A Leu55 to Pro substitution in the integrin αIIb is responsible for a case of Glanzmann's thrombasthenia
A Leu55 to Pro substitution in the integrin αIIb is responsible for a case of Glanzmann's thrombasthenia
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DOI：
10.1046/j.1365-2141.2002.03678.x
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发表时间：
2002-09-01
影响因子：
6.5
通讯作者：
Tani, Y
中科院分区：
文献类型：
--
作者：
Tanaka, S;Hayashi, T;Tani, Y
血小板无力症（GT）是一种遗传性出血性疾病，由整合素α（IIb）β（3）的定量或定性缺陷引起。通过对患者α（IIb）cDNA的序列分析，发现了一个新的突变，α（IIb）基因第258位碱基由T变为C，导致Leu（55）被Pro取代。在使用COS 7细胞的转染实验中，用含有C-258的突变的α（IIb）cDNA和野生型β（3）cDNA共转染的细胞几乎不表达α（IIb）β（3）复合物。发现α（IIb）基因中的Leu（55）替换为Pro是导致Glanzmann血栓无力症的原因。
Glanzmann's thrombasthenia (GT) is a hereditary bleeding disorder caused by a quantitative or qualitative defect in the integrin alpha(IIb) beta(3). A new mutation, a T to C substitution at base 258 in the alpha(IIb) gene, leading to the replacement of Leu(55) with Pro, was found by sequence analysis of a patient's alpha(IIb) cDNA. In transfection experiments using COS7 cells, the cells co-transfected with the mutated alpha(IIb) cDNA containing C-258 and wild-type beta(3) cDNA scarcely expressed the alpha(IIb) beta(3) complex. The Leu(55) to Pro substitution in the alpha(IIb) gene was found to be responsible for this case of Glanzmann's thrombasthenia.