title: Screening for presenilin-1 gene mutations by PCR-SSCP analysis in patients with early-onset Alzheimer's disease.
abstract: The majority of early-onset familial Alzheimer's disease (EOAD) has been associated with mutations in a novel gene on chromosome 14 which has been termed presenilin-1 gene. We screened for mutations within the presenilin-1 gene in twenty patients with EOAD using a PCR-SSCP analysis. We found three aberrant (mutant?) band patterns for exons 4 and 7 in three unrelated patients.
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Poznań.
authors.forename: A
authors.initials: A
authors.lastname: Kowalska
authors.forename: J
authors.initials: J
authors.lastname: Florczak
authors.forename: D
authors.initials: D
authors.lastname: Pruchnik-Wolińska
authors.forename: H
authors.initials: H
authors.lastname: Hertmanowska
authors.forename: M
authors.initials: M
authors.lastname: Wender
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000032:analysis / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D053764:Presenilin-1
chemical_list: D001057:Apolipoproteins E; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1