Study results of new PCR technology that reports mutations associated with FXS announced

Mar 2 2010

Asuragen, Inc. announced today the results of a collaborative study with scientists at the M.I.N.D. Institute at the University of California Davis evaluating a new PCR technology that reproducibly reports mutations associated with Fragile X syndrome (FXS). The study, titled “A novel FMR1 Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome,” was published in Clinical Chemistry, a leading journal for original, peer-reviewed research that advances clinical laboratory practices.

“This novel Fragile X assay further highlights our R&D team’s innovation capabilities in molecular diagnostics.”

FXS is the most common known genetic cause of autism and affects approximately 100,000 individuals in the US. Related disorders, such as Fragile X-associated tremor/ataxia syndrome (FXTAS) and primary ovarian insufficiency (FXPOI), are estimated to impact an additional 1 million people. The Fragile X PCR test that Asuragen has developed can evaluate molecular signatures linked with each of these disorders.

FXS is a trinucleotide repeat disease caused predominantly by the expansion of CGG sequences in the 5’ untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene. Expansions of >200 CGG are associated with FXS, whereas more modest expansions can contribute to FXTAS and FXPOI. “Efficient PCR amplification of the CGG repeat region of FMR1 has been a problem without a definitive solution ever since the molecular etiology of Fragile X syndrome was determined nearly 20 years ago. The FMR1 PCR reagents evaluated in this study amplified Fragile X alleles with as many as 1300 repeats and detected every one of 66 full mutations that were co-detected using the current gold standard method, Southern blot analysis,” commented Dr. Flora Tassone, a leading expert in Fragile X molecular biology and senior author of the study. “Across 146 clinical samples, including those with both expanded and normal alleles, the Fragile X PCR produced results consistent with the reference method, yet the PCR technology provided more accurate repeat quantification, greater detection sensitivity, and the results could be obtained in about 1/10^th the time using about 175 times less DNA sample. This innovative PCR approach has tremendous potential for clinical research into Fragile X biology, and could shift the paradigm for routine Fragile X testing,” added Dr. Paul Hagerman, senior co-author of the study.

The PCR reagents described in this landmark study are now available as a Research Use Only (RUO) kit that is manufactured by Asuragen. “Asuragen is committed to providing world class technologies that advance molecular testing in emerging, high need areas, such as Fragile X and autism,” said CEO and CSO Dr. Matt Winkler. “This novel Fragile X assay further highlights our R&D team’s innovation capabilities in molecular diagnostics.”