Cystic fibrosis transmembrane conductance regulator gene mutations
First Claim
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1. A method of determining the cystic fibrosis status of a human, comprising:
- (a) determining the presence or absence of the 630delG mutation in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene of the human in a nucleic acid sample obtained from the human, and(b) identifying the human(i) as having cystic fibrosis or being predisposed to cystic fibrosis when the human is homozygous for the 630delG mutation in the CFTR gene, or(ii) as being a cystic fibrosis carrier when the human is heterozygous for the 630delG mutation in the CFTR gene, or(iii) as having no predisposition or carrier status caused by the 630delG mutation when the 630delG mutation is absent from both alleles of the CFTR gene.
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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
16 Claims
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1. A method of determining the cystic fibrosis status of a human, comprising:
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(a) determining the presence or absence of the 630delG mutation in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene of the human in a nucleic acid sample obtained from the human, and (b) identifying the human (i) as having cystic fibrosis or being predisposed to cystic fibrosis when the human is homozygous for the 630delG mutation in the CFTR gene, or (ii) as being a cystic fibrosis carrier when the human is heterozygous for the 630delG mutation in the CFTR gene, or (iii) as having no predisposition or carrier status caused by the 630delG mutation when the 630delG mutation is absent from both alleles of the CFTR gene. - View Dependent Claims (4, 5, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16)
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2. A method of identifying whether a human has cystic fibrosis or is predisposed to cystic fibrosis comprising determining whether the human is homozygous for the 630delG mutation in the cystic fibrosis transmembrane regulatory (CFTR) gene in a nucleic acid sample obtained from the human and identifying the human as having cystic fibrosis or as being predisposed to cystic fibrosis when the human is homozygous for the 630delG mutation.
- 3. A method of identifying a human with an increased likelihood of having an offspring afflicted with cystic fibrosis, comprising determining the presence or absence of the 630delG mutation in the cystic fibrosis transmembrane regulatory (CFTR) gene in a nucleic acid sample obtained from the human, and identifying the human as having an increased likelihood of having an offspring afflicted with cystic fibrosis when the 630delG mutation is present in at least one allele.
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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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InventorsBuller, Arlene, Peng, Mei, McGinniss, Matthew J., Fenwick, Raymond, Huang, Donghui, Quan, Franklin, Sun, Weimin
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Primary Examiner(s)Kapushoc; Stephen
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Assistant Examiner(s)SHAW, AMANDA MARIE
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Application NumberUS11/938,138Publication NumberTime in Patent Office1,082 DaysField of SearchNoneUS Class Current435/6.12CPC 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.]
