【摘要】 通过对凝血因子Ⅸ基因剔除小鼠遗传稳定性及其相应临床表型的研究，为以该动物模型为研究对象的血友病Ｂ基因治疗提供相应背景资料．遗传分析表明，该小鼠繁殖过程中无回复突变出现，亦未发现Ⅸ因子基因未敲除部分被转录的证据；血浆ＰＴ，ＫＰＴＴ 和Ⅸ因子活性检定结果提示该小鼠符合人血友病Ｂ相应临床表征．研究结果还发现，适时、适量采集小鼠送检血样对正确判断检定指标甚为重要更多还原

【Abstract】 The genetic stability and clinical phenotype of coagulation factor Ⅸ deficient mouse have been studied for the purpose of understanding the background of this animal model, which will be used as a model for gene therapy of hemophilia B. The analysis of genetic stability showed that there was no reverse mutation in the course of bearing in this animal. The evaluation of PT, KPTT and FIX activity in the mouse plasma suggested that this animal is a good model for human hemophilia B. We also demonstrated that it’s important to take the blood sample at a suitable intervals (>12 days) with no more than 200 μL blood each time, which is helpful for long term analysis.更多还原