Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
Details
State: Public
Version: author
Serval ID
serval:BIB_2B21B4515D23
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
Journal
BMC Research Notes
ISSN
1756-0500 (Electronic)
ISSN-L
1756-0500
Publication state
Published
Issued date
2011
Volume
4
Number
476
Pages
1-9
Language
english
Notes
Publication types: Journal ArticlePublication Status: epublish. PDF type: research article
Abstract
BACKGROUND: Missense mutations in three different genes encoding amyloid-β precursor protein, presenilin 1 and presenilin 2 are recognized to cause familial early-onset Alzheimer disease. Also duplications of the amyloid precursor protein gene have been shown to cause the disease. At the Dept. of Geriatric Medicine, Karolinska University Hospital, Sweden, patients are referred for mutation screening for the identification of nucleotide variations and for determining copy-number of the APP locus.
METHODS: We combined the method of microsatellite marker genotyping with a quantitative real-time PCR analysis to detect duplications in patients with Alzheimer disease.
RESULTS: In 22 DNA samples from individuals diagnosed with clinical Alzheimer disease, we identified one patient carrying a duplication on chromosome 21 which included the APP locus. Further mapping of the chromosomal region by array-comparative genome hybridization showed that the duplication spanned a maximal region of 1.09 Mb.
CONCLUSIONS: This is the first report of an APP duplication in a Swedish Alzheimer patient and describes the use of quantitative real-time PCR as a tool for determining copy-number of the APP locus.
METHODS: We combined the method of microsatellite marker genotyping with a quantitative real-time PCR analysis to detect duplications in patients with Alzheimer disease.
RESULTS: In 22 DNA samples from individuals diagnosed with clinical Alzheimer disease, we identified one patient carrying a duplication on chromosome 21 which included the APP locus. Further mapping of the chromosomal region by array-comparative genome hybridization showed that the duplication spanned a maximal region of 1.09 Mb.
CONCLUSIONS: This is the first report of an APP duplication in a Swedish Alzheimer patient and describes the use of quantitative real-time PCR as a tool for determining copy-number of the APP locus.
Pubmed
Open Access
Yes
Create date
31/10/2013 17:20
Last modification date
20/08/2019 14:10