Three novel integrin β3 subunit missense mutations (H280P, C560F, and G579S) in thrombasthenia, including one (H280P) prevalent in Japanese patients

Hironobu Ambo, Tetsuji Kamata, Makoto Handa, Masashi Taki, Minoru Kuwajima, Yohko Kawai, Atsushi Oda, Mitsuru Murata, Yoshikazu Takada, Kiyoaki Watanabe, Yasuo Ikeda

研究成果: 雜誌貢獻文章同行評審

40 引文 斯高帕斯(Scopus)

摘要

We analyzed three unrelated Japanese patients with type II Glanzmann thrombasthenia (GT) for associated mutations. Polymerase chain reaction and subsequent direct sequencing of platelet RNA and genomic DNA revealed three single nucleotide substitutions of the integrin β3 subunit gene (His (CAT)-280 to Pro (CCT), Cys (TGT)-560 to Phe (TTT), and Gly(GGC)-579 to Ser(AGC)). Interestingly, the three unrelated patients all had the H280P mutation; one was homozygous and the other two heterozygous for this mutation. Ectopic expression of wild type and mutant complexes in Chinese hamster ovary cells revealed decreased surface expression of the mutated αIIbβ3 complexes, thus demonstrating that these mutations may result in the mild GT phenotypes. The identification of three unrelated patients having the same mutation (H280P) suggests that this mutation might be prevalent in the Japanese thrombasthenic population.

原文英語
頁(從 - 到)763-768
頁數6
期刊Biochemical and Biophysical Research Communications
251
發行號3
DOIs
出版狀態已發佈 - 10月 29 1998
對外發佈

ASJC Scopus subject areas

  • 生物化學
  • 生物物理學
  • 分子生物學

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