SURFACTANT PROTEINS AND RESPIRATORY DISTRESS SYNDROME

肺表面活性物质缺乏可导致呼吸窘迫综合征 (RDS)早产儿。RDS的病因是 多因素和/或多基因。基因对人类的贡献 许多研究已经提出了RDS的病因。因为. 表面活性蛋白质在表面活性结构中的重要性， 代谢和功能在我们目前的研究中，我们建议研究 无论表面活性物质内部或两侧区域的基因变化 蛋白质基因与RDS相关。主要目标是：1) 鉴定基因序列内和两侧的遗传标记 表面活性蛋白基因(SP-B)；2)研究 SP标记的关联性以确定单倍型；以及3)研究 不同群体的标记和/或单倍型之间的关联 患有和不患有RDS的个体。研究人群将包括 无血缘关系的早产或足月出生患有或不伴有RDS的人 和他们的父母；早产或足月出生的双胞胎，有无RDS 和他们的父母；以及有一个以上的RDS患者的家庭。

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.