先天性第 VII 因子欠乏症 3 家系のミスセンス変異  [in Japanese] Identification of Missense Mutations in the FVII Gene of Three FVII Deficiencies  [in Japanese]

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Abstract

先天性第VII因子欠乏症3家系について, PCRとダイレクトシークエンスを用いた遺伝子解析を行い, 3種類のミスセンス変異を同定した. 家系1の発端者の病因遺伝子異常は, Thr 359 (ACG) → Met (ATG) のホモ接合体であった. 家系2の発端者は, 父親由来の対立遺伝子に His 348 (CAT) → Gln (CAG) を, また, 母親由来の対立遺伝子に第VII因子活性値低下に関与するポリモルフィズムであるArg 353 Gln と5'フランキング領域の 10 bp の挿入を有していることにより, 血漿第VII因子のレベルが低下していると考えられた. 家系3では, 未報告のGly 283 (GGC) → Ser (AGC) をヘテロ接合体で同定した.

We used PCR and direct sequencing to analyze the factor VII (FVII) gene in three unrelated Japanese families with FVII deficiency. Three different missense mutations in the catalytic domain of the FVII were identified. In family 1, the previously-identified mutation Thr 359 (ACG) → Met (ATG) (T 359 M) was identified as homozygous in the proband, who had severe bleeding diathesis. In family 2, a His 348 (CAT) → Gln (CAG) (H 348 Q) mutation was found to be heterozygous in the proband and his father. Two polymorphisms, Arg 353 Gln and a 10-bp insertion (CCTATATCCT) in the 5' flanking region, which are associated with reduced plasma FVII levels, were found to be heterozygous in both the proband and his mother. In family 3, a novel mutation, Gly 283 (GGC) → Ser (AGC) (G 283 S), was found to be heterozygous in an asymptomatic proband and her daughters.

Journal

  • Japanese Journal of Thrombosis and Hemostasis

    Japanese Journal of Thrombosis and Hemostasis 12(2), 133-143, 2001-04-01

    The Japanese Society on Thrombosis and Hemostasis

References:  34

Cited by:  2

Codes

  • NII Article ID (NAID)
    10008602213
  • NII NACSIS-CAT ID (NCID)
    AN10353762
  • Text Lang
    JPN
  • Article Type
    Journal Article
  • ISSN
    09157441
  • Data Source
    CJP  CJPref  J-STAGE 
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