| Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes. | |
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MedLine Citation:
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PMID: 21280150 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Many human syndromes involve a loss of imprinting (LOI) due to a loss (LOM) or a gain of DNA methylation (GOM). Most LOI occur as mosaics and can therefore be difficult to detect with conventional methods. The human imprinted 11p15 region is crucial for the control of fetal growth, and LOI at this locus is associated with two clinical disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS), characterized by fetal overgrowth and a high risk of tumors, and Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth restriction. Until recently, we have been using Southern blotting for the diagnosis of RSS and BWS. We describe here a powerful quantitative technique, allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), for the diagnosis of these two complex disorders. We first checked the specificity of the probes and primers used for ASMM RTQ-PCR. We then carried out statistical validation for this method, on both retrospective and prospective populations of patients. This analysis demonstrated that ASMM RTQ-PCR is more sensitive than Southern blotting for detecting low degree of LOI. Moreover, ASMM RTQ-PCR is a very rapid, reliable, simple, safe, and cost effective method. Hum Mutat 32:249-258, 2011. © 2011 Wiley-Liss, Inc. |
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Authors:
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Salah Azzi; Virginie Steunou; Alexandra Rousseau; Sylvie Rossignol; Nathalie Thibaud; Fabienne Danton; Marilyne Le Jule; Christine Gicquel; Yves Le Bouc; Irène Netchine |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Human mutation Volume: 32 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
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Languages: eng Pagination: 249-58 Citation Subset: IM |
Copyright Information:
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© 2011 Wiley-Liss, Inc. |
Affiliation:
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APHP, Hôpital Armand Trousseau, Laboratoire d'Explorations Fonctionnelles Endocriniennes; INSERM UMR-S938 Team 4; Université Pierre et Marie Curie-Paris 6, Paris, France. |
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