Title: New mutation of exon 6 of presenilin-1 in dementia sufferer
Abstract: Objective To explore the role of the mutation of presenilin-1 exon 6 in pathogenesis of dementia sufferer. Methods Exon 6 of presenilin-1 was analyesd by using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA analyzer technique in 53 patients with Alzheimer's disesase, 60 patients with vascular dementia and 90 normal controls. Results Mobility shifts of SSCP in exon 6 of presenilin-1 were detected in 4 patients with Alzheimer's disease and 1 patient with vascular dementa. Two missense mutations were found in patients by using DNA sequence analyse, in which one mutation was 1123 nt C→G(Cys 23 Trp) and the other was 1300 nt A→C(Asp 200 Ala). Conclusion It suggests that mutations in exon 6 of presenilin-1 might exist in patients with sporadic Alzhemer's disease, and the two missense mutations should be pathologic mutations.
Publication Year: 2004
Publication Date: 2004-01-01
Language: en
Type: article
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