因子Ⅷ基因突变的研究进展

Progress in the Studies on Gene Mutations ofFactor Ⅷ.

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。

uman factor Ⅷ is an important cofactor inthe intrinsic blood coagulation. Hemophilia Ais the most common severe inherited bleedingdisease due to the deficiency or abnormality offactor Ⅷ. Factor Ⅷ gene has been successfullycloned and expressed in eukaryotic cells thatpromotes the studies on the gene mutations offactor Ⅷ widely and thoroughly. This articleintroduces the recent progress about this field.and new techniques used in researches. Thestudy on gene abnormalities of factor Ⅷ can beregarded as an excellent example both in depthand width for researches of the congenital dis-eases.