Studies from Stanford University, Department of Pathology update current data on microarray
2007 APR 30 -- A new study, "Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population," is now available. "In the Ashkenazi Jewish population, serious and lethal genetic conditions occur with relatively high frequency. A single test that encompasses the majority of population-specific mutations is not currently available," scientists in the United States report. "For comprehensive carrier screening and molecular diagnostic purposes, we developed a population-specific and inclusive microarray. The arrayed primer extension genotyping microarray carries 59 sequence variant detection sites, of which 53 are detectable bi-directionally. These sites represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen storage disease type 1a, maple syrup urine disease, nonsyndromic sensorineural hearing loss, familial Mediterranean fever, and glycogen storage disease type III. Several mutations in the selected disorders that are not prevalent per se in the Ashkenazi Jewish populations, as well pseudodeficiency alleles, are also included in the array. The initial technical evaluation of this microarray demonstrates that it is comprehensive, robust, sensitive, specific, and easily modifiable," wrote I. Schrijver and colleagues, Stanford University, Department of Pathology. The researchers concluded: "This cost-effective array is based on a diversely applied platform technology and is suitable for both carrier screening and disease detection in Ashkenazi and Sephardic Jewish populations." Schrijver and colleagues published their study in the Journal of Molecular Diagnostics (Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. Journal of Molecular Diagnostics, 2007;9(2):228-36). For more information, contact I. Schrijver, L235, Dept. of Pathology, Stanford University Medical Center, 300 Pasteur Dr., Stanford, CA 94305 USA. Publisher contact information for the Journal of Molecular Diagnostics is: American Society Investigative Pathology, Inc., 9650 Rockville Pike, Bethesda, MD 20814-3993, USA. Keywords: United States, Stanford, Diagnostics, Microarray. This article was prepared by Gastroenterology Week editors from staff and other reports. Copyright 2007, Gastroenterology Week via NewsRx.com.
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