Molecular diagnosis of Alzheimer Disease.

摘要

A method for diagnosing Alzheimer Disease or a predisposition to develop Alheimer Disease in an individual, by determining the presence of an alteration in the normal base sequence of the 24 base pairs appearing at the end of the APC coding sequence of the preAPC gene, or in the normal base sequence of the corresponding mRNA, in the DNA or RNA or such individual. The method detects the presence of a frameshift mutation in the preAPC gene postulated to result in the synthesis of the APC protein. Accumulation of APC protein in the brain is a phenomenon of Alzheimer Disease. A variety of nucleic acid hybridization techniques are applicable to the determination of an alteration in the preAPC gene sequence of interest.