遗传性血小板功能障碍(inherited platelet function disorders,IPFD)是一种多伴常染色体遗传的罕见出血性疾病,儿童多见,典型表现为不同程度的出血,以皮肤黏膜出血、月经过多、外伤后难以止血多见,伴或不伴血小板减少[1]。随着分子生...遗传性血小板功能障碍(inherited platelet function disorders,IPFD)是一种多伴常染色体遗传的罕见出血性疾病,儿童多见,典型表现为不同程度的出血,以皮肤黏膜出血、月经过多、外伤后难以止血多见,伴或不伴血小板减少[1]。随着分子生物学技术的发展,二代测序在临床的应用,发现了越来越多与血小板功能有关的基因突变。展开更多
The platelet membrane glycoprotein (GP)Ⅱ b/Ⅲ a, GPIX were detected by immunogold assay and flow cytometry, respectively, in two cases of Glannzmann's thrombasthenia (GT). The immunogold assay showed that the...The platelet membrane glycoprotein (GP)Ⅱ b/Ⅲ a, GPIX were detected by immunogold assay and flow cytometry, respectively, in two cases of Glannzmann's thrombasthenia (GT). The immunogold assay showed that the GPⅡ b/Ⅲ a gold granules in GT were decreased obviously, compared with that in normal controls. Flow cytometry results showed that GPⅡ b/Ⅲ a in two cases of GT was 0.1 % and 0.5 % of normal control, respectively. While GPIX showed no difference between the GT and normal control. The patients' father showed no bleeding symptoms, whose GPⅡ b/Ⅲ a accounted for 36.99 % of normal control. The experiment results suggested that flow cytometry is a quick, simple and sensitive method for the diagnosis of GP disorders.展开更多
文摘遗传性血小板功能障碍(inherited platelet function disorders,IPFD)是一种多伴常染色体遗传的罕见出血性疾病,儿童多见,典型表现为不同程度的出血,以皮肤黏膜出血、月经过多、外伤后难以止血多见,伴或不伴血小板减少[1]。随着分子生物学技术的发展,二代测序在临床的应用,发现了越来越多与血小板功能有关的基因突变。
文摘The platelet membrane glycoprotein (GP)Ⅱ b/Ⅲ a, GPIX were detected by immunogold assay and flow cytometry, respectively, in two cases of Glannzmann's thrombasthenia (GT). The immunogold assay showed that the GPⅡ b/Ⅲ a gold granules in GT were decreased obviously, compared with that in normal controls. Flow cytometry results showed that GPⅡ b/Ⅲ a in two cases of GT was 0.1 % and 0.5 % of normal control, respectively. While GPIX showed no difference between the GT and normal control. The patients' father showed no bleeding symptoms, whose GPⅡ b/Ⅲ a accounted for 36.99 % of normal control. The experiment results suggested that flow cytometry is a quick, simple and sensitive method for the diagnosis of GP disorders.
