Complete analysis of the presenilin 1 gene in early onset Alzheimerʼs disease
Mike Hutton(Washington University in St. Louis), Frances Busfield(Washington University in St. Louis), Michelle Wragg(Washington University in St. Louis), Richard Crook(Washington University in St. Louis), Jordi Pérez‐Tur(Washington University in St. Louis), Robert Clark(Washington University in St. Louis), Guy Prihar(Washington University in St. Louis), Helen M. Phillips(Washington University in St. Louis), Kristal Wright(Washington University in St. Louis), Matt Baker(Washington University in St. Louis), Corinne Lendon(Washington University in St. Louis), Karen Duff(Washington University in St. Louis), Alonso Martínez(Washington University in St. Louis), Henry Houlden(Washington University in St. Louis), Andy Nichols(Washington University in St. Louis), Eric Karran(Washington University in St. Louis), Gareth W. Roberts(Washington University in St. Louis), Penelope Roques(Washington University in St. Louis), Martin N. Rossor(Washington University in St. Louis), J. Craig Venter(Washington University in St. Louis), Mark D. Adams(Washington University in St. Louis), Robin T. Cline(Washington University in St. Louis), Cheryl A. Phillips(Washington University in St. Louis), Rebecca Fuldner(Washington University in St. Louis), John Hardy(Washington University in St. Louis), Alison Goate(Washington University in St. Louis)
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Abstract
The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families. This strategy has enabled us to find a further two novel mutations in the gene. We discuss the distribution of mutations and the proportions of autosomal dominant AD with a mean age of onset below 60 years caused by mutations in this gene.
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