凝血因子Ⅷ(FⅧ)是内源性凝血系统中一重要的辅助因子,由于基因缺陷而引起的A型血友病是一种常见的遗传性出血性疾病.近几年来,由于FⅧ基因的阐明及成功的表达,从而使其基因突变的研究得以深入而广泛地展开.文章对这方面最新的研究进展及其采用的新技术作了较全面的介绍,这是迄今遗传性疾病基因缺陷研究中最深入、最完整的一个范例.
Human factor Ⅷ is an important cofactor in the intrinsic blood coagulation. Hemophilia A is the most common severe inherited bleeding disease due to the deficiency or abnormality of factor Ⅷ. Factor Ⅷ gene has been successfully cloned and expressed in eukaryotic cells that promotes the studies on the gene mutations of factor Ⅷ widely and thoroughly. This article introduces the recent progress about this field. and new techniques used in researches. The study on gene abnormalities of factor Ⅷ can be regarded as an excellent example both in depth and width for researches of the congenital diseases.
耿解萍,戚正武,陈竺.因子Ⅷ基因突变的研究进展[J].生物化学与生物物理进展,1994,21(1):36-42
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