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Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?
Author(s) -
Martinez Maria,
Campion Dominique,
Babron MarieClaude,
ClergetDarpoux Françoise
Publication year - 1993
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/gepi.1370100617
Subject(s) - genetics , locus (genetics) , biology , genetic linkage , mutation , chromosome , linkage (software) , gene
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. © 1993 Wiley‐Liss, Inc.