title: Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?
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.
authors.affiliation: INSERM, Unité 155, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Martinez
authors.forename: D
authors.initials: D
authors.lastname: Campion
authors.forename: M C
authors.initials: MC
authors.lastname: Babron
authors.forename: F
authors.initials: F
authors.lastname: Clerget-Darpoux
mesh_terms: D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics*; D001900:Boston / Q000453:epidemiology; D002891:Chromosomes, Human, Pair 21; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D005819:Genetic Markers; D014644:Genetic Variation; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D005819:Genetic Markers