Mutations associated with cystic fibrosis
First Claim
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1. A method comprising:
- detecting in a sample obtained from a human subject the presence of a 1824delA mutation in a cystic fibrosis transmembrane conductance regulator (CFTR) gene or protein; and
indicating that the subject has cystic fibrosis, or is at risk of developing cystic fibrosis when the subject is homozygous for the 1824delA mutation, or is a carrier of cystic fibrosis when the subject is heterozygous for the 1824delA mutation.
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Abstract
The present invention provides novel mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can be used for a more accurate diagnosis of cystic fibrosis (CF) and CF related disorders. Methods for testing a sample obtained from a subject to determine the presence of one or more mutations in the CFTR gene are provided wherein the presence of one or more mutations indicates that the subject has CF or a CF related disorder, or is a carrier of a CFTR mutation.
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29 Claims
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1. A method comprising:
- detecting in a sample obtained from a human subject the presence of a 1824delA mutation in a cystic fibrosis transmembrane conductance regulator (CFTR) gene or protein; and
indicating that the subject has cystic fibrosis, or is at risk of developing cystic fibrosis when the subject is homozygous for the 1824delA mutation, or is a carrier of cystic fibrosis when the subject is heterozygous for the 1824delA mutation. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29)
- detecting in a sample obtained from a human subject the presence of a 1824delA mutation in a cystic fibrosis transmembrane conductance regulator (CFTR) gene or protein; and
Specification