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Research shows eGene's HDA-GT12 determines certain genotypes with 100% specificity
By Lisa Kerner
Erie, Pa., March 30 - eGene Inc. said a peer-reviewed research article published in Clinical Chemistry's March 2006 issue demonstrates the use of eGene's HDA-GT12 genetic analyzer in determining the gene dosage that causes Spinal Muscular Atrophy (SMA), a common inherited and fatal neuromuscular disease.
The development of new molecular tools is expected to lead to a viable, cost-effective detection method widely applicable in the clinical setting for diagnostics genotyping, according to a company news release.
SMA has an incidence of at least 1 in 10,000 live births, with a carrier frequency of 1 in 35 to 1 in 50.
Because SMA is caused by deletions and/or mutations that lead to altered concentrations of proteins encoded by the survival motor neuron genes SMN1 and SMN2, precise quantification of SMN1 and SMN2 gene copy numbers is essential for diagnosis and genetic counseling, officials said.
Complementary assays were evaluated in nine affected patients, 33 carriers and 478 healthy individuals from the general population.
Researchers were able to determine all genotypes with different SMN1/SMN2 gene copy number ratios, diagnosing carrier status and the disease severity with 100% specificity, eGene said.
Funding for the research was supported by Academia Sinica, Taiwan, and the National Science Council and National Taiwan University Hospital.
The research article is title "Determination of SMN1/SMN2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and MALDI-TOF Mass Spectrometry."
Based in Irvine, Calif., eGene develops and manufactures low-cost microfluidic, miniaturized digital genetic analyzer systems, software and consumables for biological materials testing.
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