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Identification of polymorphic sites in the CDC2 gene, a possible susceptibility gene for Alzheimer's disease located on chromosome 10

Poster
Authors Annica Johansson
Nenad Bogdanovic
Harald Hampel
Katharina Buerger
Frank Faltraco
Kaj Blennow
Published in The 8th International Conference on Alzheimer's Disease and Related Disorders, Stockholm 20-25 July 2002
Publication year 2002
Published at Institute of Clinical Neurosciences
Institute of Clinical Neurosciences, Section of Psychiatry
Language en
Subject categories Clinical Medicine, Psychiatry

Abstract

The human cdc2, which is required in the mitotic cell cycle, has recently been associated with Alzheimer’s disease (AD). Cdc2 has also been shown to phosphorylate all of tau protein, β-amyloid and amyloid precursor protein (APP) both in vitro and in vivo. Inappropriate activation of cdc2 kinase in differentiated neurons has been suggested to contribute to neuronal dysfunction and degeneration in AD. The cdc2 gene maps to chromosome 10q, which recently has been found to be a susceptibility locus for AD, which makes the cdc2 gene a possible candidate gene for AD. To investigate whether the cdc2 gene contains polymorphic sites we sequenced the promoter region and the seven coding exons and flanking introns in 14 AD cases and 8 controls. We found several variations in the promoter region and three polymorphic sites in the intron between exon 6 and 7, one of these located in the 5’-splice site of exon 6. Data will be presented on the frequency of these polymorphisms in large series of AD patients and controls.

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Utskriftsdatum: 2020-04-02