目的：检测Hoxd 13基因在肛门直肠畸形病人和正常人的直肠末端表达状况 ,探讨Hoxd 13基因与人类先天性肛门直肠畸形发生的关系。方法：应用RT -PCR方法检测Hoxd 13基因在 16例肛门直肠畸形患儿和 5例正常儿童直肠末端的表达水平。结果：Hoxd 13基因mRNA在先天性无肛畸形直肠末端表达水平明显低于正常直肠末端的表达 (0 .32± 0 .36vs 0 .73± 0 .10 )。 (P <0 .0 1)。结论：Hoxd 13基因表达可能与人类先天性肛门直肠畸形的发生有关

OBJECTIVE: To study the Hoxd 13 gene expression in the children with anorectal malformation (CAM) and normal children, and to explore the relationship between Hoxd 13 gene and CAM. METHODS: Hoxd 13 gene mRNA expression was detected by RT-PCR in the rectal pouch in both 16 cases of anorectal malformations and 5 normal children. RESULTS: The expression level of Hoxd 13 gene mRNA was significantly higher in normal children than that in children with CAM ( 0.32 ± 0.26 vs 0.73 ± 0.10 ), (P< 0.01 ). CONCLUSIONS: Hoxd 13 gene expression may be involved in the pathogenesis of anorectal malformation.