A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia |
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Authors: | Tanaka Shigenori Hayashi Tomoya Hori Yuji Terada Chikahiro Han Kyou Sup Ahn Hyo Seop Bourre Francois Tani Yoshihiko |
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Institution: | Department of Research, Osaka Red Cross Blood Centre, Japan. seiken@a1.mbn.or.jp |
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Abstract: | Glanzmann's thrombasthenia (GT) is a hereditary bleeding disorder caused by a quantitative or qualitative defect in the integrin alphaIIbbeta3. A new mutation, a T to C substitution at base 258 in the alphaIIb gene, leading to the replacement of Leu55 with Pro, was found by sequence analysis of a patient's alphaIIb cDNA. In transfection experiments using COS7 cells, the cells co-transfected with the mutated alphaIIb cDNA containing C258 and wild-type beta3 cDNA scarcely expressed the alphaIIbbeta3 complex. The Leu55 to Pro substitution in the alphaIIb gene was found to be responsible for this case of Glanzmann's thrombasthenia. |
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Keywords: | platelet Glanzmann's thrombasthenia integrin αIIbβ3 haemostasis |
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