Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
Détails
Etat: Public
Version: de l'auteur⸱e
ID Serval
serval:BIB_2B21B4515D23
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient.
Périodique
BMC Research Notes
ISSN
1756-0500 (Electronic)
ISSN-L
1756-0500
Statut éditorial
Publié
Date de publication
2011
Volume
4
Numéro
476
Pages
1-9
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: epublish. PDF type: research article
Résumé
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
Oui
Création de la notice
31/10/2013 17:20
Dernière modification de la notice
20/08/2019 14:10