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Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?
M Martinez1, D Campion, M C Babron
1INSERM, Unité 155, Paris, France.
Genetic Epidemiology
|January 1, 1993
Abstract:
Analysis of marker segregation in the large Alzheimer pedigree, FAD4, leads to the conclusion, with a type I error of 5%, of linkage heterogeneity between two branches of the pedigree: the disease cosegregates with chromosome 21 markers flanking the APP area in one branch and not in the other one. Thus, we conclude that a single mutation in the chromosome 21 region surrounding APP cannot be responsible for all the affected cases in this pedigree.