SIP1基因在先天性巨结肠症中的表达研究  

The expression pattern of SIP1 gene in colons of Hirschsprung disease

作　　者：伍美[1] 弭杰[1] 高红[1] 

机构地区：[1]中国医科大学附属盛京医院卫生部小儿先天畸形重点实验室,沈阳110004

出　　处：《中华小儿外科杂志》2012年第2期92-96,共5页Chinese Journal of Pediatric Surgery

基　　金：国家自然科学基金资助项目（编号：30772277）

摘　　要：目的 研究SIP1 （smad-interacting protein 1）基因在先天性巨结肠症（Hirschsprung Disease,HD）中的表达情况,探讨SIP1与HD发病的关系.方法 利用荧光实时定量PCR（quantitative real-time PCR,qRT-PCR）、蛋白印迹（Western blot）和免疫组化方法检测30例HD狭窄段（无神经节细胞）和正常段（神经节细胞）肠管组织患儿SIP1的表达,并对其表达进行定量与比较分析.结果 SIP1在HD狭窄段肠管中mRNA表达为19.19±0.23,均高于正常段肠管中的表达11.06±1.12,差异有统计学意义（P＜0.05）.Western Blot结果显示,SIP1在HD狭窄段肠管中蛋白相对含量为53.73±0.49,明显高于正常段肠管蛋白含量18.32±1.54,差异有统计学意义（P＜0.05）.免疫组化结果显示,SIP1在HD狭窄段肠管中高表达,呈棕黄色；正常段肠管低表达,无色或淡黄色.结论 SIP1 mRNA与蛋白在HD狭窄段肠管中高表达,提示SIP1与HD的发生有密切关系,可能在先天性消化道畸形的肠道发育中具有重要作用.Objective The expression of SIP1 gene in tissue samples from patients with Hirschsprung disease（HD）was studied to explore the relationship between SIP1 and development of HD.Methods 30 of stenotic and normal segments of intestines from HD patients were collected during operation.The expression levels of SIP1 were studied using quantitative real-time PCR （qRT-PCR）.Protein expression of SIP1 was detected by Western blot and immunohistochemical staining in 30 HD （aganglionic and ganglionic segments）.Results In the HD patients,the mRNA levels of SIP1 in stenotic intestine were significantly higher than those in the normal intestine （19.19 ± 0.23vs 11.06 ± 1.12） （P〈0.05）.The protein expression level showed a similar trend 53.73 ± 0.49,in the abnormal vs 18.32 ± 1.54 in normal） （P〈0.05）.Immunohistochemical staining was more intense in the aganglionic segment （brown） than in the normal segment （stramineous or colorless） of the SIP1.Conclusions Higher expression of SIP1 gene and protein in stenotic intestine of HD would suggest that SIP1 was involved in the formation stages and pathogenesis of HD.

关 键 词：先天性巨结肠 SIP1基因 蛋白印迹 免疫组织化学 

分 类 号：R726.5[医药卫生—儿科]