Genetics and Alzheimer’s Disease pp 109-115 | Cite as
Molecular Genetic Strategies in Familial Alzheimer’s Disease: Theoretical and Practical Considerations
Conference paper
Summary
Genetic linkage studies have provided evidence to indicate that there is a defective gene on chromosome 21 which causes the autosomal dominant form of Alzheimer’s disease (AD), at least in the four large pedigrees examined. Further studies have indicated that the β-amyloid gene and the superoxide dismutase-1 gene are not the site of the familial AD (FAD) mutation, and that duplication of large regions of chromosome 21 is not the pathogenetic mechanism in either FAD or sporadic AD. Additional studies are currently under way to more precisely map the location of the FAD gene in order to expedite the ultimate goal of isolating and characterizing the actual FAD gene.
Keywords
Down Syndrome Genetic Linkage Analysis Large Pedigree Autosomal Dominant Form Genetic Linkage Study
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