SURFACTANT PROTEINS AND RESPIRATORY DISTRESS SYNDROME

表面活性蛋白与呼吸窘迫综合征

• 批准号: 7951229
• 负责人: JOANNA FLOROS
• 金额: $ 85.19万
• 依托单位: PENNSYLVANIA STATE UNIV HERSHEY MED CTR
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-04-01 至 2010-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7951229
• 关键词: Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Etiology; Family; Funding; Gene Proteins; Genetic; Genetic Markers; Grant; Haplotypes; Individual; Infant; Institution; Metabolism; Mutation; Parents; Population Study; Proteins; Pulmonary Surfactant-Associated Protein B; Research; Research Personnel; Resources; Source; Structure; Twin Multiple Birth; United States National Institutes of Health; respiratory distress syndrome; surfactant; surfactant deficiency

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.

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 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。 研究人群将包括无血缘关系的早产或足月出生的有或无RDS的个体及其父母;早产或足月出生的有或无RDS的双胞胎及其父母;以及有一个以上RDS个体的家庭。