# US 10,501,799 B2 · Cystic fibrosis transmembrane conductance regulator gene mutations

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- Number: US 10,501,799 B2
- Document ID: US10501799B2
- Status: Granted
- Kind: B2
- Application number: 15/910,681
- Filed: 2018-03-02
- Published: 2018-07-12
- Granted: 2019-12-10
- Earliest claimed: 2006-12-22
- Assignees: Quest Diagnostics Investments Incorporated
- Applicants: Quest Diagnostics Investments Incorporated
- Inventors: Weimin Sun; Matthew J. McGinniss; Donghui Huang; Arlene Buller; Raymond Fenwick; Mei Peng; Franklin Quan
- Web page: https://patentgrep.com/patent/US10501799B2

## CPC

- C12Q 1/6883: for diseases caused by alterations of genetic material
- G01N 33/6872: {Intracellular protein regulatory factors and their receptors, e.g. including ion channels}
- G01N 33/6893: {related to diseases not provided for elsewhere}
- C12Q 2600/118: Prognosis of disease development
- C12Q 2600/156: Polymorphic or mutational markers
- C12Q 2600/158: Expression markers
- C12Q 2600/16: Primer sets for multiplex assays
- G01N 2333/705: Assays involving receptors, cell surface antigens or cell surface determinants
- G01N 2800/382: Cystic fibrosis
- G01N 2800/50: Determining the risk of developing a disease
- Y10T 436/143333: Saccharide [e.g., DNA, etc.]
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- G01N: INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (measuring or testing apparatus or processes other than immunoassay, involving enzymes or microorganisms C12M, C12Q)
- Y10T: TECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION

## 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.

## Claims

### Claim 1

A method of detecting a cystic fibrosis transmembrane regulatory (CFTR) mutation, 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 comprises the 4375-2A>G mutation; and
(b) detecting the mutation when a hybrid is formed between the probe and the CFTR nucleic acid comprising the mutation.

### Claim 2 (depends on 1)

The method of claim 1, wherein the CFTR nucleic acid is genomic DNA or cDNA.

### Claim 3 (depends on 1)

The method of claim 1, wherein the method comprises allele specific amplification.

### Claim 4 (depends on 1)

The method of claim 1, wherein the mutation is additionally detected in a biological sample from the human comprising a CFTR protein using an antibody having a binding specificity for the mutated CFTR protein and not to a wild-type CFTR protein.

### Claim 5 (depends on 1)

The method of claim 1, wherein the mutation is additionally detected by primer extension, by oligonucleotide ligation, or nucleic acid sequencing.

### Claim 6 (depends on 1)

The method of claim 1, wherein the nucleic acid is suspected of containing a mutant CFTR sequence.