書誌事項
- タイトル別名
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- Thrombocytopenia and c-mpl Gene Mutation.
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抄録
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder in infancy characterized by isolated thrombocytopenia and megakaryocytopenia without physical anomalies. CAMT often progresses to bone marrow failure in later childhood, suggesting a defect in the hematopoietic stem cells as well as in the megakaryocytic lineage cells. The current studies have demonstrated that most CAMT patients suffered the disorder because of c-mpl mutation, which disrupts the function of thrombopoietin (TPO) receptor. The reported 16 types of mutations from 16 CAMT patients comprised 4 types of nonsense mutations, 4 deletions, 5 missense mutations, and 3 mutations around exon-intron junctions. Phenotype-genotype correlations were generally observed. The mutations in most patients were derived from their parents in accordance with an autosomal recessive pattern of inheritance. Many phenotypic similarities between human CAMT and murine c-mpl-deficiency were also reported. These findings confirmed the importance of TPO receptor as a development and maturation of megakaryocytic lineage and early hematopoietic progenitor cells. In the future, the analysis of the TPO receptor gene, c-mpl, in a great many patients with CAMT will help in understanding the pathophysiology of CAMT as well as its diagnosis, genetic counseling, and therapeutic judgment of the application of recombinant TPO.
収録刊行物
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- 日本小児血液学会雑誌
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日本小児血液学会雑誌 16 (6), 335-339, 2002
特定非営利活動法人 日本小児血液・がん学会
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詳細情報 詳細情報について
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- CRID
- 1390001204343199744
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- NII論文ID
- 130004345739
- 10012211686
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- NII書誌ID
- AN10080852
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- ISSN
- 18844723
- 09138706
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可