Patent ID: 7351534
Filing Date: 2008-04-01
Classification: C12Q

Abstract:
1. 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.