Ruan C, Gu J, Wang X, Chu X, Pan J
Jiangsu Institute of Haematology, Suzhou Medical College, The People's Republic of China.
Thromb Haemost. 1993 Jan 11;69(1):64-9.
Glanzmann's thrombasthenia is a bleeding disorder caused by qualitative and/or quantitative defects of platelet membrane glycoprotein (GP) IIb/IIIa complex. The disease is inherited in an autosomal recessive manner. In this paper, cDNA probes were used to study restriction fragment length polymorphisms (RFLPs) in GPIIIa gene. A Taq I polymorphism was identified and this RFLP was composed of variant bands of 6.5 Kb/4.0 and 2.5 Kb with a frequency of 0.46/0.54 in Chinese population. The Taq I polymorphism was further localized by polymerase chain reaction (PCR) method to exon VIII of the GPIIIa gene. In two Glanzmann's thrombasthenia families, the Taq I RFLP studied by both Southern blotting and PCR methods identified the defective GPIIIa gene inherited by patients, and determined the genotype of asymptomatic subjects. Analysis of this Taq I polymorphism by PCR method should be potentially useful in future for the carrier detection and prenatal diagnosis in Glanzmann's thrombasthenia families.
血小板无力症是一种由血小板膜糖蛋白（GP）IIb/IIIa复合物的定性和/或定量缺陷引起的出血性疾病。该疾病以常染色体隐性方式遗传。在本文中，使用cDNA探针研究了GPIIIa基因中的限制性片段长度多态性（RFLP）。鉴定出一种Taq I多态性，该RFLP由6.5 Kb/4.0和2.5 Kb的变异条带组成，在中国人群中的频率为0.46/0.54。通过聚合酶链反应（PCR）方法将Taq I多态性进一步定位到GPIIIa基因的第八外显子。在两个血小板无力症家族中，通过Southern印迹法和PCR方法研究的Taq I RFLP鉴定出患者遗传的缺陷性GPIIIa基因，并确定了无症状受试者的基因型。通过PCR方法对这种Taq I多态性进行分析在未来可能对血小板无力症家族的携带者检测和产前诊断有用。
