VWD

Conclusion : The Msp ⅰ and Rsa ⅰ RELPs of vWF gene are useful for genetic counseling and prenatal diagnosis of vWD in Chinese Han people .

结论：在我国汉族人中，在vWF基因的5′端存在MspⅠ和RsaⅠ的多态性位点，可用于血管性血友病的遗传咨询和产前诊断。

The exon 28 of authenticity vWF gene was studied by PCR , denaturing gradient gel electrophoresis ( DGGE ) and sequencing in the type 2A vWD .

对2A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。

Different classifications and subtypes of vWD have different molecular pathogenesis .

遗传性vWD的不同分类及亚型分型具有不同的分子发病机制。

The pathogenesis of VWD type 2A includes two mechanisms .

其中，2A型突变在发病机制方面分为两组突变类型。

Clinical and genetic analysis of a severe vWD pedigree

一个重症vWD家系临床与基因分析

Conclusions Combination of the tests is qualified for the diagnosis of vWD .

C2327S突变影响多聚体形成。结论：本研究建立的方法和推荐的组合实验适合于绝大多数vWD患者的诊断和分型需要。

Objective : To investigate clinical features and analyse defect gene transmission in a severe vWD pedigree .

目的：研究重症血管性血友病（vWD）患者家系成员临床表型特征，并分析血管性血友病因子（vWF）基因缺陷的传递规律。

According to etiology , vWD can be divided into hereditary and acquired .

根据发病原因分为遗传性和获得性两大类。

Objective To study the clinical character and diagnosis of type 2A von Willebrand disease ( vWD ) .

目的探讨2A型血管性血友病的临床特征和诊断方法。

Samples were detected with a ( Variable ) Wave Detector ( VWD ) at 485 nm .

采用可变波长检测器（VWD），检测波长为485nm。

DNA analysis based on polymorphism markers within vWF gene has practical values in genetic consulting of severe vWD pedigrees .

应用vWF基因多种多态性标志行DNA分析对重症vWD家系遗传咨询有实用意义。

Objective To explore the application of collagen-binding assay for von Willebrand disease ( vWD ) .

目的探讨胶原结合分析试验在血管性血友病（vWD）检测中的应用前景。

VWD has been classified into three major types as quantitative ( type 1 and 3 ) and qualitative ( type 2 ) according to the pathophysiology .

遗传性vWD可根据表型分为1型、2型和3型。

Objective To study the molecular pathological mechanism of the type 2A von Willebrand disease ( vWD ) and the relationship of the phenotypes with genotypes .

目的研究中国人2A型血管性血友病（vonWillebranddisease，vWD）的分子病理机理，了解vWD的临床表现型和基因型的相关性。

Conclusion : ① The proband could be regarded as a putative compound heterozygote of type 3 vWD . The defect vWF gene carried by heterozygote family members could be compensated by a normal allele .

结论：①先证者可能为复合杂合子型的3型vWD患者，携带者的缺陷基因可被正常基因弥补。

Results It was found that the vWF : CBA level of plasma from patients with different types of vWD is lower than that from healthy donors , hemophilia and other bleeding disorders ( P < 0.001 ) .

结果vWD患者血浆vWF：CBA水平明显低于正常人及其它出血性疾病患者（P<0.001）；