目的　探讨先天性肛门直肠畸形直肠末端SHH转录反应因子Gli2基因表达水平与畸形的关系。方法　采用RT PCR方法检测 16例不同类型先天性肛门直肠畸形直肠后壁末端及 8例正常直肠后壁末端Gli2的表达水平 ,应用t检验比较正常组与畸形组、不同畸形类型之间Gli2表达水平的差异。结果　肛门直肠畸形直肠后壁末端Gli2的表达水平明显低于正常直肠 (P =0 .0 1) ,各不同类型畸形之间Gli2表达水平无明显差异 (P >0 .0 5 )。结论　Gli2表达水平减低与肛门直肠畸形的发生有关 ,还有其他机制参与该畸形的发生 Objective To investigate the relationship between the abnormal expression of Gli2 gene and the SHH transcriptional factor in the rectum of congenital anorectal malformation. Methods RT-PCR was used to detect the expression of Gli2 in 16 cases of congenital anorectal malformation rectal wall and 8 cases of normal rectal wall. The t-test was used to compare the expression of Gli2 between normal group and deformity group The difference. Results The expression of Gli2 in the anterior and posterior rectal wall of anorectal malformation was significantly lower than that in normal rectum (P = 0.01). There was no significant difference in the expression of Gli2 between the different types of anomalies (P> 0.05). Conclusion The decrease of Gli2 expression is related to the occurrence of anorectal malformation, and other mechanisms are involved in the occurrence of this deformity