PROGRESSIVE LUNG DISEASE AND SURFACTANT DYSFUNCTION WITH A DELETION OF SURFACT

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心机构，不一定为研究者机构。表面活性蛋白-C（SP-C）基因突变是家族性散发性间质性肺病（ILD）的原因。这种突变的后果或肺表面活性物质的组成和功能知之甚少。为了确定SP-C基因突变对表面活性物质的影响，我们在移植时从一名14个月大的患有进行性ILD的婴儿中获得了隆德组织。在一个等位基因上存在跨越SP-C基因外显子3的密码子91-93 ub的框内9个碱基对缺失;双亲均不携带该缺失。

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.