2A型血管性血友病vWF的基因突变  

Study on genetic mutations of the vWF in type 2A von Willebrand disease *

作　　者：王迎春[1] 张敬宇[1] 张威[1] 程大卫[1] 万海英[1] 阮长耿[1] 

机构地区：[1]苏州医学院附属第一医院江苏省血液研究所血栓与止血研究室,215006

出　　处：《中华医学遗传学杂志》2000年第4期229-232,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金!(39670 331 )

摘　　要：目的　研究中国人 2 A型血管性血友病 (von Willebrand disease,v WD)的分子病理机理 ,了解 v WD的临床表现型和基因型的相关性。方法　对 12 6例先天性出血性疾病患者进行了出血时间、v WF∶Ag、F ∶CAg、瑞斯脱霉素诱导的血小板聚集率的检测和 v WF的血浆多聚物分析。对 2 A型血管性血友病的患者用多聚酶链反应、变性梯度凝胶电泳 ,结合测序的方法进行了基因突变的研究。结果　确诊 2 A型血管性血友病 14例 ,在 3个家系发现了 4例 v WF的基因突变 ,它们是 Arg6 11His、Ala737Glu、Arg834 Trp,其中 Ala737Glu是 1例新的基因突变。结论　 2 A型 v WD的基因突变存在高度的异质性 ,对其分子病理机理的研究有助于了解 v WF的基因结构和功能的关系。Objective To study the molecular pathological mechanism of the type 2A von Willebrand disease(vWD) and the relationship of the phenotypes with genotypes. Methods A total of 126 patients with the hereditary hemorrhagic disease were examined using bleeding time, vWF∶Ag, FⅧ∶CAg, ristocentin induced platelet agglutination assay(RIPA) and multimer analysis of plasma. The exon 28 of authenticity vWF gene was studied by PCR, denaturing gradient gel electrophoresis(DGGE) and sequencing in the type 2A vWD. Results Fourteen cases were diagnosed as type 2A vWD. Four cases of point mutations resulting in single animo acid substitutions, Arg611His, Ala737Glu, Arg834Trp, were identified in 3 families of type 2A vWD. Ala737Glu substitution in vWF is caused by a novel missense mutation. Conclusion The molecular pathological mechanism of the type 2A vWD is very variant.

关 键 词：VWF基因 2A型血管性血友病 PCR 基因突变 

分 类 号：R554.1[医药卫生—血液循环系统疾病]