Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.
The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families. This strategy has enabled us to find a further two novel mutations in the gene. We discuss the distribution of mutations and the proportions of autosomal dominant AD with a mean age of onset below 60 years caused by mutations in this gene.
Hutton
M
M
Department of Psychiatry, University of South Florida, Tampa 33613, USA.
Busfield
F
F
Wragg
M
M
Crook
R
R
Perez-Tur
J
J
Clark
R F
RF
Prihar
G
G
Talbot
C
C
Phillips
H
H
Wright
K
K
Baker
M
M
Lendon
C
C
Duff
K
K
Martinez
A
A
Houlden
H
H
Nichols
A
A
Karran
E
E
Roberts
G
G
Roques
P
P
Rossor
M
M
Venter
J C
JC
Adams
M D
MD
Cline
R T
RT
Phillips
C A
CA
Goate
A
A
D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D016000:Cluster Analysis; D017931:DNA Primers; D005091:Exons / Q000502:physiology; D008040:Genetic Linkage; D016678:Genome; D006801:Humans; D007494:Ireland; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D016366:Open Reading Frames; D053764:Presenilin-1; D006113:United Kingdom
D017931:DNA Primers; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1