition for cystic fibrosis.
A method of determining if a human is predisposed to cystic fibrosis comprising:
- (a) assaying a biological sample comprising a CFTR nucleic acid from the human;
- (b) determining the presence of a mutation in one or both alleles of the CFTR gene in the human, wherein the mutation is selected from the group consisting of c.473G>C, c.1072G>A, c.1441A>G, c.1472G>C, c.2817—2821del, c.2846A>T, and c.3107C>A, and
- (c) identifying said human as:
- (i) being predisposed to cystic fibrosis when the human is homozygous for the mutation in the CFTR gene, or
- (ii) having no predisposition to cystic fibrosis when the human is heterozygous for the mutation in the CFTR gene.
A method of identifying a human as having an increased likelihood of having an offspring afflicted with cystic fibrosis, comprising:
- (a) assaying a biological sample comprising a CFTR nucleic acid from the human;
- (b) determining the presence of a mutation in one or both alleles of the CFTR gene in the human, wherein the mutation is selected from the group consisting of c.473G>C, c.1072G>A, c.1441A>G, c.1472G>C, c.2817—2821del, c.2846A>T, and c.3107C>A, and
- (c) identifying said human as having an increased likelihood of having an offspring afflicted with cystic fibrosis when the mutation is detected in at least one allele.
Dependencies are inferred from the claim text.