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

Bayrakli F., Bilguvar K., Mason C. E., DiLuna M. L., Bayri Y., Gungor L., ...More

HUMAN MUTATION, vol.28, no.12, pp.1236-1240, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 28 Issue: 12
  • Publication Date: 2007
  • Doi Number: 10.1002/humu.20592
  • Journal Name: HUMAN MUTATION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1236-1240
  • Keywords: array, CGH, CNV, mutation, deletion, PARKIN, PARK2, HIGH-RESOLUTION ANALYSIS, GENOMIC INSTABILITY, PARKIN, BREAKPOINTS, FORM
  • Ondokuz Mayıs University Affiliated: Yes

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. (c) 2007 Wiley-Liss, Inc.