Investigation of hotspot exons in APP gene in Iranian patients with early onset Alzheimer disease

Alzheimer’s disease (AD) is a progressive neurodegenerative disease that is characterized by memory loss and personality changes. Mutations in amyloid precursor protein (APP) are known to cause early-onset Alzheimer’s disease (EOAD). The aim of this study examined the variation of exons 16 and 17 APP gene mutation in cognitive function EOAD, these exons were hot spot in different investigation, and so were chosen. In this study, 24 patients with 48 individuals as control group were used. After PCR amplification, genotypes were analysis with sequencing method. Single nucleotide substitutions at exon 16 of the APP gene at position T12931884A in intron 1 which had 26 nucleotides to coding region was found in one Iranian patient with AD, but no other variations were found in exons 16 and 17 of APP gene in EOAD. Exons 16 and 17 are not hot spot in Iranian AD patients.