Cystic fibrosis transmembrane conductance regulator gene mutations
First Claim
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1. A method of determining whether a human is predisposed to cystic fibrosis, comprisingdetecting in a nucleic acid sample obtained from said human a 2068G>
- T mutation in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene, anddetermining that said human with the 2068G>
T mutation in both alleles of the CFTR gene has a predisposition to cystic fibrosis, whereby said mutation in both alleles indicates a predisposition to cystic fibrosis.
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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.
23 Citations
26 Claims
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1. A method of determining whether a human is predisposed to cystic fibrosis, comprising
detecting in a nucleic acid sample obtained from said human a 2068G> - T mutation in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene, and
determining that said human with the 2068G>
T mutation in both alleles of the CFTR gene has a predisposition to cystic fibrosis, whereby said mutation in both alleles indicates a predisposition to cystic fibrosis. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9)
- T mutation in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene, and
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10. A method of identifying a human with an increased likelihood of having an offspring predisposed to cystic fibrosis, comprising
detecting in a nucleic acid sample obtained from said human a 2068G> - T mutation in at least one allele of a cystic fibrosis transmembrane regulatory (CFTR) gene in said sample, and
determining that said human with the 2068G>
T mutation in at least one allele has an increased likelihood of having an offspring predisposed to cystic fibrosis, whereby said mutation in at least one allele indicates an increased likelihood of having an offspring predisposed to cystic fibrosis. - View Dependent Claims (11, 12, 13, 14, 15, 16, 17, 18)
- T mutation in at least one allele of a cystic fibrosis transmembrane regulatory (CFTR) gene in said sample, and
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19. A method of determining the cystic fibrosis status of a human, comprising:
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(a) detecting in a nucleic acid sample obtained from said human a 2068G>
T mutation in one or both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene, and(b) determining that said human (i) has cystic fibrosis or is predisposed to cystic fibrosis when the human is homozygous for the 2068G>
T mutation in the CFTR gene, whereby said mutation in both alleles of the CFTR gene indicates the human has cystic fibrosis or is predisposed to cystic fibrosis, or(ii) is a cystic fibrosis carrier when the human is heterozygous for the 2068G>
T mutation in the CFTR gene, whereby said mutation in only one allele of the CFTR gene indicates the human is a cystic fibrosis carrier. - View Dependent Claims (20, 21, 22, 23, 24, 25, 26)
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Specification
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Current AssigneeQuest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
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Original AssigneeQuest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
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InventorsSun, Weimin, McGinniss, Matthew J., Huang, Donghui, Buller, Arlene, Fenwick, Raymond, Peng, Mei, Quan, Franklin
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Primary Examiner(s)HANEY, AMANDA MARIE
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Application NumberUS13/358,322Publication NumberTime in Patent Office874 DaysField of SearchNoneUS Class Current435/6.11CPC Class CodesC12Q 1/6883 for diseases caused by alte...C12Q 2600/118 Prognosis of disease develo...C12Q 2600/156 Polymorphic or mutational m...C12Q 2600/158 Expression markersC12Q 2600/16 Primer sets for multiplex a...G01N 2333/705 Assays involving receptors,...G01N 2800/382 Cystic fibrosisG01N 2800/50 Determining the risk of dev...G01N 33/6872 Intracellular protein regul...G01N 33/6893 related to diseases not pro...Y10T 436/143333 Saccharide [e.g., DNA, etc.]
