title: The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
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.
mesh_terms: D000367:Age Factors; D017668:Age of Onset; D017398:Alternative Splicing; D000544:Alzheimer Disease / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D017931:DNA Primers; D005091:Exons; D005190:Family; D008040:Genetic Linkage; D015698:Genomic Library; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D053764:Presenilin-1
chemical_list: D017931:DNA Primers; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1