title: [The search for a mutation in the gene coding the beta-amyloid protein precursor gene in patients with Alzheimer-type dementias].
abstract: Missence mutation in codon 717 of the amyloid precursor protein (APP) gene that codes for the precursor to the beta-protein found in the amyloid deposits of Alzheimer disease was recently shown to be segregated with this disease in some kindreds. The following study aimed to determine the frequency of the codon 717 mutation in familial and "sporadic" cases of dementia of the Alzheimer type has been performed in Russian patients. 62 patients with senile dementia and the Alzheimer disease with early and late onset and 43 normal controls were tested for this mutation. None of them were positive. Thus this mutation is considered to be rare in studied population though in some cases it may be the cause of the disease.
authors.forename: V E
authors.initials: VE
authors.lastname: Golimbet
authors.forename: I V
authors.initials: IV
authors.lastname: Ovchinnikov
authors.forename: N I
authors.initials: NI
authors.lastname: Voskresenskaia
authors.forename: Iu B
authors.initials: IuB
authors.lastname: Iurov
authors.forename: E I
authors.initials: EI
authors.lastname: Rogaev
authors.forename: O A
authors.initials: OA
authors.lastname: Doronina
authors.forename: I V
authors.initials: IV
authors.lastname: Maksunova
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D003704:Dementia / Q000235:genetics*; D004198:Disease Susceptibility; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D016564:Amyloid beta-Protein Precursor; D003062:Codon
vernacular_title: Poisk mutatsii v gene, kodiruiushchem belok-predshestvennik beta-amiloida, u bol'nykh dementsiiami Al'tsgeĭmerovskogo tipa.