Gu J
Zhonghua Yi Xue Za Zhi. 1991 Dec;71(12):680-2, 46.
Glanzmann's thrombasthenia (GT) is an autosomal recessive bleeding disorder in which platelets fail to aggregate in second hemostasis due to qualitative and/or quantitative defect in their GPIIb/IIIa complex. In the present study, both phenotypic and genotypic assays were performed by Western blot and Southern blot techniques in 13 members of 3 GT families. 2 GT carriers of 3 probable carriers whose clinical features and GPIIb/IIIa protein were essentially normal were determined by Taq I/5' GPIIIa RFLP. There were no major deletion or insertion in GPIIIa gene in 4 patients with GT. Thus, the genetic defects in these patients is most likely due to a small change or point mutation in the nucleotide sequence of GPIIIa coding region.
Glanzmann血小板无力症（GT）是一种常染色体隐性出血性疾病，由于血小板糖蛋白IIb/IIIa复合物存在定性和/或定量缺陷，导致血小板在二期止血过程中无法聚集。在本研究中，运用蛋白质免疫印迹法和Southern印迹技术对3个GT家族的13名成员进行了表型和基因型分析。通过Taq I/5' GPIIIa限制性片段长度多态性分析确定了3名可能携带者中的2名GT携带者，其临床特征和GPIIb/IIIa蛋白基本正常。4例GT患者的GPIIIa基因未出现大片段缺失或插入。因此，这些患者的遗传缺陷很可能是由于GPIIIa编码区核苷酸序列发生微小变化或点突变所致。
