Summary
A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid β-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.
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Balbín, M., Abrahamson, M., Gustafson, L. et al. A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene. Hum Genet 89, 580–582 (1992). https://doi.org/10.1007/BF00219191
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DOI: https://doi.org/10.1007/BF00219191