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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).
Eur J Hum Genet. 1998 Mar-Apr; 6(2):176-80.EJ

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 120Lys), 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.

Authors+Show Affiliations

Institute of Genetics, Elias Sourasky Medical Center, Tel-Aviv, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9781063

Citation

Reznik-Wolf, H, et al. "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)." European Journal of Human Genetics : EJHG, vol. 6, no. 2, 1998, pp. 176-80.
Reznik-Wolf H, Treves TA, Shabtai H, et al. 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). Eur J Hum Genet. 1998;6(2):176-80.
Reznik-Wolf, H., Treves, T. A., Shabtai, H., Aharon-Peretz, J., Chapman, J., Davidson, M., Barkai, G., Hyslop, P. H., Goldman, B., Korczyn, A. D., & Friedman, E. (1998). 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). European Journal of Human Genetics : EJHG, 6(2), 176-80.
Reznik-Wolf H, et al. 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). Eur J Hum Genet. 1998 Mar-Apr;6(2):176-80. PubMed PMID: 9781063.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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). AU - Reznik-Wolf,H, AU - Treves,T A, AU - Shabtai,H, AU - Aharon-Peretz,J, AU - Chapman,J, AU - Davidson,M, AU - Barkai,G, AU - Hyslop,P H, AU - Goldman,B, AU - Korczyn,A D, AU - Friedman,E, PY - 1998/10/22/pubmed PY - 1998/10/22/medline PY - 1998/10/22/entrez SP - 176 EP - 80 JF - European journal of human genetics : EJHG JO - Eur. J. Hum. Genet. VL - 6 IS - 2 N2 - 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 120Lys), 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. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/9781063/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__ L2 - http://dx.doi.org/10.1038/sj.ejhg.5200160 DB - PRIME DP - Unbound Medicine ER -