Journal
ANALYTICAL BIOCHEMISTRY
Volume 386, Issue 2, Pages 288-290Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ab.2008.11.040
Keywords
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Funding
- National Institutes of Health (NIH) [NS26630, NS36768, MH080647]
- Hussman Foundation
- Austin Genome Project (AGP)
- Autism Speaks
- Duke University
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The recent implication of genomic copy number variations (CNVs) in multiple human genetic disorders has led to increased interest in CNV discovery technologies. There is a growing consensus that, in addition to the method used for detection, at least one additional technology should be employed for validation. Real-time quantitative polymerase chain reaction (qPCR) analysis, incorporating a normal (2N) copy number standard, is commonly used as a means of validating CNVs. Whereas it has previously been reported that formalin-fixed paraffin-embedded (FFPE) DNA samples can yield spurious CNV calls in real-time qPCR assays, here we report that sample degradation under standard laboratory storage conditions generates a significant increase in false-positive CNV results. Results suggest the possibility of biased degradation among genomic regions and emphasize the need to assess sample integrity immediately prior to real-time qPCR experiments. (C) 2009 Elsevier Inc. All rights reserved.
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