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Hum Mutat. 2007 Dec;28(12):1236-40.

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

Author information

1
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.

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.

PMID:
17676595
DOI:
10.1002/humu.20592
[Indexed for MEDLINE]

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