The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

The Alzheimer’s Disease Collaborative Group

Research output: Contribution to journalArticle

429 Scopus citations

Abstract

Genetic linkage studies place a gene causing early onset familial Alzheimer's disease (FAD) on chromosome 14q24.3 (refs 1-4). Five mutations within the S182 (Presenilin 1: Ps-1) gene, which maps to this region, have recently been reported in several early onset FAD kindreds. We have localized the PS-1 gene to a 75 kb region and present the structure of this gene, evidence for alternative splicing and describe six novel mutations in early onset FAD pedigrees all of which alter residues conserved in the STM2 (Presenilin 2: PS-2) gene. We isolated full length cDNA clones for the PS-1 gene.

Original languageEnglish (US)
Pages (from-to)219-222
Number of pages4
JournalNature genetics
Volume11
Issue number2
DOIs
StatePublished - Oct 1995

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families'. Together they form a unique fingerprint.

  • Cite this