title: Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation.
abstract: To date, eleven independent FAD pedigrees with the 717Val-->Ile mutation have been identified. Interestingly, five pedigrees were of Japanese origin and four were of British origin. The apparent ethnic prediction of this mutation raises the possibility that there is a founder effect in these two island nations. We did not observe any significant linkage disequilibrium in any locus of APP and GT12 loci in the five Japanese FAD pedigrees with the 717Val-->Ile mutation. A founder effect would probably not be present in Japanese FAD pedgrees with the 717Val-->Ile mutation.
authors.affiliation: Department of Neurology, Niigata University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Naruse
authors.forename: K
authors.initials: K
authors.lastname: Seki
authors.forename: O
authors.initials: O
authors.lastname: Onodera
authors.forename: H
authors.initials: H
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Miyatake
authors.forename: A
authors.initials: A
authors.lastname: Shibata
authors.forename: Y
authors.initials: Y
authors.lastname: Sakaki
authors.forename: K
authors.initials: K
authors.lastname: Kamino
authors.forename: T
authors.initials: T
authors.lastname: Miki
mesh_terms: D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D007564:Japan; D015810:Linkage Disequilibrium; D009154:Mutation; D011110:Polymorphism, Genetic; D014633:Valine / Q000235:genetics*
chemical_list: D016564:Amyloid beta-Protein Precursor; D007532:Isoleucine; D014633:Valine