Cystic fibrosis 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 c.3297C>
A mutation, which results in F1099L/p.Phe1099Leu, in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene 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 c.3297C>
A mutation in the CFTR gene, or(ii) as being a cystic fibrosis carrier when the human is heterozygous for the c.3297C>
A mutation in the CFTR gene, or(iii) as having no predisposition or carrier status caused by the c.1352G>
T mutation when the c.3297C>
A 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.
22 Citations
11 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 c.3297C>
A mutation, which results in F1099L/p.Phe1099Leu, in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene 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 c.3297C>
A mutation in the CFTR gene, or(ii) as being a cystic fibrosis carrier when the human is heterozygous for the c.3297C>
A mutation in the CFTR gene, or(iii) as having no predisposition or carrier status caused by the c.1352G>
T mutation when the c.3297C>
A mutation is absent from both alleles of the CFTR gene. - View Dependent Claims (4, 5, 6, 7, 8, 9, 10, 11)
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2. A method of determining if a human is predisposed to cystic fibrosis comprising:
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(a) determining the presence or absence of the c.3297C>
A mutation, which results in F1099L/p.Phe1099Leu. in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene in a nucleic acid sample obtained from the human, and(b) identifying said human (i) as being predisposed to cystic fibrosis when the human is homozygous for the c.3297C>
A mutation in the CFTR gene, or(ii) as having no predisposition to cystic fibrosis when the human is heterozygous for the c.3297C>
A mutation in the CFTR gene or the c.3297C>
A mutation is absent from both alleles of the CFTR gene.
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3. A method of identifying a human as having an increased likelihood of having an offspring afflicted with cystic fibrosis, comprising
(a) determining the presence or absence of the c.3297C> - A mutation, which results in F1099L/p.Phe1099Leu, in both alleles of the CFTR gene in a nucleic acid sample obtained from the human, and
(b) identifying said human as having an increased likelihood of having an offspring afflicted with cystic fibrosis when said c.3297C>
A mutation is present in at least one allele.
- A mutation, which results in F1099L/p.Phe1099Leu, in both alleles of the CFTR gene in a nucleic acid sample obtained from the human, and
Specification