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. Seque...

Full description

Saved in:
Bibliographic Details
Published inNeuroreport Vol. 10; no. 3; p. 503
Main Authors Smith, M J, Gardner, R J, Knight, M A, Forrest, S M, Beyreuther, K, Storey, E, McLean, C A, Cotton, R G, Cappal, R, Masters, C L
Format Journal Article
LanguageEnglish
Published England 25.02.1999
Subjects
Age of Onset
Aged
Alzheimer Disease - epidemiology
Alzheimer Disease - genetics
Amino Acid Substitution
Codon - genetics
DNA - genetics
DNA Mutational Analysis
Exons - genetics
Female
Genome
Humans
Male
Membrane Proteins - genetics
Middle Aged
Mutation, Missense - genetics
Polymerase Chain Reaction
Presenilin-1
Online AccessGet more information

Cover

More Information
Summary: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.
ISSN:0959-4965
DOI:10.1097/00001756-199902250-00011