Bernard–Soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ibβ gene
Bernard–Soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ibβ gene
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Bernard–Soulier 综合征，血小板糖蛋白 Ibβ 基因信号肽编码区有 13 个碱基对纯合缺失
DOI：
10.1097/00001721-200306000-00010
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发表时间：
2003
影响因子：
1.1
通讯作者：
Y. Ikeda
中科院分区：
文献类型：
--
作者：
R. Watanabe;T. Ishibashi;Y. Saitoh;T. Shichishima;Y. Maruyama;Y. Enomoto;M. Handa;A. Oda;H. Ambo;M. Murata;Y. Ikeda
我们报告了一个Bernard-Soulier综合征家系，该家系在GPIbβ基因内存在纯合突变。先证者是一名24岁的日本男性，患有终身出血倾向。患者的姐姐也出现严重出血事件。先证者及患妹均无明显器质性或骨骼异常及精神障碍等并发症。他们出现血小板减少症[（35-40）× 109/l]伴巨大血小板。除了血小板大小，电子显微镜分析显示血小板内部结构异常。瑞斯托霉素诱导的血小板聚集是有缺陷的。流式细胞术和免疫印迹分析表明，血小板中几乎不存在GP IX，而GPIbα和GPV可被检测到。遗传学研究表明，GPIbβ信号肽编码序列中有13个碱基对的缺失。该缺失将引起移码，导致在无关多肽序列之后出现终止密码子。血小板RNA分析显示突变型GPIbβ基因转录。先证者和他患病的妹妹是纯合子的缺失，而他们未患病的父亲和母亲是杂合子。该家族的分子缺陷将有助于理解GPIbβ与糖蛋白Ib/IX/V受体复合物形成的相关性。
We report a family with Bernard–Soulier syndrome with a homozygous mutation within the GPIbβ gene. The proband was a 24-year-old Japanese male who has suffered from life-long bleeding tendency. The patient's sister also had severe bleeding episodes. The proband and the affected sister had no apparent complications including organic or skeletal anomaly, or mental disturbance. They had thrombocytopenia [(35–40) × 109/l] with giant platelets. In addition to platelet size, electron microscopic analysis revealed abnormalities in the internal structures of platelets. Ristocetin-induced platelet aggregation was defective. Flow cytometric analysis and western blot analysis showed that glycoprotein IX was nearly absent in platelets, whereas GPIbα and GPV were detectable. Genetic studies revealed a 13 base pair deletion in the signal peptide-coding sequence of GPIbβ. The deletion would cause a frame-shift, resulting in the appearance of a stop codon following an indifferent polypeptide sequence. Analysis of platelet RNA showed that the mutant GPIbβ gene was transcribed. The propositus and his affected sister were homozygous for the deletion, whereas their unaffected father and mother were heterozygotes. The molecular defects of this family would help understand the relevance of GPIbβ for complex formation of the glycoprotein Ib/IX/V receptor.
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编码人血小板糖蛋白 IX 的基因的表征。
DOI：
--
发表时间：
1993
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Hickey,MJ;Roth,GJ
通讯作者：
Roth,GJ
人血小板糖蛋白 V 和 IX：将两个富含亮氨酸的糖蛋白基因定位到 3 号染色体并进行结构分析。
影响因子：
2.9
作者：
Yagi,M;Edelhoff,S;Disteche,CM;Roth,GJ
通讯作者：
Roth,GJ
糖蛋白 (GP) IBbeta 与 GPIX 的关键相互作用——Bernard-Soulier 综合征的遗传原因。
影响因子：
20.3
作者：
Kenny,D;Morateck,PA;Gill,JC;Montgomery,RR
通讯作者：
Montgomery,RR
血小板膜糖蛋白 Ib 的冯维勒布兰德因子结合域。
DOI：
--
发表时间：
1986
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Handa,M;Titani,K;Holland,LZ;Roberts,JR;Ruggeri,ZM
通讯作者：
Ruggeri,ZM
糖蛋白 ib α 的表面表达依赖于糖蛋白 ib β：来自导致 Bernard-Soulier 综合征的新突变的证据。
影响因子：
20.3
作者：
Moran,N;Morateck,PA;Deering,A;Ryan,M;Montgomery,RR;Fitzgerald,DJ;Kenny,D
通讯作者：
Kenny,D