Oliver Susan, Lau Kun Kan Edwin, Chapman Kent, Favaloro Emmanuel J
Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, NSW, 2145, Australia.
Department of Haematology, Pathology North, John Hunter Hospital, NSW Health Pathology, New Lambton Hts, NSW, Australia.
Methods Mol Biol. 2017;1646:495-511. doi: 10.1007/978-1-4939-7196-1_36.
Von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders develop due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for the VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. As an additional step, an evaluation of VWF structural features by multimer analysis is useful in selective investigations. The current paper therefore describes a protocol for assessment of VWF multimers by gel electrophoresis, thus enabling identification of protein bands that represent differently sized multimers. The sample protocol described in this chapter is the methodology developed by Sebia.
据报道，血管性血友病（VWD）是最常见的遗传性出血性疾病，也可作为一种获得性综合征（AVWS）出现。这些疾病是由于血浆蛋白血管性血友病因子（VWF）的缺陷和/或缺乏而产生的。对VWF相关疾病的实验室检测需要评估VWF水平和VWF活性，由于VWF为帮助预防出血而执行多种功能，后者需要进行多种检测。作为额外的步骤，通过多聚体分析评估VWF结构特征在选择性研究中很有用。因此，本文描述了一种通过凝胶电泳评估VWF多聚体的方案，从而能够识别代表不同大小多聚体的蛋白条带。本章所述的示例方案是赛比公司开发的方法。
