Title: [Study on mutation of presenilin-1 gene in familial Alzheimer's disease].
Abstract: OBJECTIVE To explore the role of the mutation of presenilin-1 exon 6 in pathogenesis of Alzheimer's disease(AD) patients. METHODS Exon 6 of presenilin-1 was analyzed by use of polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA analyzer technique in 2 patients with familial AD, 53 patients with sporadic DA, 60 patients with vascular dementia(VD) and 90 normal controls. RESULTS Mobility shift of SSCP in exon 6 of presenilin-1 was detected in 2 cases with FAD, 4 cases with SDA and 1 case with VD. Two missense mutations were found in the patients by DNA sequence analysis, one mutation was 1123 nt C-->G(Cys 23 Trp) and the other was 1300 nt A-->C(Asp 200 Ala). CONCLUSION Mutations in exon 6 of presenilin-1 existed in the patients with FAD and SDA, and the two missense mutations were probably pathological by nature.
Publication Year: 2004
Publication Date: 2004-10-01
Language: en
Type: article
Indexed In: ['pubmed']
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