Germline mutational analysis of presenilin 1 and APP genes in Jewish Israeli individuals with familial or early onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE)

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

Research output: Contribution to journalArticlepeer-review

Abstract

Germ line mutations in three genes have been detected in patients with familial Alzheimer's disease (FAD) and sporadic, early onset disease: amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2). The relative proportions in which mutations in these genes occur among AD patients in Israel has not been evaluated. To that end, we screened 52 Jewish-Israeli patients with AD:22 with sporadic, early-onset disease (below 65 years), and 30 with FAD. Mutation screen employed denaturing gradient gel electrophoresis (DGGE) of exon-specific PCRs and restriction enzyme digest. Five patients from three different families displayed mutations within the PS-1 gene: three patients of one family showed a mis-sense mutation in codon 120 (Glu 120 Lys), and two other unrelated patients showed an identical mis-sense mutation in codon 318 (Glu318Gly). No patient showed an abnormal migration on DGGE (for APP) or mutant restriction digest pattern (for PS-2) genes. These data may indicate the existence of another familial Alzheimer disease (FAD) gene locus in the Israeli Jewish population.

Original languageEnglish
Pages (from-to)176-180
Number of pages5
JournalEuropean Journal of Human Genetics
Volume6
Issue number2
DOIs
StatePublished - 1998
Externally publishedYes

Keywords

  • Alzheimer's disease
  • Genetic predisposition
  • Mutation analysis

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