一种新的GP Ⅱb基因540A缺失移码突变引起的血小板无力症  

Novel frame-shift mutation of 540 A deletion in GPⅡb gene from a patient with Glanzmann thrombasthenia

作　　者：蹇在伏[1] 唐发清[2] 陈方平[1] 解勤之[1] 王光平[1] 

机构地区：[1]中南大学湘雅医院血液科,长沙410008 [2]中南大学湘雅医院检验科,长沙410008

出　　处：《中南大学学报（医学版）》2008年第2期165-168,共4页Journal of Central South University ：Medical Science

摘　　要：目的:为了明确1例血小板无力症患者发生的分子机制。方法:用40对引物对血小板无力症患者GPⅡb/Ⅲa(αIIbβ3)基因的45个外显子序列及其剪切点进行全长扩增,用SSCP-聚丙烯酰胺凝胶电泳技术对扩增产物进行基因突变筛选,将筛选出的PCR产物进行直接测序。结果:患者GPⅡb基因Exon4的PCR产物经SSCP-聚丙烯酰胺凝胶电泳后出现异常条带,PCR产物直接测序显示GPⅡb基因540A缺失导致后面的氨基酸编码发生移码突变。结论:GPⅡb基因540A缺失发生移码突变是GPⅡb基因的一种新突变,是血小板无力症发病的分子基础之一。Objective To explore the molecular mechanism of Glanzmann thrombasthenia （GT）.Methods All 45 exons of αⅡb and β3 subunit genes as well as their splicing sites were amplified by polymerase chain reaction（PCR） with 40 primer pairs, and then the PCR products were used to screen the gene mutation by single strand conformation polymorphism-polyacrylamide gel electrophoresis （SSCP- PAGE）. The mutation was further confirmed by direct DNA sequencing. Results A DNA band aherated migration was detected after SSCP-PAGE. DNA sequencing showed that a base deletion within the band at the site of 540 inGP Ⅱb gene（540A） was found. Conclusion The frame-shift mutation caused by the deletion of 540A in GP Ⅱb gene is a novel mutation which is a genetic defect in patients with GT.

关 键 词：血小板无力症 GPⅡb/Ⅲaa 基因突变 

分 类 号：R725.5[医药卫生—儿科]