Gene mutation associated with age-related macular degeneration
AssigneeOregon Health Sciences University
InventorsMichael L. Klein, Dennis Schultz
Life of this patent
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Abstract
The present invention describes the identification of a mutation in a human FIBL-6 protein, which mutation is associated with Familial Age-Related Macular Degeneration. Transcripts and products of this mutated gene are useful in detecting and diagnosing AMD, developing therapeutics for treatment of AMD, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.
Claims13
A method of determining whether a human subject is at risk for development of macular degeneration, the method comprising the steps of:
- (a) obtaining a nucleic acid sample from the human subject;
- (b) conducting an assay on the nucleic acid sample to determine the presence or absence of a mutation of a polynucleotide sequence set forth as SEQ ID NO:
- 1, the mutation being a substitution of at least one base of the codon at position 16,262, 16,263 and 16,264 wherein the mutated codon encodes glutamine;
- and (c) correlating the presence of the mutation with the risk of developing macular degeneration, wherein the presence of the mutation determines that the human subject is at risk for development of macular degeneration.
A method for confirming a diagnosis of acute macular degeneration in a human subject, comprising (a) obtaining a nucleic acid sample from the human subject;
- (b) conducting an assay on the nucleic acid sample to determine the presence or absence of a polynucleotide encoding a polypeptide sequence set forth as SEQ ID NO:
- 2, wherein arginine at position 5345 is substituted by a glutamine;
- and (c) correlating the presence of a polynucleotide encoding a polypeptide sequence set forth as SEQ ID NO:
- 2, wherein arginine at position 5345 is substituted for a glutamine with the presence of acute macular degeneration, thereby confirming the diagnosis of acute macular degeneration in the human subject.
Dependencies are inferred from the claim text.