Back to results
US 8,999,635 B2Granted
Filaggrin
AssigneeUniversity Court of the University of Dundee
InventorsWilliam Henry Irwin McLean, Frances Jane Dorothy Smith
Life of this patent
Estimating the term…
Abstract
The present invention relates to the identification of loss-of-function mutations in the filaggrin gene and their use in diagnosing ichthyosis vulgaris and/or susceptibility to other diseases including atopic dermatitis (eczema), asthma, psoriasis and allergies (including food allergy).
Claims10
A method for detecting ichthyosis vulgaris or a predisposition to ichthyosis vulgaris in a human subject comprising the step of:
- detecting in a sample of nucleic acid from the subject the presence of a R501X mutation in the filaggrin gene using one or more of the primers selected from SEQ ID NO:
- 9, 10, 11, or 12;
- and
- correlating the presence of the R501X mutation in the sample with detection of ichthyosis vulgaris or a predisposition to ichthyosis vulgaris in the subject.
1 more element
A method for detecting atopic dermatitis or asthma in a human subject comprising the step of:
- detecting in a sample of nucleic acid from the subject the presence of a R501X mutation in the filaggrin gene using one or more of the primers selected from SEQ ID NO:
- 9, 10, 11, or 12;
- and
- correlating the presence of the R501X mutation in the sample with detection of atopic dermatitis or asthma in the subject.
1 more element
Dependencies are inferred from the claim text.