title: A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.
abstract: Although mutations in the beta-amyloid precursor protein gene (APP) on chromosome 21 cause some cases of early-onset Alzheimer's disease (AD), most cases evidently do not have mutations in APP. We analysed ten early-onset families for linkage to APP and markers elsewhere in the genome. One family (F172) was consistent with linkage to chromosome 21 and was subsequently found to have an APP Val to Ile mutation. Of the others, all but one were consistent with linkage to markers in the middle long arm of chromosome 14. However, no family showed independent evidence of linkage with two point analysis and only one showed independent evidence of linkage on multipoint analysis. Therefore, we cannot rule out heterogeneity at these loci although tests for heterogeneity were not significant.
authors.affiliation: Alzheimer's Disease Research Laboratories, University of South Florida, Tampa 33613.
authors.forename: M
authors.initials: M
authors.lastname: Mullan
authors.forename: H
authors.initials: H
authors.lastname: Houlden
authors.forename: M
authors.initials: M
authors.lastname: Windelspecht
authors.forename: L
authors.initials: L
authors.lastname: Fidani
authors.forename: C
authors.initials: C
authors.lastname: Lombardi
authors.forename: P
authors.initials: P
authors.lastname: Diaz
authors.forename: M
authors.initials: M
authors.lastname: Rossor
authors.forename: R
authors.initials: R
authors.lastname: Crook
authors.forename: J
authors.initials: J
authors.lastname: Hardy
authors.forename: K
authors.initials: K
authors.lastname: Duff
mesh_terms: D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D001483:Base Sequence; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D004247:DNA / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D000514:alpha 1-Antichymotrypsin / Q000235:genetics*
chemical_list: D016564:Amyloid beta-Protein Precursor; D005819:Genetic Markers; D000514:alpha 1-Antichymotrypsin; D004247:DNA