Study on mutation of presenilin-1 gene in familial Alzheimer's disease.
- Author:
Xin-yan LIU
1
;
Li-de YIN
;
Yong DUAN
;
Yu-min WANG
;
Bao-wen CHEN
;
Yan WANG
Author Information
- Publication Type:Journal Article
- MeSH: Aged; Aged, 80 and over; Alzheimer Disease; genetics; Exons; genetics; Female; Humans; Male; Mutation; Mutation, Missense; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Presenilin-1; genetics; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2004;21(5):455-458
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the role of the mutation of presenilin-1 exon 6 in pathogenesis of Alzheimer's disease(AD) patients.
METHODSExon 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.
RESULTSMobility 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).
CONCLUSIONMutations in exon 6 of presenilin-1 existed in the patients with FAD and SDA, and the two missense mutations were probably pathological by nature.
