MOLECULAR BASIS OF ESSENTIAL THROMBOCYTOSIS

该子项目是利用 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，不一定是研究者的机构。 血小板是在血流中循环的小细胞碎片。它们通过在组织损伤部位形成“栓塞”的能力在控制出血方面发挥关键作用。一些患者血小板计数高，可能与出血或凝血问题有关，可能易患心脏病发作或中风。控制血小板生成的基因在很大程度上是未知的;它们的鉴定将允许更精确的诊断测试，风险评估和潜在的新治疗靶点。血小板没有细胞核;但它们确实携带一组来自其起源的前体骨髓细胞的不同基因。这些基因转录物（RNA）以不同的丰度水平存在，即它们中的一些以非常高的数量存在，而另一些则非常难以检测。我们将尝试使用复杂的实验室方法来鉴定可能与异常高血小板计数相关的新的血小板基因。 为了采集本研究的血小板，我们将使用常规用于血液分离的标准程序。所有血液样本将通过静脉穿刺获得，即从手臂静脉中解冻小体积（15至30 mL [1-2汤匙]）血液。血液将用作基因（RNA）分析的血小板来源，白色血细胞将用于分离DNA。将适当丢弃剩余样本（血浆和红细胞）。

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. Platelets are small cell fragments that circulate in the bloodstream. They play a key role in controlling bleeding by their ability to form "plugs" at sites of tissue injury. Some patients have high platelet counts that may be associated with bleeding or clotting problems that can predispose to heart attacks or stroke. The genes that control platelet production are largely unknown; their identification would allow more precise diagnostic tests, risk assessment, and potential new targets for therapy. Platelets do not have nuclei; however they do carry a set of different genes from the precursor bone marrow cells from which they originate. These gene transcripts (RNAs) are present at different abundance levels, i.e some of them are present at very high number, whereas others are very difficult to detect. We will try to use sophisticated laboratory methods to identify new platelet genes that may be associated with abnormally high platelet counts. To collect platelets for this study, we will use standard procedures that are routinely used for blood isolation. All blood samples will be obtained by venipuncture, i.e. thawing small volumes (15 to 30 mL [1-2 tablespoons]) of blood from a vein in one's arm. Blood will be used for the source of platelets for gene (RNA) analysis and white blood cells will be used for isolation of DNA. The remaining sample (plasma and red blood cells) will be properly discarded.