THE GENETIC EPIDEMIOLOGY OF INHERITED ABNORMALITIES OF PARTURITION

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。早产是一个普遍的公共卫生问题，对围产期发病率和死亡率有重大影响。目前，早产儿约占活产婴儿的10%，占新生儿发病率和死亡率的50%-70%。尽管过去30年来技术和医学取得了进步，但这一重大的公共卫生问题仍在增加。有几种不同的证据表明了基因的贡献，但还没有确定。导致或易患早产的基因的可能性为未来改善早产的管理提供了巨大的潜力。该方案的总体目标是确定是否存在家族性早产综合征，如果存在，则建立其遗传学基础。我们将评估早产母亲在其家庭中早产特征的分离情况，并估计遗传性早产的流行率。我们随后将建立一个相关的流行病学和生物库，可用于基因组扫描和比较病例和对照，以确定是否存在与家族性早产综合征相关的条件。

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. Preterm delivery is a mojor public health problem with a significant impact on perinatal morbidity and mortality. Preterm infants currently constitute approximately 10% of live births and account for 50-70% of neonatal morbidity and mortality. This substantial public health problem has increased despite technological and medical advances over the past 30 years. Several different lines of evidence have suggested but not established a genetic contribution. The possibility of genes that cause or predispose to preterm labor holds tremendous protential for improving the management of preterm labor in the future. The overall goal of this protocol is to determine whether familial prematurity syndromes exist and if so to establish their genetic basis. We will evaluate mothers delivering preterm for the segregation of preterm delivery traits in their family and estimate the prevalence of inherited forms of preterm delivery. We will subsequently establish a linked epidemiologic and biologic repository that can be used for genomic scan and compare cases and controls to see if there are conditions associate with familial preterm delivery syndromes