血小板膜糖蛋白Ⅱb/Ⅲa基因多态性与血小板输注疗效的关系

The relationship between gene polymorphism of platelet glycoprotein Ⅱ b /Ⅲ a and therapeutic effect of platelet transfusion

目的通过对98例患者血小板膜糖蛋白(GP)Ⅱb/Ⅲa基因多态性及血小板抗体的检测,探讨其与血小板输注疗效的关系。方法采用聚合酶链反应(PCR)扩增结合测序的方法检测患者GPⅡb/Ⅲa基因中5个外显子的9个多态性位点,采用固相凝集法检测患者血小板抗体。结果 98例患者中只检测到GPⅡb基因的第26外显子存在T18809G变异,导致Ile843Ser多态性,产生HPA-3aa/ab/bb血型的3种基因型。此3种基因型均与血小板抗体产生相关,造成血小板输注无效。98例患者的血小板抗体阳性率为52.0%,1 468袋血小板输注总有效率为77.8%,其中65袋配合性血小板输注的有效率为83.1%。3种基因型之间均无明显差异。结论血小板特异性及相关性抗体的存在是造成血小板输注无效的主要免疫性因素,GPⅡb基因上的HPA-3多态性与血小板输注无效有关。

Objective To investigate the relationship between gene polymorphism and therapeutic effect of platelet transfusion by detecting the gene polymorphism of platelet glycoprotein （GP） Ⅱb/Ⅲa and platelet antibody in 98 patients. Methods A total of 9 sites of 5 exons in GP Ⅱb/Ⅲa gene were amplified by polymerase chain reaction （PCR）, and PCR products were directly sequenced to analyze the gene polymorphism. Platelet antibody was detected by solid phase agglutination assay. Results Only T18809G variation existing in Exon 26 of GP 11 b gene was found in 98 patients,which causing Ile843Ser polymorphism and producing HPA-3aa/ab/bb genotypes. All of the 3 genotypes can cause platelet antibodies, resulting platelet transfusion refractoriness. The positive rate of platelet antibody in 98 patients was 52.0%, the total effective rate of 1 468 platelet transfusion was 77.8% , and the effective rate of 65 matched platelet transfusion was 83.1%. There were no significant differences among the 3 genotypes. Conclusions The specificity and associated platelet antibody are the main immune factors for causing platelet transfusion refractoriness, and HPA-3 polymorphism in GP Ⅱ b gene is associated with platelet transfusion refractoriness.