先天性巨结肠症中Neuroligin2基因的表达及意义

doi:10.6040/j.issn.1671-7554.0.2014.018

山东大学学报（医学版） ›› 2014, Vol. 52 ›› Issue (9): 15-19.doi: 10.6040/j.issn.1671-7554.0.2014.018

先天性巨结肠症中Neuroligin2基因的表达及意义

杨洪超, 王健, 张文同, 李爱武

山东大学齐鲁医院小儿外科, 山东济南 250012

收稿日期:2014-01-09 修回日期:2014-07-02 出版日期:2014-09-10 发布日期:2014-09-10
基金资助:
国家自然科学基金(81270720)；山东大学自由探索科研基金(2012ZD026)

Expression and significance of Neuroligin2 in children with hirschsprung’s disease

YANG Hongchao, WANG Jian, ZHANG Wentong, LI Aiwu

Department of Pediatric Surgery, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China

Received:2014-01-09 Revised:2014-07-02 Online:2014-09-10 Published:2014-09-10
Contact: 李爱武。E-mail:liaiwu2012@126.com E-mail:liaiwu2012@126.com

摘要/Abstract

摘要： 目的研究先天性巨结肠症（HD）患儿各段肠管中Neuroligin2基因的表达情况，探讨Neuroligin2表达与HD发生的可能关系。方法选取山东大学齐鲁医院小儿外科行手术治疗的HD患儿结肠标本共42例，将HD患儿正常段设为正常对照组，移行段及狭窄段设为实验组，应用Western blotting、实时荧光定量聚合酶链式反应（qRT-PCR）及免疫组织化学染色方法观察Neuroligin2在各肠段的表达情况。结果 Western blotting结果显示Neuroligin2蛋白在狭窄段相对表达量为0.012±0.001，明显少于移行段和正常段（0.039±0.001， 0.057±0.002； P<0.05）。qRT-PCR结果显示，Neuroligin2的mRNA水平与蛋白表达趋势一致。免疫组织化学染色示HD患儿正常段肠管的肌间肠神经节细胞中有Neuroligin2强阳性细胞的表达，而在狭窄段肠管中弱阳性表达，移行段肠管可见Neuroligin2阳性细胞的表达。结论 HD患儿狭窄段肠管中Neuroligin2的表达缺失可能与HD的发生有关。

关键词: Neuroligin2, 先天性巨结肠症, 实时荧光定量聚合酶链式反应

Abstract: Objective To investigate the expression of Neuroligin2 in normal and spastic segments of colon in children with hirschsprung's disease (HD), and to explore the correlation of Neuroligin2 with pathogenesis of HD. Methods A total of 42 resected colon specimens of HD cases treated during 2012 to 2013 were enrolled. Normal colonic segments were served as control group, while the transitional and spastic segments as experimental group. Neuroligin2 expression was detected with immunohistochemical staining, Western blotting, and qRT-PCR. Results Western blotting revealed that Neuroligin2 protein in spastic segments (0.012±0.001) was lower than that in transitional segments and normal segments (0.039±0.001 and 0.057±0.002, respectively; P<0.05). qRT-PCR revealed that Neuroligin2 mRNA level was consistent with the protein expression. A large number of Neuroligin2 positive gangliocytes were observed in the control group, while none was observed in spastic segments. Significantly fewer Neuroligin2 positive gangliocytes were found in the transitional segments. Conclusion Neuroligin2 is significantly down-regulated in spastic colon segments, which may be associated with the pathogenesis of HD.

Key words: Neuroligin2 gene, Quantitative real-time polymerase chain reactions, Hirschsprung’s disease

中图分类号:

R726

杨洪超, 王健, 张文同, 李爱武. 先天性巨结肠症中Neuroligin2基因的表达及意义[J]. 山东大学学报（医学版）, 2014, 52(9): 15-19.

YANG Hongchao, WANG Jian, ZHANG Wentong, LI Aiwu. Expression and significance of Neuroligin2 in children with hirschsprung’s disease[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2014, 52(9): 15-19.

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先天性巨结肠症中Neuroligin2基因的表达及意义

Expression and significance of Neuroligin2 in children with hirschsprung’s disease

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