SURFACTANT PROTEINS AND RESPIRATORY DISTRESS SYNDROME

缺乏表面活性剂可导致呼吸窘迫综合征 (RDS)在早产儿中。RDS的病因是 多因素和/或多基因的。遗传学的贡献 RDS的病因已被许多研究所提出。因为 表面活性剂蛋白在表面活性剂结构中的重要性， 在我们目前的研究中，我们建议研究 无论是表面活性剂内部或侧面区域的遗传改变 与RDS相关的蛋白质基因。主要目标是：1） 表征基因的侧翼序列内和侧翼序列中的遗传标记 表面活性蛋白（SP）基因，重点是SP-B; 2）研究 SP标记的关联以确定单倍型;以及3）研究 不同群体的标记和/或单倍型之间的关联 有和没有RDS的人研究人群将包括 无血缘关系的早产儿或足月儿，伴或不伴RDS 和他们的父母;早产或足月出生的双胞胎，有或没有RDS 他们的父母;和家庭有一个以上的个人与RDS。

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.