THE MOLECULAR AND CLINICAL BIOLOGY OF VON WILLEBRAND DISEASE (VWD)

这个子项目是许多研究子项目中的一个 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。 本研究的目的是研究血管性血友病因子（VWF）或相关基因的遗传缺陷与血管性血友病（VWD）出血性疾病诊断和治疗的临床影响之间的关系。 假设大多数VWD是由VWF基因突变引起的，该突变导致产生减少或异常的VWF，这导致临床出血和VWD的诊断。 这些研究人员将研究既往诊断为VWD的家族，并确定出血症状、VWF蛋白异常的分离，以及与VWF基因或影响VWF水平或出血症状的其他基因中分子缺陷的联系。 人们认识到，可能存在VWF水平修饰基因（如ABO血型）和潜在的其他基因（如糖基化酶），这些基因在鼠系统中可通过改变VWF清除率引起1型VWD表型。

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. The purpose of this study is to study the relationship between genetic defects of the von Willebrand factor (VWF) or related genes and the clinical impact on the diagnosis and management of their von Willebrand disease (VWD) bleeding disorder. The hypothesis is that most VWD is caused by a mutation in the VWF gene that causes reduced or abnormal VWF to be produced and this results in clinical bleeding and the diagnosis of VWD. These investigtors will study families in which there is a previous diagnosis of VWD and determine the segregation of bleeding symptoms, VWF protein abnormalities, and linkage with molecular defects in the VWF gene or other genes affecting VWF levels or bleeding symptoms. It is recognized that there may be VWF-level modifying genes (such as ABO blood type) and potential other genes such as glycosylation enzymes that in the murine system can cause the type 1 VWD phenotype by altering rates of VWF clearance.