Assay allows for detection of expanded alleles and full mutations
AUSTIN, Texas–(Business Wire)–
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.
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 1/10th 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.”
About Asuragen
Asuragen is a fully integrated diagnostic development company and pharmaceutical
services provider. The Company`s diagnostic product portfolio consists of the
first-ever validated microRNA diagnostic assay for pancreatic cancer,
quantitative RNA tests for leukemia gene translocations, and the Signature
Oncology and Genetic Testing products. Asuragen is empowered with a high level
of scientific expertise and assay development capabilities, CLIA and GLP testing
services, and an established cGMP manufacturing facility, which allow it to span
the spectrum of discovery, testing, production and commercialization. For more
information, visit www.asuragen.com.
* For Research Use Only. Not For Use in Diagnostic Procedures.
Asuragen
Rollie Carlson, 512-681-5200
President
rcarlson@asuragen.com
Copyright Business Wire 2010
