Communicated by Jing Cheng
Article first published online: 3 AUG 2007
© 2007 Wiley-Liss, Inc.
Volume 28, Issue 12, pages 1236–1240, December 2007
How to Cite
Bayrakli, F., Bilguvar, K., Mason, C. E., DiLuna, M. L., Bayri, Y., Gungor, L., Terzi, M., Mane, S. M., Lifton, R. P., State, M. W. and Gunel, M. (2007), Rapid identification of disease-causing mutations using copy number analysis within linkage intervals. Hum. Mutat., 28: 1236–1240. doi: 10.1002/humu.20592
Fatih Bayrakli, Kaya Bilguvar, and Christopher E. Mason contributed equally to this manuscript.
- Issue published online: 13 NOV 2007
- Article first published online: 3 AUG 2007
- Manuscript Accepted: 30 MAY 2007
- Manuscript Received: 19 FEB 2007
- Program on Neurogenetics at the Yale University School of Medicine
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.