Abstract
Germline mutations in the presenilin 1 (PS1) gene apparently account for the majority of early-onset, familial Alzheimer’s disease (AD). Using a mutation-screening strategy (denaturing gradient gel electrophoresis; DGGE), we analyzed a large family with early onset AD and seizures. The patients in this family showed a novel missense mutation in exon 5 of the PS1 gene (A to T change in codon 120, altering glutamine to aspartic acid). This novel mutation is located within the second hydrophilic domain of the molecule, a region not particularly involved in previously described germline mutations, and is of unknown biological significance. These results also demonstrate that DGGE can be used effectively to screen for mutations within this gene.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: 3 July 1996 / Revised: 29 July 1996
Rights and permissions
About this article
Cite this article
Reznik-Wolf, H., Treves, T., Davidson, M. et al. A novel mutation of presenilin 1 in familial Alzheimer’s disease in Israel detected by denaturing gradient gel electrophoresis. Hum Genet 98, 700–702 (1996). https://doi.org/10.1007/s004390050288
Issue Date:
DOI: https://doi.org/10.1007/s004390050288