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Hematologically important mutations: Glanzmann thrombasthenia.

作者信息

French D L, Coller B S

机构信息

Division of Hematology, Mt. Sinai School of Medicine, New York, NY 10029, USA.

出版信息

Blood Cells Mol Dis. 1997;23(1):39-51. doi: 10.1006/bcmd.1997.0117.

DOI:10.1006/bcmd.1997.0117
PMID:9215749
Abstract
摘要

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Hematologically important mutations: Glanzmann thrombasthenia.
Blood Cells Mol Dis. 1997;23(1):39-51. doi: 10.1006/bcmd.1997.0117.
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A mutant (Arg327-->His) GPIIb associated to thrombasthenia exerts a dominant negative effect in stably transfected CHO cells.与血小板无力症相关的突变型（精氨酸327→组氨酸）糖蛋白IIb在稳定转染的中国仓鼠卵巢细胞中发挥显性负效应。
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Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.糖蛋白IIb亮氨酸214脯氨酸突变导致血小板无力症，伴有糖蛋白IIb/IIIa的数量和质量异常。
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Disulfide bond disruption by a beta 3-Cys549Arg mutation in six Jordanian families with Glanzmann thrombasthenia causes diminished production of constitutively active alpha IIb beta 3.在六个患有Glanzmann血小板无力症的约旦家族中，β3-Cys549Arg突变导致的二硫键破坏会使组成型活性αIIbβ3的产生减少。
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A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.一名患有变异型Glanzmann血小板无力症患者的β3亚基天冬氨酸217位点替换为缬氨酸，这严重影响整合素αIIBβ3的功能。
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Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes.导致Glanzmann血小板无力症的αIIb和β3基因突变可通过使用转化B淋巴细胞的简单程序加以区分。
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A 1063G-->A mutation in exon 12 of glycoprotein (GP)IIb associated with a thrombasthenic phenotype: mutation analysis of [324E]GPIIb.糖蛋白（GP）IIb第12外显子中的1063G→A突变与血小板无力症表型相关：[324E]GPIIb的突变分析
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Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.血小板糖蛋白IIb（αIIb）和糖蛋白IIIa（β3）基因中10个新突变的描述
Platelets. 2001 Dec;12(8):486-95. doi: 10.1080/095371001317126383.

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