Science · 1992 · 945 citations · 42 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsAlzheimer DiseaseFamily-based Genetic AnalysisGene MappingLinkage AnalysisNeurodegenerative Disease GeneticsPedigree AnalysisAge-dependent PenetranceGene Mapping In FamiliesGene Mapping In PedigreesGenetic Linkage AnalysisGenetic Linkage MappingGenetic Linkage MapsLod Score AnalysisLod Score Calculation
Linkage analysis was used to search the genome for chromosomal regions harboring familial Alzheimer's disease genes. Markers on chromosome 14 gave highly significant positive lod scores in early-onset non-Volga German kindreds; a Zmax of 9.15 (theta = 0.01) was obtained with the marker D14S43 at 14q24.3. One early-onset family yielded a lod score of 4.89 (theta = 0.0). When no assumptions were made about age-dependent penetrance, significant results were still obtained (Zmax = 5.94, theta = 0.0), despite the loss of power to detect linkage under these conditions. Results for the Volga German families were either negative or nonsignificant for markers in this region. Thus, evidence indicates a familial Alzheimer's disease locus on chromosome 14.
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The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21
Peter St George‐Hyslop, Rudolph E. Tanzi, Ronald J. Polinsky et al. · Science · 1987 · 1.2K citations
A mutation in the Amyloid Precursor Protein Associated with Hereditary Alzheimer's Disease
Jill R. Murrell, Martin R. Farlow, Bernardino Ghetti et al. · Science · 1991 · 1.1K citations
Life Sciences, Genetics, Neurology +17