title: Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.
abstract: The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families. This strategy has enabled us to find a further two novel mutations in the gene. We discuss the distribution of mutations and the proportions of autosomal dominant AD with a mean age of onset below 60 years caused by mutations in this gene.
authors: Department of Psychiatry, University of South Florida, Tampa 33613, USA.
authors: M
authors: M
authors: Hutton
authors: F
authors: F
authors: Busfield
authors: M
authors: M
authors: Wragg
authors: R
authors: R
authors: Crook
authors: J
authors: J
authors: Perez-Tur
authors: R F
authors: RF
authors: Clark
authors: G
authors: G
authors: Prihar
authors: C
authors: C
authors: Talbot
authors: H
authors: H
authors: Phillips
authors: K
authors: K
authors: Wright
authors: M
authors: M
authors: Baker
authors: C
authors: C
authors: Lendon
authors: K
authors: K
authors: Duff
authors: A
authors: A
authors: Martinez
authors: H
authors: H
authors: Houlden
authors: A
authors: A
authors: Nichols
authors: E
authors: E
authors: Karran
authors: G
authors: G
authors: Roberts
authors: P
authors: P
authors: Roques
authors: M
authors: M
authors: Rossor
authors: J C
authors: JC
authors: Venter
authors: M D
authors: MD
authors: Adams
authors: R T
authors: RT
authors: Cline
authors: C A
authors: CA
authors: Phillips
authors: A
authors: A
authors: Goate
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D016000:Cluster Analysis; D017931:DNA Primers; D005091:Exons / Q000502:physiology; D008040:Genetic Linkage; D016678:Genome; D006801:Humans; D007494:Ireland; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D016366:Open Reading Frames; D053764:Presenilin-1; D006113:United Kingdom
chemical_list: D017931:DNA Primers; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1