Fisher J H, Emrie P A, Drabkin H A, Kushnik T, Gerber M, Hofmann T, Jones C
Department of Medicine, University of Colorado Health Sciences Center, Denver 80262.
Am J Hum Genet. 1988 Oct;43(4):436-41.
Pulmonary surfactant is composed primarily of phospholipids but also contains three known surfactant-specific proteins. These proteins are important in determining the physical properties of pulmonary surfactant--including its ability to adsorb to an air-liquid interface and its structure--but also appear to influence surfactant metabolism. We have previously assigned two surfactant proteins, SP-A (a 28-36-kDa glycoprotein) and SP-B (an 18-kDa hydrophobic protein), to the short arm of chromosome 10 and to chromosome 2, respectively. We now report that the gene encoding the 5-8 kDa hydrophobic surfactant protein SP-C is located on the short arm of chromosome 8. A cDNA clone encoding the entire protein recognizes a useful EcoRI restriction-site-length polymorphism. Evaluation of congenital syndromes manifesting autosomal abnormalities does not further elucidate the functional role of this protein in promoting normal respiratory physiology.
肺表面活性物质主要由磷脂组成,但也包含三种已知的表面活性物质特异性蛋白。这些蛋白对于确定肺表面活性物质的物理特性很重要,包括其吸附到气液界面的能力及其结构,而且似乎还会影响表面活性物质的代谢。我们之前已将两种表面活性物质蛋白,即SP-A(一种28 - 36 kDa的糖蛋白)和SP-B(一种18 kDa的疏水蛋白),分别定位到10号染色体短臂和2号染色体上。我们现在报告,编码5 - 8 kDa疏水表面活性物质蛋白SP-C的基因位于8号染色体短臂上。一个编码完整蛋白的cDNA克隆识别出一种有用的EcoRI限制性酶切位点长度多态性。对表现出常染色体异常的先天性综合征的评估并未进一步阐明该蛋白在促进正常呼吸生理中的功能作用。