Author/Authors :
Akbari، Leila نويسنده School of Nursing and Midwifery, Isfahan University of Medical Sciences, Isfahan , , Noroozian، Maryam نويسنده , , Azadfar، Parisa نويسنده Department of Biology, Sciences and Research Branch, Azad University, Tehran, Iran Azadfar, Parisa , Shaibaninia، Samira نويسنده Department of Biology, Sciences and Research Branch, Azad University, Tehran, Iran Shaibaninia, Samira , Assarzadegan، Farhad نويسنده Department of Neurology, Shahid Beheshti University of Medical Sciences, Tehran, Iran Assarzadegan, Farhad , Houshmand، Massoud نويسنده ,
Abstract :
Background: Alzheimerʹs disease is a progressive, neurodegenerative disease with both genetic and non genetic causes. Familial Alzheimerʹs disease can be caused by mutations in the amyloid precursor protein, presenilin 1 and presenilin 2. Early-onset familial Alzheimerʹs disease (autosomal dominantly inherited) accounts for a small fraction (2-3%) of Alzheimerʹs 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.
