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, Paul J Hagerman

Research output: Contribution to journalArticlepeer-review

51 Scopus citations


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 (lateonset 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.

Original languageEnglish (US)
Pages (from-to)281-289
Number of pages9
JournalJournal of Molecular Diagnostics
Issue number4
StatePublished - Jul 2009

ASJC Scopus subject areas

  • Molecular Medicine
  • Pathology and Forensic Medicine


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