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.
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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.
Specification