Carrier Detection and Prenatal Diagnosis for Hemophilia A Using the Inversion Analysis of the Factor VIII Gene

DOI Web Site PubMed 15 References
  • OKAMOTO Yoshihiro
    First Department of Internal Medicine, Nahoya University School of Medicine Division of Clinical Pharmacy, Faculty of Parmacology, Meijo University
  • KOJIMA Tetsuhito
    First Department of Internal Medicine, Nahoya University School of Medicine
  • KATSUMI Akira
    First Department of Internal Medicine, Nahoya University School of Medicine
  • YAMAZAKI Tomio
    First Department of Internal Medicine, Nahoya University School of Medicine
  • HAMAGUCHI Motohiro
    First Department of Internal Medicine, Nahoya University School of Medicine
  • NISHIDA Mikio
    Division of Clinical Pharmacy, Faculty of Parmacology, Meijo University
  • SUZUMORI Kaoru
    Department of Obstetrics and Gynecology, Medical School, Nagoya City University
  • SAITO Hidehiko
    First Department of Internal Medicine, Nahoya University School of Medicine

Bibliographic Information

Other Title
  • 第VIII因子遺伝子逆位解析の重症血友病Aにおける保因者診断，出生前診断への応用
  • 第8因子遺伝子逆位解析の重症血友病Aにおける保因者診断,出生前診断への応用
  • ダイ 8 インシ イデンシ ギャクイ カイセキ ノ ジュウショウ ケツユウビョ

Search this article

Abstract

Hemophilia A is an X-linked hemorrhagic disorder caused by heterogeneous mutations in the factor VIII gene. Recently, it was reported that approximately 50% of the cases of severe hemophilia A may be caused by a common inversion in the factor VIII gene. In this study, we analyzed 33 Japanese patients with severe hemophilia A for the presence of this inversion mutation using the non-RI Southern blotting, and detected inversion mutations of the factor VIII gene in 12 patients (36.4%). We also showed that the inversion analysis of the factor VIII gene was useful for carrier detection and prenatal diagnosis in a hemophilia A family, which we had not been able to diagnose by the analysis of restriction fragment length polymorphisms (RFLPs) of the factor VIII gene. The detection of inversion mutations in the factor VIII gene using non-RI Southern blotting analysis appears to be very useful for the genetic counseling for severe hemophilia A.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 36 (11), 1252-1256, 1995

    The Japanese Society of Hematology

References(15)*help

See more

Keywords

Details 詳細情報について

Report a problem

Back to top