Phenotypic approaches to gene mapping in platelet function disorders
Phenotypic approaches to gene mapping in platelet function disorders
复制标题
血小板功能障碍基因图谱的表型方法
DOI：
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发表时间：
2010
期刊：
影响因子：
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通讯作者：
A. Mumford
中科院分区：
文献类型：
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作者：
S. Watson;M. Daly;B. Dawood;P. Gissen;M. Makris;S. Mundell;Jonathan J. Wilde;A. Mumford
摘要 血小板数量或功能障碍会导致一系列从轻微到严重的出血症状。血小板功能障碍但血小板数量正常的患者最为常见，并且通常有轻微的出血症状。对这组患者的研究特别困难，因为缺乏血小板功能的金标准测试，并且受影响个体的出血表型外显率存在差异。这篇简短综述的目的是讨论如何通过血小板表型分析与靶向基因测序相结合来研究这组患者。这种方法最近已用于识别关键血小板激活受体（即 ADP、胶原蛋白和血栓素 A2 (TxA2) 受体）发生突变的患者。这项工作的一个有趣的发现是，对于一些患者来说，轻度出血与血小板蛋白的杂合突变有关，这些突变与其他止血遗传性疾病（例如 1 型冯维勒布兰德病）共同遗传。因此，在某些患者中，轻度出血的表型可能是多因素的，并且可以被认为是一个复杂的特征。
Summary Platelet number or function disorders cause a range of bleeding symptoms from mild to severe. Patients with platelet dysfunction but normal platelet number are the most prevalent and typically have mild bleeding symptoms. The study of this group of patients is particularly difficult because of the lack of a gold-standard test of platelet function and the variable penetrance of the bleeding phenotype among affected individuals. The purpose of this short review is to discuss the way in which this group of patients can be investigated through platelet phenotyping in combination with targeted gene sequencing. This approach has been used recently to identify patients with mutations in key platelet activation receptors, namely those for ADP, collagen and thromboxane A2 (TxA2). One interesting finding from this work is that for some patients, mild bleeding is associated with heterozygous mutations in platelet proteins that are co-inherited with other genetic disorders of haemostasis such as type 1 von Willebrand‘s disease. Thus, the phenotype of mild bleeding may be multifactorial in some patients and may be considered to be a complex trait.
影响因子：
20.3
作者：
Blue, Robert;Murcia, Marta;Coller, Barry S.
通讯作者：
Coller, Barry S.