Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)? | Zendy

Martinez Maria | Zendy; Campion Dominique | Zendy; Babron MarieClaude | Zendy; ClergetDarpoux Françoise | Zendy

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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.

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