A Leu55 to Pro substitution in the integrin αIIb is responsible for a case of Glanzmann's thrombasthenia

被引：7
|
作者：
Tanaka, S
Hayashi, T
Hori, Y
Terada, C
Han, KS
Ahn, HS
Bourre, F
Tani, Y
机构：
[1] Osaka Red Cross Blood Ctr, Dept Res, Joto Ku, Osaka 5368505, Japan
[2] Seoul Natl Univ, Coll Med, Seoul, South Korea
[3] Hop Cardiol, CNRS, UMR 5533, Pessac, France
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 2002年 / 118卷 / 03期
关键词：
platelet; Glanzmann's thrombasthenia; integrin alpha(IIb)beta(3); haemostasis;
D O I：
10.1046/j.1365-2141.2002.03678.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：833 / 835
页数：3
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