SURFACTANT PROTEINS AND RESPIRATORY DISTRESS SYNDROME

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 缺乏表面活性剂会导致早产婴儿出现呼吸窘迫综合症（RDS）。 RDS 的病因是多因素和/或多基因的。 许多研究表明 RDS 的病因与遗传有关。 由于表面活性剂蛋白在我们本研究中表面活性剂结构、代谢和功能中的重要性，我们建议研究表面活性剂蛋白基因内部或侧翼区域的遗传改变是否与 RDS 相关。 主要目标是：1）表征表面活性剂蛋白（SP）基因内部和侧翼序列中的遗传标记，重点是 SP-B； 2) 研究SP标记的关联以确定单倍型； 3) 研究患有和不患有 RDS 的不同人群的标记和/或单倍型之间的关联。 研究人群将包括患有或不患有 RDS 的早产或足月的无关个体及其父母； 患有或不患有 RDS 的早产或足月双胞胎及其父母； 以及有超过一名 RDS 患者的家庭。

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.