A novel SNaPshot assay to detect the mdx mutation

Sarah A. Budowle, Suzanne Gonzalez, Bruce Budowle, Arthur J. Eisenberg, Robert W. Grange

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


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.

Original languageEnglish
Pages (from-to)731-735
Number of pages5
JournalMuscle and Nerve
Issue number6
StatePublished - Jun 2008


  • ARMS
  • DMD
  • Mini-sequencing
  • SNaPshot
  • mdx


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