论文部分内容阅读
通过对Wrn~(-/-)p53~(N236S)突变基因型小鼠的饲养发现纯合的Wrn~(-/-)p53~(N236S)突变小鼠出生率低,且雌性小鼠出生率显著低于雄性小鼠.随后剥离小鼠胚胎及对胚胎基因型进行鉴定发现,纯合的Wrn~(-/-)p53~(N236S)突变的雌性胚胎出现神经管缺陷(Neural tube defect,NTD)表型.本研究利用突变小鼠模型证明Wrn~(-/-)p53~(N236S)突变可以诱导胚胎发生NTD,从而降低纯合Wrn~(-/-)p53~(N236S)突变的雌性小鼠出生率,这将有助于进一步认识人类神经管缺陷的发病机制,为神经管缺陷疾病的预防提供新的方向.
We found that the homozygous Wrn ~ (- / -) p53 ~ (N236S) mutant mice had a low birth rate and the female mice had a significantly lower birth rate by feeding Wrn ~ (- / -) p53 ~ (N236S) mutant mice. In male mice, the mouse embryos were dissected and the embryo genotypes were identified. The results showed that the neural tube defect (NTD) was found in the homozygous Wrn ~ (- / -) p53 ~ (N236S) In this study, a mutant mouse model was used to demonstrate that Wrn ~ (- / -) p53 ~ (N236S) mutation can induce NTD in embryos and reduce the homozygous Wrn ~ (- / -) p53 ~ Birth rate, which will help to further understand the pathogenesis of human neural tube defects, provide a new direction for the prevention of neural tube defects.