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Investigation of PSEN1, 2 Hot Spots in Iranian Early-Onset Alzheimer's Disease Patients
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| Leila Akbari , Maryam Noroozian , Parisa Azadfar , Samira Shaibaninia , Farhad Assarzadegan , Massoud Houshmand |
| Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran , massoudh@nigeb.ac.ir |
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Abstract: (6868 Views) |
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.
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| Keywords: Alzheimer disease, PSEN1 gene, PSEN2 gene, Mutation, Iran |
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Full-Text [PDF 77 kb]
(1812 Downloads)
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Type of Study: Research |
Subject:
Genetics and Molecular Biology
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