PROGRESSIVE LUNG DISEASE AND SURFACTANT DYSFUNCTION WITH A DELETION OF SURFACT

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。表面活性蛋白-C(SP-C)基因突变与家族性散发性间质性肺病(ILD)有关。这种突变的序列或肺表面活性物质的组成和功能还知之甚少。为了确定SP-C基因突变对肺表面活性物质的影响，我们在移植时从一名14个月大的进行性ILD婴儿身上获取肺组织。在一个等位基因上存在跨越SP-C基因91-93密码子UB外显子3的框架内9个碱基对缺失；亲本均未携带该缺失。

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. Mutations in the surfactant protein-C (SP-C) gene are responsible for familial a sporadic interstitial lung disease (ILD). The onsequences of such mutations or pulmonary surfactant composition and function are poorly understood. To determine the effects of a mutation in the SP-C gene on surfactant, we obtained lund tissue at the time of transplantation from a 14 month old infant with progressive ILD. An in-frame 9 base pair deletion spanning condons 91-93 ub Exon 3 of the SP-C gene was present on one allele; neither parent carried this deletion.