© 1995 Oxford University Press
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Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3
Laboratory of Neurogenetics, Born Bunge Foundation, University of Antwerp (UIA), Department of Biochemistry B-2610 Antwerpen, Belgium 1Department of Psychiatry, Washington University School of Medicine St Louis, MO, 63110, USA 2Centre d'Etude du Polymorphisme Humain 27 rue Juliette Dodu, F-75010 Paris 3Généthon, 1 rue de l'Internationale BP60 F-91002 Evry, France 4Laboratory of Neuropathology, Born Bunge Foundation, University of Antwerp (UIA), Department of Medicine B-2610 Antwerpen, Belgium
*To whom correspondence should be addressed
Received February 28, 1995; Revised April 26, 1995; Accepted April 26, 1995
Genetic linkage studies have provided significant evidence that a major gene defect, AD3, for familial early-onset Alzheimer's disease (EOAD) is located at chromosome 14q24.3, between the short tandem repeat (STR) markers D14S52 and D14S53 defining a genetic size of 22.7 cM for the AD3 candidate region. We constructed a physical map of the AD3 region using yeast artificial chromosomes (YACs) selected from both the CEPH and megaCEPH YAC libraries using the AD3 linked STR markers as well as new sequence-tagged sites (STSs) designed based on YAC terminal sequences. The YAC map is contiguous in the region between D14S258 and D14S53, a region of 8.2 cM, and has an estimated physical size of 4–8 Mb. The YAC contig map was used as a framework to localize three known genes, a pseudogene and two brain expressed sequence tags (ESTs). Linkage analysis studies in two Belgian chromosome 14 EOAD families AD/A and AD/B, identified obligate recombinants in family AD/A with D14S289 and D14S61 reducing the genetic size of the candidate AD3 region substantially. The minimal AD3 candidate region measured 6.4 cM on the genetic map and is contained within six overlapping megaCEPH YACs that covered a physical distance estimated between 2 and 6 Mb. These YACs as well as other YACs in the YAC contig map are valuable resources in gene cloning efforts or genomic sequencing experiments aiming at isolating the AD3 gene.
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