[A study on mutation of exon 5 of presenilin-1 in Alzheimer's disease].
OBJECTIVE
To explore the role of the mutation of presenilin-1 in pathogenesis of sporadic Alzheimer's disease.


METHODS
The exon 5 of presenilin-1 was analysed by using polymerase chain reaction- single strand conformation polymorphism (PCR-SSCP) and ABI 310 genetic analyzer technique in 68 patients with Alzheimer's disease and 65 normal controls.


RESULTS
A mobility shift of SSCP in exon 5 of presenilin-1 was detected in 4 patients with Alzheimer's disease;two missense mutations were found. One mutation was at Leu 130 Met and the other at Val157 Leu. Another mobility shift of SSCP in exon 5 of presenilin-1 was detected in 11 patients with Alzheimer's disease. One missense mutation was at Leu 130 Met and one same sense mutation C462-->T. But no mobility shift of SSCP was found in patients with vascular dementia and in normal controls.


CONCLUSIONS
The authors found that mutations in exon 5 of presenilin-1 also existed in patients with sporadic Alzheimer's disease, which might be one of the points of mutations in sporadic Alzheimer's disease in Chinese.
Ma
Q
Q
Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University of Medical Science, Guangzhou 510080 P.R.China.
Qian
C
C
Liu
Z
Z
Lu
X
X
Lin
H
H
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D053764:Presenilin-1
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1