中文摘要：

目的研究先天性肛门直肠畸形（CAM）直肠末端Shh／Bmp4信号表达水平，探讨其与畸形发生的关系。方法采用RTPCR方法检测15例高位CAM、25例低位CAM和10例正常对照组直肠后壁末端Shh、Gli2和Bmp4表达水平，比较正常组与CAM组、CAM组不同类型之间表达水平的差异。结果高位CAM的Shh、Gli2和Bmp4表达水平明显低于正常及低位CAM（P〈0．05），除Gli2外，低位CAM的Shh和Bmp4表达水平与正常组相比差异无统计学意义（P〉0．05）。结论高位CAM的发生可能与Shh／Bmp4信号表达下调有关，低位CAM可能涉及其他机制。

英文摘要：

Objective To assess the relationship between the expression of Shh/Bmp4 signaling pathway and congenital anorectal malformations （CAM）. Methods The posterior wall of terminal rectum of 40 anorectal malformation patients （15 high and 25 low）and 10 normal controls were sampled. The Shh,Gli2 and Bmp4 mRNA were extracted, assayed by RT-PCR and the difference between the two groups was compared. Results The expression levels of Shh,Gli2 and Bmp4 mRNA were signifi camly lower in high CAM than those in low CAM and in control group. There was no significant difference between the low CAM and control group except the Gli2 gene. Conclusions Down regulation of Shh/Bmp4 signaling pathway may be one of the factors contributing to the pathogenesis of CAM . There may be other mechanisms involved in low CAM.