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 journalArticle

7 Citations (Scopus)

Abstract

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 (US)
Pages (from-to)731-735
Number of pages5
JournalMuscle and Nerve
Volume37
Issue number6
DOIs
StatePublished - Jun 1 2008

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Alleles
Inbred mdx Mouse
Mutation
Duchenne Muscular Dystrophy
Single Nucleotide Polymorphism
Animal Models
Technology

All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

Cite this

Budowle, S. A., Gonzalez, S., Budowle, B., Eisenberg, A. J., & Grange, R. W. (2008). A novel SNaPshot assay to detect the mdx mutation. Muscle and Nerve, 37(6), 731-735. https://doi.org/10.1002/mus.21027
Budowle, Sarah A. ; Gonzalez, Suzanne ; Budowle, Bruce ; Eisenberg, Arthur J. ; Grange, Robert W. / A novel SNaPshot assay to detect the mdx mutation. In: Muscle and Nerve. 2008 ; Vol. 37, No. 6. pp. 731-735.
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Budowle, SA, Gonzalez, S, Budowle, B, Eisenberg, AJ & Grange, RW 2008, 'A novel SNaPshot assay to detect the mdx mutation', Muscle and Nerve, vol. 37, no. 6, pp. 731-735. https://doi.org/10.1002/mus.21027

A novel SNaPshot assay to detect the mdx mutation. / Budowle, Sarah A.; Gonzalez, Suzanne; Budowle, Bruce; Eisenberg, Arthur J.; Grange, Robert W.

In: Muscle and Nerve, Vol. 37, No. 6, 01.06.2008, p. 731-735.

Research output: Contribution to journalArticle

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Budowle SA, Gonzalez S, Budowle B, Eisenberg AJ, Grange RW. A novel SNaPshot assay to detect the mdx mutation. Muscle and Nerve. 2008 Jun 1;37(6):731-735. https://doi.org/10.1002/mus.21027