Published online before print May 21, 2009

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Journal of Molecular Diagnostics 2009, Vol. 11, No. 4
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.080118

Technical Advances

A Quantitative ELISA Assay for the Fragile X Mental Retardation 1 Protein

Christine Iwahashi^*, Flora Tassone^*, Randi J. Hagerman, Dag Yasui^*, George Parrott, Danh Nguyen^¶, Greg Mayeur^* and Paul J. Hagerman^*

From the Department of Biochemistry and Molecular Medicine, * School of Medicine, University of California Davis, Davis; the Medical Investigation of Neurodevelopmental Disorders Institute, and the Department of Pediatrics, University of California Davis Health System, Sacramento; the Department of Psychology, California State University, Sacramento; and the Division of Biostatistics, ^¶ Department of Public Health Sciences, University of California Davis, Davis California

Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency. While reliable and quantitative assays for the number of CGG repeats and FMR1 mRNA levels are now available, there has been no scalable, quantitative assay for the FMR1 protein (FMRP) in non-transformed cells. Using a combination of avian and murine antibodies to FMRP, we developed a sensitive and highly specific sandwich enzyme-linked immunosorbent assay (ELISA) for FMRP in peripheral blood lymphocytes. This ELISA method is capable of quantifying FMRP levels throughout the biologically relevant range of protein concentrations and is specific for the intact FMRP protein. Moreover, the ELISA is well-suited for replicate protein determinations across serial dilutions in non-transformed cells and is readily scalable for large sample numbers. The FMRP ELISA is potentially a powerful tool in expanding our understanding of the relationship between FMRP levels and the various FMR1-associated clinical phenotypes.

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