De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.
De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease.
复制标题
假性血管性血友病患者血小板糖蛋白 Ib α 基因的从头突变。
DOI：
10.1097/00001721-199707000-00009
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
T. Kamiya
中科院分区：
文献类型：
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作者：
S. Kunishima;Heaton Dc;T. Naoe;C. Hickton;S. Mizuno;H. Saito;T. Kamiya
假性(或血小板型)von Willebrand病(VWD)是一种非常罕见的常染色体显性遗传性出血性疾病，由von Willebrand因子的受体血小板膜糖蛋白(GP)Ib/Ix复合体异常高反应性引起。我们在一例散发性病例中发现了GPIBα基因的杂合性错义突变，在第239位残基上存在假性vWD：MET(ATG)到Val(GTG)。在两个亲本中都没有检测到突变。对D1S80(MCT118)、VWA和D17S5(YNZ22)三个数目可变的串联重复序列基因座的研究，证实了该突变的亲子关系和新的来源。此外，我们通过位于GPIBα基因下游的TaqI多态分析表明，突变发生在母亲的等位基因中。这是首次报道假性vWD和/或血小板GPIBα基因发生从头突变。
Pseudo (or platelet-type)- von Willebrand disease (vWD) is a very rare autosomal dominant bleeding disorder caused by an abnormal hyper-responsiveness of the platelet membrane glycoprotein (GP) Ib/IX complex, the receptor for von Willebrand factor. We found a heterozygous missense mutation in the GPIb alpha gene in a sporadic case with pseudo-vWD: Met (ATG) to Val (GTG) at residue 239. The mutation was not detected in either parent. Investigation of three variable number of tandem repeat loci, D1S80 (MCT118), vWA and D17S5 (YNZ22), confirmed paternity and the de novo origin of the mutation. Furthermore, we have shown by the TaqI polymorphism analysis, which is located downstream of the GPIb alpha gene, that the mutation occurred in the maternal allele. This is the first description of de novo mutation occurred in pseudo-vWD and/or platelet GPIb alpha gene.