MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

Autor: Varga RE; Department of Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Jena, Germany., Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C
Jazyk: angličtina
Zdroj: Analytical biochemistry [Anal Biochem] 2012 Feb 15; Vol. 421 (2), pp. 799-801. Date of Electronic Publication: 2011 Dec 09.
DOI: 10.1016/j.ab.2011.12.002
Abstrakt: Multiplex ligation-dependent probe amplification (MLPA) has become a standard method for identifying copy number mutations in diagnostic and research settings. The occurrence of false-positive deletion findings and the underlying causes are well recognized, whereas false-positive duplication/amplification findings have not been appreciated so far. We here present three pertinent cases which were only identified on extended, nonstandard secondary analyses. We also offer and experimentally validate a potential explanation. Our findings imply that MLPA data indicating gain of genomic sequence require validation on an independent sample or by an independent method.
(Copyright © 2011 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: