Flow Cytometric Intracellular Protein Evaluation in Chronic Granulomatous Disease

流式细胞术细胞内蛋白质评估慢性肉芽肿性疾病

• 批准号: 6103716
• 负责人: thomas a fleisher
• 金额: --
• 依托单位: CLINICAL CENTER
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6103716
• 关键词: autosomal recessive trait; chronic granulomatous disease; clinical research; flow cytometry; gene expression; granulocyte; human subject; method development; sex linked trait

The development of a flow cytometric intracellular assay for the presence of the proteins gp91phox and p47phox has been accomplished using specific cell fixation and permeabilization procedures. This method has been applied to evaluate granulocytes from chronic granulomatous disease (CGD) patients and a pattern has been observed that distinguishes the X-linked form of CGD (gp91 phox deficient) from the most common autosomal recessive form of CGD (p47phox deficient). In addition, this method confirms that the maternal carriers of the X-linked form have two populations of circulating granulocytes, one normal (normal gp91phox expression) and one abnormal (absent gp91phox expression). The combination of this method with the DHR assay allows for a rapid and accurate genotype assignment in the majority of CGD patients.

细胞内流式细胞仪的研制 检测 gp91phox 和 p47phox 蛋白的存在 使用特定的细胞固定和透化来完成 程序。该方法已应用于评估粒细胞 来自慢性肉芽肿病 (CGD) 患者和模式 已观察到区分 CGD 的 X 连锁形式 （gp91 phox 缺陷）来自最常见的常染色体隐性遗传 CGD 形式（p47phox 缺陷）。另外，这个方法 证实 X 连锁形式的母体携带者有两个 循环粒细胞群，一种正常（正常 gp91phox 表达）和 1 个异常（gp91phox 缺失） 表达）。该方法与 DHR 测定相结合 允许对大多数人进行快速、准确的基因型分配 CGD 患者。