Patent ID: 9567637
Date: 2017-02-14
CPC Classifications: A61P,C12Q

Claim:
1. A method of determining the presence of a HTRA1 mutation in a human subject, comprising: (a) obtaining a biological sample from a human subject; (b) assaying a HTRA1 nucleic acid in the biological sample for a HTRA1 mutation selected from the group consisting of C>T at position 1108 of SEQ ID NO: 1, C>T at position 904 of SEQ ID NO: 1, G>A at position 889 of SEQ ID NO: 1, and G>A at position 754 of SEQ ID NO: 1 by contacting the HTRA1 nucleic acid with a detectably labeled oligonucleotide probe, wherein the detectably labeled oligonucleotide probe comprises a fragment of the complement of SEQ ID NO: 1, wherein the fragment includes an A at position 1108, an A at position 904, a T at position 889, or T at position 754 of SEQ ID NO: 1; (c) detecting hybridization of the HTRA1 nucleic acid with the detectably labeled oligonucleotide probe; and (d) determining the presence of the HTRA1 mutation comprising a C>T at position 1108 of SEQ ID NO: 1, C>T at position 904 of SEQ ID NO: 1, G>A at position 889 of SEQ ID NO: 1, or G>A at position 754 of SEQ ID NO: 1.