investigation of psen1, 2 hot spots in iranian early-onset alzheimer's disease patients

Background: alzheimer's disease is a progressive, neurodegenerative disease with both genetic and non genetic causes. familial alzheimer's disease can be caused by mutations in the amyloid precursor protein, presenilin 1 and presenilin 2. early-onset familial alzheimer's disease (autosomal dominantly inherited) accounts for a small fraction (2-3%) of alzheimer's disease cases. the aim of this study was investigation of exons 5, 7 in psen1 and exons 5, 6 in psen2 genes in iranian patients with early onset alzheimer disease. these exons were hot spots in different country. materials and methods: in this experimental study 24 patients with early onset alzheimer disease and 48 healthy subjects as control group were included in this study. after dnas extraction from whole blood, pcr-sequencing was used to amplify and analyze 4 exons. results: two known mutations (glu 120 lys in exon 3 of two patients and arg 62 his in exon 5 of one patient) were found. conclusion: according to the above findings, these exons were not hot spot in iran.