A novel SNaPshot assay to detect the mdx mutation

被引：8

作者：

Budowle, Sarah A. ^{[1
]}

Gonzalez, Suzanne ^{[2
,3
]}

Budowle, Bruce ^{[4
]}

Eisenberg, Arthur J. ^{[2
,3
]}

Grange, Robert W. ^{[1
]}

机构：

[1] Virginia Polytech Inst & State Univ, Dept Human Nutr Food & Exercise, Blacksburg, VA 24061 USA

[2] Univ N Texas, Hlth Sci Ctr, Dept Pathol & Human Identificat, Ft Worth, TX USA

[3] Univ N Texas, Hlth Sci Ctr, Dept Cell Biol & Genet, Ft Worth, TX USA

[4] Fed Bur Invest Acad, Lab Div, Quantico, VA USA

来源：

MUSCLE & NERVE | 2008年 / 37卷 / 06期

关键词：

ARMS; DMD; mdx; mini-sequencing; SNaPshot;

D O I：

10.1002/mus.21027

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：731 / 735

页数：5

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