Okamoto Y, Kojima T, Katsumi A, Yamazaki T, Hamaguchi M, Nishida M, Suzumori K, Saito H
First Department of Internal Medicine, Nahoya University School of Medicine, Japan.
Rinsho Ketsueki. 1995 Nov;36(11):1252-6.
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.
甲型血友病是一种X连锁出血性疾病，由凝血因子VIII基因的异质性突变引起。最近有报道称，约50%的重度甲型血友病病例可能由凝血因子VIII基因的常见倒位所致。在本研究中，我们使用非放射性Southern印迹法分析了33例日本重度甲型血友病患者，以检测这种倒位突变的存在，并在12例患者（36.4%）中检测到凝血因子VIII基因的倒位突变。我们还表明，凝血因子VIII基因的倒位分析对于甲型血友病家族中的携带者检测和产前诊断很有用，而此前我们无法通过凝血因子VIII基因的限制性片段长度多态性（RFLP）分析进行诊断。使用非放射性Southern印迹分析检测凝血因子VIII基因中的倒位突变，对于重度甲型血友病的遗传咨询似乎非常有用。
