ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies
ELISA quantitation of dystrophin for the diagnosis of Duchenne and Becker muscular dystrophies
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ELISA 定量抗肌营养不良蛋白用于诊断杜兴肌营养不良症和贝克肌营养不良症
DOI：
10.1212/wnl.42.3.570
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发表时间：
1992
期刊：
影响因子：
9.9
通讯作者：
L. Kunkel
中科院分区：
文献类型：
--
作者：
T. Byers;P. Neumann;A. Beggs;L. Kunkel
杜氏肌营养不良症患者表达很少或不表达肌营养不良蛋白，而患有较轻贝克尔变异的患者则产生大小或数量改变的肌营养不良蛋白。目前，肌营养不良蛋白通过蛋白质印迹进行评估，但定量很困难，而且大多数临床实验室无法进行该程序。我们描述了一种针对肌营养不良蛋白的酶联免疫吸附测定 (ELISA)，该测定利用羧基末端捕获抗体，并检测跨越分子 65% 的抗体。这种构型对肌营养不良蛋白具有选择性，并减少了由于删除而导致抗原决定簇丢失或移码突变导致的截短产物的存在而导致误诊的可能性。肌营养不良蛋白 ELISA 可将杜氏肌营养不良症患者与患有不相关疾病的患者区分开来，并且可能对贝克尔营养不良症患者具有预后价值。该测定应该被证明是一种易于使用且快速的工具，用于诊断杜兴/贝克尔肌营养不良症以及评估试图引入肌营养不良蛋白或增强其表达的疗法。
Duchenne muscular dystrophy patients express little or no dystrophin, while patients with the milder Becker variant produce dystrophin of altered size or quantity. Dystrophin is currently evaluated on Western blots, but quantitation is difficult and the procedure is not available in most clinical laboratories. We describe an enzyme‐linked immunosorbent assay (ELISA) for dystrophin that utilizes a carboxyl‐terminal capture antibody, and detection antibodies spanning 65% of the molecule. This configuration is selective for dystrophin and reduces the potential for false diagnosis due to loss of antigenic determinants by deletion or the presence of truncated products resulting from frame‐shift muations. The dystrophin ELISA distinguished Duchenne muscular dystrophy patients from those with unrelated disorders and may have prognostic value for patients with Becker dystrophy. This assay should prove to be an accessible and rapid tool for the diagnosis of Duchenne/Becker muscular dystrophies and for evaluating therapies that attempt to introduce dystrophin or augment its expression.