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Missense mutation in exon 11 (codon 378) of the presenilin‐1 gene in a French family with early‐onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification
Author(s) -
Besançon Roger,
Lorenzi Alberta,
Cruts Marc,
Radawiec Sandrine,
Sturtz Franck,
Broussolle Emmanuel,
Chazot Guy,
Broeckhoven Christine Van,
Chamba Geneviève,
Vandenberghe Antoon
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:6<481::aid-humu13>3.0.co;2-n
Subject(s) - missense mutation , genetics , biology , exon , allele , point mutation , single strand conformation polymorphism , mutation , gene , coding region , silent mutation , presenilin , microbiology and biotechnology , alzheimer's disease , disease , medicine , pathology
Mutations in the presenilin‐1 (PS1) gene account for the majority of familial early‐onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients in the pedigree showed a missense mutation in exon 11 of the PS1 gene involving a transition of G to A, altering glycine to glutamate at codon 378. The cosegregation of the mutation with EOAD in the family was studied by allele specific amplification, enhanced by the introduction of a mismatch at the penultimate position near the 3′ primer end. The mutation has not been described before and is located within the third large cytoplasmic loop and may lead to the appearance of a short additional a‐helix. Hum Mutat 11:481, 1998. © 1998 Wiley‐Liss, Inc.