摘要
目的 对 1例巨大血小板综合征 (BSS)患者血小板异常和基因异常特征进行分析 ,探讨其发病机制。方法 光学显微镜与电子显微镜观察血小板形态与结构 ,比浊法测定血小板聚集。流式细胞仪检测血小板膜糖蛋白 (GP)。PCR扩增与DNA序列分析确定基因异常。结果 该例BSS患者的血小板体积巨大而数量减少 ,瑞斯托霉素不能诱导血小板凝聚 ,血小板膜GPⅠb/Ⅸ复合物明显减少 ,GPⅨ跨膜区发生Ala139(GCC)→Thr(ACC)突变。结论 该例BSS患者的GPⅨ跨膜区Ala139(GCC)→Thr(ACC)
Objective To diagnose a patient with Bernard Soulier syndrome (BSS) and investigate her gene abnormality. Methods Platelet size and structure were studied under light and electron microscopies. Platelet membrane glycoproteins (GP) were measured by flow cytometry. PCR and DNA sequencing were used to identify gene abnormality. Results The patient had thrombocytopenia with giant platelets. Ristocetin induced platelet agglutination was absent. GPⅠb/Ⅸ complex in the platelet membrane was significantly decreased, which was resulted from an Ala139 Thr substitution in the transmembrane domain of GPⅨ. Conclusion Ala139 Thr mutation of the GPⅨ gene in this patient is a novel missense mutation, which has not been reported in BSS.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2001年第9期464-466,共3页
Chinese Journal of Hematology
基金
国家自然科学基金 ( 39870 343)
江苏省卫生厅资助项目 (H9910 )
