SEARCH

SEARCH BY CITATION

Keywords:

  • array;
  • CGH;
  • CNV;
  • mutation;
  • deletion;
  • PARKIN;
  • PARK2

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.