A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis

Haike Reznik-Wolf, Therese A. Treves, Michael Davidson, Judith Aharon-Peretz, Peter H. St. George Hyslop, Joab Chapman, Amos D. Korczyn, Boleslaw Goldman, Eitan Friedman

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)700-702
Number of pages3
JournalHuman Genetics
Volume98
Issue number6
DOIs
StatePublished - Dec 1996
Externally publishedYes

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