UNITED DYSTROPHINOPATHY PROJECT

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 联合营养不良症项目(UPD)是一项旨在了解dystrophin基因变异如何影响Duchenne肌营养不良症(DMD)、Becker肌营养不良症(BMD)和X连锁心肌病(营养不良症)的临床症状的研究项目。这些研究人员已经开发出一种方法，可以快速、可靠和经济地对dystrophin基因的整个编码和调节区进行直接序列分析，大大加快了许多营养不良症患者突变的特征。此外，这种直接序列分析使他们能够确定未知致病基因的变异(称为“多态”)是否对疾病的严重程度或病程有一些影响。使用这种方法，他们将在一大群患者中确定导致DMD和BMD的突变。通过(1)执行标准化的临床检查和(2)获得标准化的一组历史信息，他们将通过标准化和彻底的表型表征，从相同的队列中收集纵向自然历史数据。通过将基因变异与疾病严重程度相关联，他们希望更好地了解遗传机制是如何影响疾病的。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The United Dystrophinopathy Project (UPD) is a research project directed toward understanding how variations in the dystrophin gene affect the clinical symptoms of Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked cardiomopathy (the dystrophinopathies). These investigators have developed a method to rapidly, robustly, and economically perform direct sequence analysis of the entire coding and regulatory regions of the dystrophin gene, greatly expediting the characterization of mutations of many dystrophinopathy patients. In addition, this direct sequence analysis allows them to determine whether variations in the gene which are not known to be disease-causing (called "polymorphisms") have some influence on the severity or course of the disease. Using this methodology, they will identify the mutations responsible for DMD and BMD in a large cohort of patients. From this same cohort, they will gather longitudinal natural history data, via a standardized and thorough phenotypic characterization obtained by (1) performing standardized clinical examinations, and (2) obtaining a standardized set of historical information. By correlating the genetic variation with severity of disease, they hope to gain a better understanding of how genetic mechanisms influence the disease.