SURFACTANT PROTEINS AND RESPIRATORY DISTRESS SYNDROME

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。肺表面活性物质缺乏可导致早产儿出现呼吸窘迫综合征(RDS)。RDS的病因是多因素和/或多基因的。许多研究表明，遗传因素对RDS的病因有贡献。鉴于表面活性蛋白在表面活性物质结构、代谢和功能中的重要性，我们建议研究表面活性物质蛋白基因内部或侧翼的基因改变是否与RDS有关。主要目标是：1)表征表面活性蛋白(SP)基因序列内和侧翼序列中的遗传标记，重点是SP-B；2)研究SP标记的相关性以确定单倍型；以及3)研究患有和不患有RDS的不同群体的标记和/或单倍型之间的关联。研究人群将包括无血缘关系的早产或足月出生的有或没有RDS的人及其父母；早产或足月出生的有或没有RDS的双胞胎及其父母；以及有不止一个人患有RDS的家庭。

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. Deficiency of surfactant can result in Respiratory Distress Syndrome (RDS) in the prematurely born infant. The etiology of RDS is multifactorial and/or multigenetic. A genetic contribution to the etiology of RDS has been suggested by a number of studies. Because of the importance of the surfactant proteins in surfactant structure, metabolism and function in our present study, we propose to study whether genetic alterations in regions within or flanking the surfactant protein genes associate with RDS. The key objectives are: 1) characterize genetic markers within and in flanking sequences of the surfactant protein (SP) genes with emphasis on SP-B; 2) study associations of the SP markers to determine haplotypes; and 3) study associations between the markers and/or haplotypes of various groups of individuals with and without RDS. The study population will include unrelated individuals born prematurely or at term with or without RDS and their parents; twins born prematurely or at term with or without RDS and their parents; and families with more than one individual with RDS.