【摘要】 为探讨快速检测血小板膜的糖蛋白（ＧＰ）ＩＩｂ和ＩＩＩａ基因点突变（或小片段基因改变）的方法，采用单链构型多态性分析研究正常人和血小板无力症患者血小板膜ＧＰＩＩｂ，ＩＩｌａ基因结构。外周血ＤＮＡ提取后，用聚合酶链反应（ＰＣＲ）扩增各外显子，ＰＣＲ产物变性后在微型聚丙烯酰胺凝胶上分离，通过银染色对迁移率异常的ＰＣＲ产物进行核苷酸序列分析。结果显示，３例血小板无力症２例点突变，１例小片断（１６个碱基）基因缺失，另外检测出ＧＰＩＩｂ三种多态性。本研究表明，单链构型多态性分析不失为一种快速、敏感、有效的检测ＧＰＩＩｂ和ＩＩｌａ基因结构变异的方法。更多还原

【Abstract】 lanzmann thrombasthenia (GT) is the most com-mon inherited disorder of platelet defective function.Most of the molecular defects of GT identified in recentyears have been caused by point mutation in the plateletglycoprotein (GP) IIb , IIIa genes. Trying to rapidly de-tect point mutation (or subtle variety) in GPllb, IIIagenes, we have used single strand conformation poly-morphism analysis (SSCPA) and studied the gene struc-ture of platelet GPIIb, IIIa from normal controls andpatients with Glanzmann thrombasthenia. After DNApreparation from peripheral bloed . all the exons of GPI-Ib, IIIa were amplified by PCR. Denaturated PCRproducts were separated on mini polyacrylamide gel andstained by silver staining method in the Phast System.Only the PCR products with different migration on thegel were sequenced. 2 GT patients with point mutationsand 1 GT patient with 16 bp deletion were found in ourstudy. At the same time, we determined 3 polymor-phisms in GPllb gene. We conclude that SSCPA is arapid, sensitive and effective methed for detectingplatelet IIb, IIIa gene variety.更多还原