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A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene

Balbin, Milagros; Abrahamson, Magnus LU ; Gustafson, Lars LU ; Nilsson, Karin; Brun, Arne LU and Grubb, Anders LU (1992) In Human Genetics 89(5). p.580-582
Abstract
A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow population studies of this DNA variation. The mutation, which is silent at the protein level, was present in 2 out of 12 investigated AD patients, in 1 out of 60 non-AD patients and in 1 out of 30 healthy individuals. The mutation can be used as a new marker for linkage studies involving the APP gene, although more comprehensive population studies are required to determine the status of the mutation as a possible risk factor for the development of AD.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
89
issue
5
pages
580 - 582
publisher
Springer
external identifiers
  • scopus:0026688057
ISSN
1432-1203
DOI
10.1007/BF00219191
language
English
LU publication?
yes
id
0a63942b-b611-4c7a-9363-501ffd2eb9e7 (old id 1106874)
date added to LUP
2008-07-31 09:42:46
date last changed
2017-01-01 06:38:32
@article{0a63942b-b611-4c7a-9363-501ffd2eb9e7,
  abstract     = {A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow population studies of this DNA variation. The mutation, which is silent at the protein level, was present in 2 out of 12 investigated AD patients, in 1 out of 60 non-AD patients and in 1 out of 30 healthy individuals. The mutation can be used as a new marker for linkage studies involving the APP gene, although more comprehensive population studies are required to determine the status of the mutation as a possible risk factor for the development of AD.},
  author       = {Balbin, Milagros and Abrahamson, Magnus and Gustafson, Lars and Nilsson, Karin and Brun, Arne and Grubb, Anders},
  issn         = {1432-1203},
  language     = {eng},
  number       = {5},
  pages        = {580--582},
  publisher    = {Springer},
  series       = {Human Genetics},
  title        = {A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene},
  url          = {http://dx.doi.org/10.1007/BF00219191},
  volume       = {89},
  year         = {1992},
}