SURFACTANT PROTEINS AND RESPIRATORY DISTRESS SYNDROME

表面活性物质缺乏可导致早产儿呼吸窘迫综合征（RDS）。 RDS的病因是多因素和/或多遗传的。 许多研究表明RDS的病因学与遗传有关。 由于在我们目前的研究中，表面活性物质的结构，代谢和功能的表面活性物质蛋白的重要性，我们建议研究是否在区域内或侧翼的表面活性物质蛋白基因的遗传变异与RDS。 主要目标是：1）表征表面活性蛋白（SP）基因内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;和3）研究具有和不具有RDS的不同个体组的标记和/或单倍型之间的关联。研究人群将包括早产或足月出生的无血缘关系的个体（有或无RDS）及其父母;早产或足月出生的双胞胎（有或无RDS）及其父母;以及有多个RDS个体的家庭。

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.