GENETICS OF PATENT FORAMEN OVALE&ATRIAL SEPTAL ANEURYSM:EVAL MUTATION NKX2-5GENE

卵圆孔未闭的遗传学

• 批准号: 7377824
• 负责人: MICHAEL W ROBERTSON
• 金额: $ 0.15万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 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/7377824
• 关键词: GENETICS; PATENT; FORAMEN; OVALE&ATRIAL; SEPTAL

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. This study is designed to evaluate a condition known as a patent foramen ovale (PFO). A PFO is a small connection or hole between the top two chambers of the heart that is present in up to 30% of the population. Most people don't have problems related to PFO. A small minority of people may have problems related to a PFO such as strokes or mini-strokes. We are interested in determining if patent foramen ovale (PFO) runs in families (is inherited). In order to determine if PFO is inherited we need to evaluate family members of patients known to have the condition. We also need to compare families of people with PFO to genetically unrelated individuals (such as spouses). The aim of this study is two-fold: First, we want to see if PFO runs in families. We will evaluate family members of patients with PFO with an ultrasound of the heart. This helps us to see if family members might also have a PFO. Agitated saline (micro-bubbles) is injected into an IV. The micro-bubbles are watched to see if they travel across a channel through the top two chambers of your heart (suggesting a PFO). We will compare these results to ultrasounds of genetically unrelated individuals (such as their spouses). The second aim is to test for one or more gene abnormalities that might be related to the development of PFO. DNA will be collected from a blood sample of the study participants and used to look at one or more of these genes. Up to 200 local subjects will be asked to participate in this study. Subjects will be asked to come to the University Hospital General Clinical Research Center (GCRC) for one study visit.

该子项目是利用 NIH/NCRR 资助的中心拨款提供的资源的众多研究子项目之一。子项目和研究者 (PI) 可能已从另一个 NIH 来源获得主要资金，因此可以在其他 CRISP 条目中得到体现。列出的机构是中心的机构，不一定是研究者的机构。本研究旨在评估卵圆孔未闭 (PFO) 的病症。 PFO 是心脏顶部两个心室之间的一个小连接或孔，高达 30% 的人群存在这种情况。大多数人没有与 PFO 相关的问题。少数人可能存在与 PFO 相关的问题，例如中风或小中风。我们有兴趣确定卵圆孔未闭 (PFO) 是否存在家族遗传（遗传）。为了确定 PFO 是否是遗传性的，我们需要评估已知患有该疾病的患者的家庭成员。我们还需要将 PFO 患者的家庭与遗传无关的个人（例如配偶）进行比较。 这项研究的目的有两个：首先，我们想了解 PFO 是否在家族中遗传。我们将通过心脏超声评估 PFO 患者的家庭成员。这有助于我们了解家庭成员是否也可能患有 PFO。将搅拌过的盐水（微泡）注入静脉注射器中。观察微气泡是否穿过心脏顶部两个心室的通道（提示 PFO）。我们将这些结果与遗传无关的个体（例如他们的配偶）的超声波进行比较。第二个目标是检测可能与 PFO 发生相关的一种或多种基因异常。将从研究参与者的血液样本中收集 DNA，并用于研究其中一个或多个基因。 最多 200 名当地受试者将被要求参加这项研究。受试者将被要求前往大学医院普通临床研究中心 (GCRC) 进行一次研究访问。