Patent ID: 7358063

Claim:
A method of detecting a presenilin-2 variant that has a deletion of the amino acid sequence encoded by exon 5 (PS2V), said method comprising: (a) reacting a test sample with a primary antibody, so as to form a complex between said primary antibody and any PS2V present in said test sample, wherein the primary antibody is immobilized on a solid phase and specifically recognizes a region including the amino acid sequence of Ser-Ser-Met-Ala-Gly (SEQ ID NO:7) at the C terminal of the amino acid sequence of SEQ ID NO:2; (b-1) reacting the complex with a secondary antibody which is marked with a label and specifically recognizes the amino acid sequence consisting of Glu-Asn-Thr-Ala-Gln-Trp-Arg-Ser-Gln-Glu-Asn-Glu-Glu-Asp-Gly-Glu-Glu (SEQ ID NO: 9), or (b-2) reacting the complex with a secondary antibody which is biotinylated and subsequently reacting the secondary antibody reacted complex with an avidinated or streptoavidinated label, wherein the secondary antibody specifically recognizes the amino acid sequence consisting of Glu-Asn-Thr-Ala-Gln-Trp-Arg-Ser-Gln-Glu-Asn-Glu-Glu-Asp-Gly-Glu-Glu (SEQ ID NO: 9), or (b-3) reacting the complex with a secondary antibody which is biotinylated, subsequently reacting the secondary antibody reacted complex with avidin or streptoavidin and subsequently reacting the avidin or streptoavidin reacted complex with a biotinylated label, wherein the secondary antibody specifically recognizes the amino acid sequence consisting of Glu-Asn-Thr- Ala-Gln-Trp-Arg-Ser-Gln-Glu-Asn-Glu-Glu-Asp-Gly-Glu-Glu (SEQ ID NO: 9), or (b-4) reacting the complex with a secondary antibody and subsequently reacting the secondary antibody reacted complex with an antibody which is marked with a label and which specifically recognizes said secondary antibody, wherein the secondary antibody specifically recognizes the amino acid sequence consisting of Glu-Asn-Thr-Ala-Gln-Trp-Arg-Ser-Gln-Glu-Asn-Glu-Glu-Asp-Gly-Glu-Glu (SEQ ID NO: 9); and (c) detecting the amount of label captured by the complex so as to detect said PS2V in the test sample wherein PS2V is encoded by a cDNA sequence represented by SEQ ID NO: 4 and PS2 is encoded by a cDNA sequence represented by SEQ ID NO: 3.