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Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient by Håkan Thonberg; Marie Fallström; Jenny Björkström; Jacqueline Schoumans; Inger Nennesmo; Caroline Graff is a Medicine article available to read on EtoBox.

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## 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-num

Who reads Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient?

Author

Håkan Thonberg; Marie Fallström; Jenny Björkström; Jacqueline Schoumans; Inger Nennesmo; Caroline Graff

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: Biomed Central, 2008-; Publons; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 1756-0500)

Published

2011

Language

EN

Field

Medicine (Health Sciences)