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A Leu 55 to Pro substitution in the integrin α IIb is responsible for a case of Glanzmann's thrombasthenia
Author(s) -
Tanaka Shigenori,
Hayashi Tomoya,
Hori Yuji,
Terada Chikahiro,
Han Kyou Sup,
Ahn Hyo Seop,
Bourre Francois,
Tani Yoshihiko
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03678.x
Subject(s) - thrombasthenia , complementary dna , glanzmann's thrombasthenia , platelet glycoprotein gpiib iiia complex , integrin , microbiology and biotechnology , transfection , mutation , platelet , chemistry , gene , biology , medicine , biochemistry , receptor , platelet aggregation
Summary. Glanzmann's thrombasthenia (GT) is a hereditary bleeding disorder caused by a quantitative or qualitative defect in the integrin α IIb β 3 . A new mutation, a T to C substitution at base 258 in the α IIb gene, leading to the replacement of Leu 55 with Pro, was found by sequence analysis of a patient's α IIb cDNA. In transfection experiments using COS7 cells, the cells co‐transfected with the mutated α IIb cDNA containing C 258 and wild‐type β 3 cDNA scarcely expressed the α IIb β 3 complex. The Leu 55 to Pro substitution in the α IIb gene was found to be responsible for this case of Glanzmann's thrombasthenia.