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A novel SNaPshot assay to detect the mdx mutation
Author(s) -
Budowle Sarah A.,
Gonzalez Suzanne,
Budowle Bruce,
Eisenberg Arthur J.,
Grange Robert W.
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21027
Subject(s) - duchenne muscular dystrophy , mdx mouse , snapshot (computer storage) , genetics , biology , allele , snp , primer extension , mutant , single nucleotide polymorphism , microbiology and biotechnology , computational biology , genotype , dystrophin , nucleotide , gene , computer science , operating system
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. Muscle Nerve 37: 731–735, 2008