[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.
Section of Experimental Biology, Second People's Hospital, Yuxi, Yunnan, 653100 P. R. China. Liuxya@sina.com
Xin-yan
XY
Liu
Li-de
LD
Yin
Yong
Y
Duan
Yu-min
YM
Wang
Bao-wen
BW
Chen
Yan
Y
Wang
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