Muscular Dystrophy Research Today is a free monthly online journal that collates and summarizes the latest research about Muscular Dystrophy, including details on duchenne muscular dystrophy, symptoms, treatment.

A novel SNaPshot assay to detect the mdx mutation.

Budowle SA, Gonzalez S, Budowle B, Eisenberg AJ, Grange RW

Department of Human Nutrition, Food and Exercise, Virginia Polytechnic Institute and State University, Blacksburg, Virginia 24061, USA. sbudowle@vt.edu

The mdx mouse is an animal model for Duchenne muscular dystrophy (DMD). In order to evaluate possible treatments and to carry out genetic studies, it is essential to distinguish between mice that carry the dystrophic (mutant) or wild-type (wt) allele(s). The current amplification-resistant mutation system (ARMS) assay is labor intensive and yields false negatives, which reduces its efficiency as a screening tool. An alternate assay based on single-nucleotide polymorphism (SNP) primer extension technology (i.e., SNaPshot) is described. The SNaPshot assay has been optimized to identify both wild-type and mutant alleles, providing a robust, potentially automatable assay for high-throughput analysis.

Published 2 June 2008 in Muscle Nerve, 37(6): 731-5.
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