Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene

M. J. Smith; R. J.M. Gardner; M. A. Knight; S. M. Forrest; K. Beyreuther; E. Storey; C. A. McLean; R. G.H. Cotton; R. Cappal; C. L. Masters

doi:10.1097/00001756-199902250-00011

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene

M. J. Smith, R. J.M. Gardner, M. A. Knight, S. M. Forrest, K. Beyreuther, E. Storey, C. A. McLean, R. G.H. Cotton, R. Cappal, C. L. Masters

Epidemiology and Preventive Medicine Alfred Hospital

Research output: Contribution to journal › Article › Research › peer-review

21 Citations (Scopus)

Abstract

Mutations in the presenilin 1 (PS1) gene are responsible for ~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 PSI gene. This is a novel mutation in exon 7 of the PSI gene occurring outside the transmembrane regions of IV and V.

Original language	English
Pages (from-to)	503-507
Number of pages	5
Journal	NeuroReport
Volume	10
Issue number	3
DOIs	https://doi.org/10.1097/00001756-199902250-00011
Publication status	Published - 25 Feb 1999

Keywords

Amyloid precursor protein
Chemical cleavage of mismatch
Early onset Alzheimer's disease
Mutation detection
Presenilin

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10.1097/00001756-199902250-00011

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title = "Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene",

abstract = "Mutations in the presenilin 1 (PS1) gene are responsible for \textasciitilde{}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 PSI gene. This is a novel mutation in exon 7 of the PSI gene occurring outside the transmembrane regions of IV and V.",

keywords = "Amyloid precursor protein, Chemical cleavage of mismatch, Early onset Alzheimer's disease, Mutation detection, Presenilin",

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T1 - Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene

AU - Smith, M. J.

AU - Gardner, R. J.M.

AU - Knight, M. A.

AU - Forrest, S. M.

AU - Beyreuther, K.

AU - Storey, E.

AU - McLean, C. A.

AU - Cotton, R. G.H.

AU - Cappal, R.

AU - Masters, C. L.

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AB - Mutations in the presenilin 1 (PS1) gene are responsible for ~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 PSI gene. This is a novel mutation in exon 7 of the PSI gene occurring outside the transmembrane regions of IV and V.

KW - Amyloid precursor protein

KW - Chemical cleavage of mismatch

KW - Early onset Alzheimer's disease

KW - Mutation detection

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Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene

Abstract

Keywords

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