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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. A novel mutation in the beta-protein coding region of the amyloid beta-protein precursor (APP) gene. Balbín, M., Abrahamson, M., Gustafson, L., Nilsson, K., Brun, A., Grubb, A. Hum. Genet. (1992) [Pubmed]
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