CORE--HEMOGLOBINOPATHY

核心血红蛋白实验室是NCCSCC的重要组成部分。 在目前的赠款期间（1993-1998年），核心方案的业绩达到了标准， 血红蛋白诊断程序，DNA诊断程序，开发了一个 许多先进的基于质谱的技术， 分析血红蛋白并将所有这些技术与分析相结合 异常的血红蛋白变体由于这项工作，核心 血红蛋白实验室已成为公认的国家资源， 血红蛋白变体的分析。在本申请中，核心 血红蛋白实验室将继续提供常规血红蛋白 诊断服务，如TLIF、电泳和定量A2 和F测量的基础和临床研究项目， 中心DNA诊断研究将通过临床 UCSF和CHORI的实验室。核心区域提供的专门方法 血红蛋白实验室将用于诊断速率血红蛋白 变体、临床研究-示范项目和基础研究 项目将向镰状细胞中心提供诊断服务 和新生儿筛查项目， 识别出具有未知血红蛋白变体的患者。核心 血红蛋白实验室将参与基础研究项目 包括转基因小鼠。将使用质谱和HPLC技术 用于表征珠蛋白的表达和血红蛋白的组成 四聚体在发育过程中。珠蛋白生物合成研究和检测 将进行新生小鼠中的嵌合，以便于选择 潜在的饲养员。核心将作为质量控制资源， 评价转基因产物表达的忠实性， 进行非预期血红蛋白蛋白种类的表征， 转基因动物，如果它们发生的话。除了致力于 临床和基础研究项目，核心血红蛋白实验室将 开展针对微型的方法开发研究 血红蛋白的分析。这项研究的目的是开发 涉及纳米喷雾电喷雾电离质量的方法学 质谱法（ESMS）与毛细管HPLC接口，用于结构分析 数量非常有限的血红蛋白的表征（转基因 动物胚胎、红细胞祖细胞和少量血红蛋白成分 通过TLIF分离）。

The Core Hemoglobin Laboratory is an essential component of the NCCSCC. During the current grant period, (1993-1998), the Core performed standard hemoglobin diagnostic procedures, DNA diagnostic procedures, developed a number of advanced mass spectrometry based techniques for structural analysis of hemoglobin and allied all of these techniques to the analysis of unusual hemoglobin variants. As a result of this work, the Core Hemoglobin Laboratory has become recognized as a national resources for analysis of hemoglobin variants. In the current application, the Core Hemoglobin Laboratory will continue to provide routine hemoglobin diagnostic services, such as TLIF, electrophoresis, and quantitative A2 and F measurements for basic and clinical research projects within the Center. DNA diagnostic studies will be available through clinical laboratories at UCSF and CHORI. Specialized methods available in the Core Hemoglobin Laboratory will be used for diagnosis of rate hemoglobin variants, clinical research-demonstration projects and basic research projects. Diagnostic services will be made available to Sickle Cell Center and Newborn screening programs in cases where clinically symptomatic patients with unknown hemoglobin variants are identified. The Core Hemoglobin Laboratory will participate in basic research projects involving transgenic mice. Mass spectrometric and HPLC techniques will be used to characterized globin expression and constitution of hemoglobin tetramers during development. Globin biosynthetic studies and detection of chimerism in newborn mice will be performed to facilitate the choice of potential breeders. The Core will serve as a quality control resource by evaluating faithfulness of expression of the transgene products and will perform characterization of unexpected hemoglobin protein species in transgenic animals, should they occur. In addition to its commitment to clinical and basic research projects, the Core Hemoglobin Laboratory will undertake studies in method development directed towards microscale analysis of hemoglobins. The aim of this research will be to develop methodologies involving nanospray electrospray ionization mass spectrometry (ESMS) interfaced with capillary HPLC for structural characterization of hemoglobins whose quantity is very limited (transgenic animal embryos, red cell progenitors and minor hemoglobin components isolated by TLIF).