症例報告 Familial Genetic Analysis of Copper Transporting P-type ATPase (ATP7B) Gene in Wilson's disease Familial Genetic Analysis of Copper Transporting P-type ATPase (ATP7B) Gene in Wilson's disease

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We have analyzed the copper-transporting P-type ATPase (ATP7B) gene responsible for Wilson's disease to provide an explanation for the early onset of acute hepatitis. The ATP7B coding sequence, including the intron-exon boundaries, has been screened for mutations by direct sequence analysis. The genetic data in this study indicate that the patient has been proven to carry both R778L and 2871del.C, each as one of the known disease-causing mutations. The R778L and 2871del.C were inherited from the father and the mother, respectively. Therefore, the patient was confirmed as a compound heterozygote for these mutations. This compound heterozygous mutation resulted in severe disruption of the ATP7B function. In sibs, however, the suspicion of Wilson's disease could be rejected because the compound heterozygous mutation was not found in them. The evidence suggests that the familial genetic analysis provides integral information to the genetic counseling for the disease in families with these patients.

収録刊行物

  • Biomedical research on trace elements  

    Biomedical research on trace elements 17(4), 406-411, 2006-12-31 

    Japan Society for Biomedical Research on Trace Elements

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各種コード

  • NII論文ID(NAID)
    10018664560
  • NII書誌ID(NCID)
    AN10423256
  • 本文言語コード
    ENG
  • 資料種別
    NOT
  • ISSN
    0916717X
  • NDL 記事登録ID
    8664930
  • NDL 雑誌分類
    ZS8(科学技術--医学--解剖学・生理学・生化学)
  • NDL 請求記号
    Z19-3255
  • データ提供元
    CJP書誌  NDL  J-STAGE 
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