Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.
Mutations in the presenilin 1 (PS1) gene are responsible for approximately 50% of early onset autosomal-dominant Alzheimer's disease cases. A PCR based mutation detection method, chemical cleavage of mismatch, was used to detect a novel PS1 mutation in the coding sequence of the PS1 gene. Sequencing confirmed a T to C transition altering a leucine to proline at codon 219 of the PS1 gene. This is a novel mutation in exon 7 of the PS1 gene occurring outside the transmembrane regions of IV and V.
Smith
M J
MJ
Department of Pathology, The University of Melbourne, Parkville, Vic, Australia.
Gardner
R J
RJ
Knight
M A
MA
Forrest
S M
SM
Beyreuther
K
K
Storey
E
E
McLean
C A
CA
Cotton
R G
RG
Cappal
R
R
Masters
C L
CL
D017668:Age of Onset; D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D016678:Genome; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D016133:Polymerase Chain Reaction; D053764:Presenilin-1
D003062:Codon; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D004247:DNA