University of South Florida

Washington University

John A Hardy

Alison M Goate

Karen Duff

A method of detecting polymorphisms in the S182 gene by detecting mutations in the S182 gene using selected mismatched PCR primers comprising sequences derived from intronic sequences of the S182 gene is provided. A method of identifying an individual susceptible to late onset Alzheimer's Disease is also provided.

Method for elucidation and detection of polymorphisms, splice variants,

This invention and relates to polynucleotide and polypeptide sequences of the Early Onset Alzheimer's Disease gene (herein 'EOAD gene'). More particularly, this invention relates to fragments and mutants EOAD gene useful as probes and amplification primers for the identification of a predisposition or diagnosis of Alzheimer's Disease.

Early onset alzheimer's disease gene and gene products

The invention provides novel mutant S182 sequences, methods of diagnosing Alzheimer's disease using these novel mutant S182 genes, a model system for Alzheimer's disease comprising a mutant S182 gene, and methods of identifying mutations in genes homologous to the S182 gene.

Mutant S182 genes

A method of preparing a transgenic animal model with enhanced, accelerated pathology for Alzheimer's Disease (AD) and the transgenic animal made by the method is disclosed. The method includes producing an F.sub.1 generation by crossing a first and second transgenic parent each carrying a different expressible transgene for differing aspects of the same desired phenotype associated with AD pathology. The offspring of the F.sub.1 generation are then screened and those which carry a transgene from each parental transgenic animal resulting in an enhanced pathology for Alzheimer's Disease are selected. In a preferred embodiment the AD-associated pathology is for amyloid accumulation. In an embodiment a mutant presenilin transgene and a transgene for a mutant amyloid precursor protein are used. In a further embodiment the mutant presenilin transgene is the PS1 M146L mutation and the mutant amyloid precursor protein transgene is the Swedish mutation (APP695 isoform containing a K670N,M671L mutation (APP770 numbering)).

Growing community of inventors

St. Augustine, FL, United States of America

John A Hardy