SURFACTANT PROTEINS AND RESPIRATORY DISTRESS SYNDROME

表面活性蛋白与呼吸窘迫综合征

• 批准号: 7378439
• 负责人: JOANNA FLOROS
• 金额: $ 67.88万
• 依托单位: PENNSYLVANIA STATE UNIV HERSHEY MED CTR
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7378439
• 关键词: SURFACTANT; PROTEINS; RESPIRATORY; DISTRESS; SYNDROME

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.

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。表面活性剂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的病因与遗传有关。鉴于表面活性剂蛋白在表面活性剂结构、代谢和功能中的重要性，在本研究中，我们建议研究表面活性剂蛋白基因内部或侧面区域的遗传改变是否与RDS有关。主要目标是：1)表征表面活性剂蛋白（SP）基因内和侧翼序列的遗传标记，重点是SP- b；2)研究SP标记间的关联，确定单倍型；3)研究有和没有RDS的不同人群的标记和/或单倍型之间的关系。研究人群将包括有或没有RDS的早产或足月非亲属个体及其父母；患有或不患有RDS的早产或足月双胞胎及其父母；以及有不止一个RDS患者的家庭。