Cystic fibrosis transmembrane conductance regulator gene mutations

• US 9,909,183 B2
• Filed: 07/18/2016
• Issued: 03/06/2018
• Est. Priority Date: 12/22/2006
• Status: Active Grant

• Current Assignee: Quest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
• Original Assignee: Quest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
• Inventors: Sun, Weimin, McGinniss, Matthew J., Huang, Donghui, Buller, Arlene, Fenwick, Raymond, Peng, Mei, Quan, Franklin
• Primary Examiner(s): HANEY, AMANDA MARIE
• Application Number:
  US15/212,581
• Publication Number:
  US 20170002418A1
• Time in Patent Office: 596 Days
• Field of Search: None
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/118 Prognosis of disease development
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: C12Q 2600/158 Expression markers
• CPC Class Codes: C12Q 2600/16 Primer sets for multiplex assays
• CPC Class Codes: G01N 2333/705 Assays involving receptors, cell surface antigens or cell surface determinants
• CPC Class Codes: G01N 2800/382 Cystic fibrosis
• CPC Class Codes: G01N 2800/50 Determining the risk of developing a disease
• CPC Class Codes: G01N 33/6872 Intracellular protein regulatory factors and their receptors, e.g. including ion channels
• CPC Class Codes: G01N 33/6893 related to diseases not provided for elsewhere
• CPC Class Codes: Y10T 436/143333 Saccharide [e.g., DNA, etc.]

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

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 1342-2A>

G 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 mutation; and

(b) detecting the 1342-2A>

G mutation when a hybrid is formed between the probe and the CFTR nucleic acid comprising the 1342-2A>

G mutation.

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

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

4. The method of claim 1, wherein the mutation is additionally detected by primer extension.

5. The method of claim 1, wherein the mutation is additionally detected by oligonucleotide ligation.

6. 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.

7. The method of claim 1, wherein the mutation is additionally detected by nucleic acid sequencing.