Figure 2

Genetic analysis in finding novel Val214Leu mutation at PSEN2 exon 7. After PCR amplification of APP exon 16 and 17, PSEN 1 exon 4, 5, 6, 7, 8, and 11, PSEN 2 exon 4, 5, 6, 7, and 12, and the coding region of the PRNP gene, PCR amplicons were analysis by single-strand conformation polymorphism (SSCP, a) and Surveyor nuclease assay (b). PCR amplicon from AD patient showed different cleavage pattern than the normal control by nuclease, as indicated with red arrows (c). All PCR amplicons were sequenced with primers, used in PCR amplification. Novel mutation of Val214Leu at PSEN 2at exon 7 of the patient was obtained, where GTG of Val was converted into TTG of Leu at 5′ direction (red arrow) and CAC to CAA at 3′ direction (green arrow).