DIAN genotyping was performed by the DIAN Genetics Core at Washington University22 (link). The presence or absence of ADAD mutation was determined using PCR-based amplification of the appropriate exon followed by Sanger sequencing. APOE genotype was determined using an ABI predesigned real-time Taqman assay (C___3084793_20 and C____904973_10 for rs429358 and rs7412 variants, respectively). APOE genotype in PREVENT-AD was determined using the PyroMark Q96 pyrosequencer (Qiagen, Toronto, Canada) and the following primers: rs429358_amplification_forward 5′-ACGGCTGTCCAAGGAGCTG-3′, rs429358_amplification_reverse_biotinylated 5′-CACCTCGCCGCGGTACTG-3′, rs429358_sequencing 5′-CGGACATGGAGGACG-3′, rs7412_amplification_forward 5′-CTCCGCGATGCCGATGAC-3′, rs7412_amplification_reverse_biotinylated 5′-CCCCGGCCTGGTACACTG-3′ and rs7412_sequencing 5′-CGATGACCTGCAGAAG-3′. The full list of primers is provided in Supplementary Tables 3 and 4.
Other organizations :
Brigham and Women's Hospital, Massachusetts General Hospital, Hertie Institute for Clinical Brain Research, University of Tübingen, Ludwig-Maximilians-Universität München, German Center for Neurodegenerative Diseases, Munich Cluster for Systems Neurology, Butler Hospital, Indiana University – Purdue University Indianapolis, Montreal Neurological Institute and Hospital, University of California, San Francisco, UC San Diego Health System, Mayo Clinic in Florida, University of California, Berkeley, California University of Pennsylvania, LAC+USC Medical Center, University of California, Davis, Harvard University, Indiana University Bloomington, Washington University in St. Louis, University of Pennsylvania, Janssen (United States), University of Washington, University College London, University of Michigan–Ann Arbor, University of Utah, University of Pittsburgh, Philadelphia University, University of California, Irvine, Alzheimer's Association, General Electric (United States), Brown University, National Institute on Aging, National Institutes of Health, Oregon Health & Science University, University of Southern California, University of California, San Diego, Baylor College of Medicine, Columbia University Irving Medical Center, University of Alabama at Birmingham, Icahn School of Medicine at Mount Sinai, Rush University Medical Center, Johns Hopkins University, New York University, Duke Medical Center, University of Kentucky, University of Rochester Medical Center, The University of Texas Southwestern Medical Center, Emory University, University of Kansas Medical Center, University of California, Los Angeles, WinnMed, Yale University, Sunnybrook Health Science Centre, University of British Columbia Hospital, St Joseph's Health Centre, Lou Ruvo Brain Institute, Cleveland Clinic, Northwestern University, Premiere Research Institute, Palm Beach Neurology, Georgetown University Medical Center, Georgetown University, Stanford University, Banner Sun Health Research Institute, Howard University, Case Western Reserve University, Beaumont Hospital, Dearborn, University of Wisconsin–Madison, Dent Neurologic Institute, The Ohio State University, Albany Medical Center Hospital, Hartford Hospital, Dartmouth–Hitchcock Medical Center, Wake Forest University, Rhode Island Hospital, Medical University of South Carolina, St Joseph's Health Care, Nathan Kline Institute for Psychiatric Research, University of Iowa, Cornell University, USF Health Byrd Alzheimer's Institute, University of South Florida, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia, Neuroscience Research Australia, Osaka City University, Edith Cowan University, Columbia University, Niigata University, Hirosaki University, Asan Medical Center, University of Melbourne, Institut Universitaire de Gériatrie de Montréal, Université de Montréal, McGill University Health Centre
Positive control: PCR-based amplification of appropriate exon followed by Sanger sequencing for ADAD mutation detection
Negative control: Not explicitly mentioned
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