| Popis: |
The aim of this study is to screen for mutations in the presenilin-1 (PSEN1) gene,16-17 exons of amyloid precursor protein (APP) gene and determining apolipoprotein-E (APOE) genotype in patients with Alzheimer’s disease (AD). The coding regions of PSEN1 gene, 16-17 exons of APP gene were screened by using DNA sequence analysis in 30 patients with late onset of Alzheimer’s disease (LOAD) diagnosed based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria and 40 non-dementia controls. Additionally, genotype and allele frequencies of ε2, ε3 and ε4 polymorphisms of APOE gene were determined by using PCR-RFLP methods in both groups. No mutation was found in the coding regions of PSEN1 gene and 16-17 exons of APP gene. On the other hand, rs165932 (G/T) polymorphism was found in intron 8 of PSEN1 in 26 patients. There was no significant difference in genotype and allele frequencies of intronic polymorphism between control group and patients (p>0.05). The frequency of ε3/ε4 genotype was significantly higher in patient group (p0.05). We suggested that there was a potential association between LOAD and APOE ε4 allele; however, no result could found to link the between PSEN1 gene polymorphism and disease pathogenesis. |
