2A型血管性血友病因子基因突变的研究
[Study on genetic mutations of the vWF in type 2A von Willebrand disease].
作者信息
Wang Y, Zhang J, Zhang W, Cheng D, Wan H, Ruan C
机构信息
The First Affiliated Hospital of Suzhou Medical College, Thrombosis and Hemostasis Research Unit, Jiangsu Institute of Hematology, Suzhou, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Aug;17(4):229-32.
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.
目的
研究2A型血管性血友病（vWD）的分子病理机制以及表型与基因型的关系。
方法
对126例遗传性出血性疾病患者进行出血时间、血管性血友病因子抗原（vWF:Ag）、凝血因子Ⅷ促凝活性（FVIII:CAg）、瑞斯托霉素诱导的血小板凝集试验（RIPA）及血浆多聚体分析检测。对2A型vWD患者的vWF基因第28外显子进行聚合酶链反应（PCR）、变性梯度凝胶电泳（DGGE）及测序研究。
结果
14例被诊断为2A型vWD。在3个2A型vWD家系中鉴定出4例导致单个氨基酸替代的点突变，即Arg611His、Ala737Glu、Arg834Trp。vWF中的Ala737Glu替代由一种新的错义突变引起。
结论
2A型vWD的分子病理机制具有高度变异性。
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