Rapid identification of disease-causing mutations using copy number analysis within linkage intervals

Authors

  • Fatih Bayrakli,

    1. Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut
    2. Department of Neurobiology Yale University School of Medicine, New Haven, Connecticut
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  • Kaya Bilguvar,

    1. Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut
    2. Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut
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  • Christopher E. Mason,

    1. Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut
    2. Genetics, Yale University School of Medicine, New Haven, Connecticut
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  • Michael L. DiLuna,

    1. Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut
    2. Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut
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  • Yasar Bayri,

    1. Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut
    2. Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut
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  • Levent Gungor,

    1. Department of Neurology, Ondokuz Mayis University School of Medicine, Samsun, Turkey
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  • Murat Terzi,

    1. Department of Neurology, Ondokuz Mayis University School of Medicine, Samsun, Turkey
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  • Shrikant M. Mane,

    1. W.M. Keck Facility, Yale University, New Haven, Connecticut
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  • Richard P. Lifton,

    1. Genetics, Yale University School of Medicine, New Haven, Connecticut
    2. Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut
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  • Matthew W. State,

    1. Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut
    2. Child Study Center, Yale University School of Medicine, New Haven, Connecticut
    3. Genetics, Yale University School of Medicine, New Haven, Connecticut
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  • Murat Gunel

    Corresponding author
    1. Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut
    2. Department of Neurobiology Yale University School of Medicine, New Haven, Connecticut
    3. Program on Neurogenetics, Yale University School of Medicine, New Haven, Connecticut
    • Department of Neurosurgery, TMP4, Yale University School of Medicine, 333 Cedar St, New Haven, CT 06510
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  • Communicated by Jing Cheng

  • Fatih Bayrakli, Kaya Bilguvar, and Christopher E. Mason contributed equally to this manuscript.

Abstract

SNP and comparative genome hybridization arrays (aCGH) are powerful techniques for identifying genome rearrangements, deletions, and duplications. We hypothesized that current array-based detection of copy number variation (CNV) could complement parametric linkage analysis and allow the rapid identification of functional mutations in families with inherited disorders. Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism. Hum Mutat 28(12), 1236–1240, 2007. © 2007 Wiley-Liss, Inc.

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