HUMAN VONWILLEBRAND-FACTOR (VWF) - ISOLATION OF COMPLEMENTARY-DNA (CDNA) CLONES AND CHROMOSOMAL LOCALIZATION
HUMAN VONWILLEBRAND-FACTOR (VWF) - ISOLATION OF COMPLEMENTARY-DNA (CDNA) CLONES AND CHROMOSOMAL LOCALIZATION
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DOI：
10.1126/science.3874428
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发表时间：
1985-01-01
期刊：
影响因子：
56.9
通讯作者：
ORKIN, SH
中科院分区：
文献类型：
--
作者：
GINSBURG, D;HANDIN, RI;ORKIN, SH
人凝血因子VIII-血管性血友病因子（vWF）是一种大的多聚体糖蛋白，在血液凝固系统中起核心作用，既作为因子VIIIC（抗血友病因子）的载体，又作为血小板-血管壁相互作用的主要介质。vWF活性降低或异常导致血管性血友病（vWD），一种常见且复杂的遗传性出血性疾病。已获得跨越vWF信使RNA的8.2个酶的重叠vWF cDNA克隆。vWF约占内皮细胞信使RNA的0.3%，在其他几种检查的组织中检测不到。vWF的一个大的单拷贝基因位于12号染色体的短臂（12 p12 → 12 pter）。两例重度vWD患者的DNA中未检测到明显的基因重排或缺失。
Human factor VIII—von Willebrand factor (vWF) is a large, multimeric glycoprotein that plays a central role in the blood coagulation system, serving both as a carrier for factor VIIIC (antihemophilic factor) and as a major mediator of platelet-vessel wall interaction. Diminished or abnormal vWF activity results in von Willebrand's disease (vWD), a common and complex hereditary bleeding disorder. Overlapping vWF cDNA clones that span 8.2 kilobases of the vWF messenger RNA have been obtained. vWF accounts for approximately 0.3 percent of endothelial cell messenger RNA and was undetectable in several other tissues examined. A large single copy gene for vWF is located on the short arm of chromosome 12 (12p12 → 12pter). No gross gene rearrangement or deletion was detected in the DNA of two patients with severe vWD.