血友病甲的基本缺陷是血浆因子Ⅷ(FⅧ)缺乏。1984年报道人FⅧ的第一个cDNA 和DNA 基因组克隆,这促进了血友病甲分子机理研究的迅速发展。1985年,FⅧ的第一个基因内限制性片段长度多态性(RFLP)标志被描述并用于携带者检测和产前诊断。重组人FⅧ也于1987年首次输给患者。本文拟简述血友病甲的遗传学,着重阐述DNA 重组技术在血友病甲中的应用。血友病甲的遗传学血友病甲的患病率约为100/10~6,按患者血浆中残留的FⅧ活性(FⅧ∶C)将其分为重型(<1%)、中型(1—5%)和轻型(5—30%)。本病的诊断一般依据常规凝血试验(家族史明确者尤其如此)。但约有 The basic flaw in hemophilia A is the lack of plasma factor VIII (FⅧ). In 1984, the first cDNA and DNA genomic clones of human FⅧ were reported, which promoted the rapid development of the molecular mechanism of hemophilia A molecule. In 1985, the first intragenic restriction fragment length polymorphism (RFLP) marker of FⅧ was described and used for carrier detection and prenatal diagnosis. Recombinant human FⅧ was also first lost to the patient in 1987. This article intends to outline the hemophilia A genetics, focusing on elucidating the DNA recombinant technology in hemophilia A in the application. The prevalence of haemophilia A in hemophilia A is about 100/10 to 6, and is classified as heavy (<1%), medium (1 -5%) and light (5-30%). The diagnosis of the disease is generally based on the conventional coagulation test (family history is particularly true). But about