eGene Inc. has announced that a research article regarding their HDA-GT12™ was published in Clinical Chemistry's March 2006 issue titled "Determination of SMN1/SMN2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and MALDI-TOF Mass Spectrometry." (Clin Chem. 2006; 52: 361-369)
It demonstrates HDA-GT12™ is used in the process to determine the gene dosage that causes Spinal Muscular Atrophy (SMA).
eGene claims that, this development of new molecular tools will favor a detection method and may be widely applicable in the clinical setting for diagnostics genotyping.
The complementary assays were evaluated in confirmed cases including nine affected patients, 33 carriers and 478 healthy individuals from the general population.
The researchers were able to determine all genotypes with different SMN1/SMN2 gene copy number ratios, which diagnosed carrier status and the severity of SMA with 100 percent specificity.
Dr. Ming Liu said, "Because this disease 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."
"We were able to show in this research that through the use of our system along with a type of mass spectrometry, we could determine all genotypes with different SMN1/SMN2 gene copy number ratios, which diagnosed carrier status and the severity of SMA with 100 percent specificity."
"This genotyping platform is suitable for the detection of SMA and offers the potential to be used for molecular diagnosis of other inheritable diseases as well."
A genotyping platform was developed by combining eGene's capillary electrophoresis technology and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to quantify absolute gene dosage, which was determined by a multiplexed competitive PCR protocol followed by use of the eGene HDA-GT12™ genetic analyzer.
The relative SMN1/SMN2 ratio was analyzed by PinPoint assay followed by MALDI-TOF MS results.
The system is designed to analyze genetic fingerprinting of living organisms through microsatellites, AFLP and RFLP.
It performs RNA and oligonucleotide quality checks, as well as fast DNA sample screening, high-resolution DNA fragment analysis (2-5bp) and large DNA fragments analysis (up to 10Kb).
The system also analyzes the quality and quantity of total RNA and cRNA, determines the efficiency of cRNA and cDNA amplification reactions and ensures quality of fragmented cRNA.