[Study on mutation of presenilin-1 gene in familial Alzheimer's disease].
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).


CONCLUSIONS
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.
Liu
Xin-yan
XY
Section of Experimental Biology, Second People's Hospital, Yuxi, Yunnan, 653100 P. R. China. Liuxya@sina.com
Yin
Li-de
LD
Duan
Yong
Y
Wang
Yu-min
YM
Chen
Bao-wen
BW
Wang
Yan
Y
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D053764:Presenilin-1 / Q000235:genetics*; D017422:Sequence Analysis, DNA
D053764:Presenilin-1