同源异型框基因在先天性巨结肠中的表达  

The expressions of Pitx2 and Hox-3.5 genes in Hirschsprung's disease

作　　者：高红[1] 王恩波[2] 张志波[2] 王维林[2] 黄英[2] 王练英[2] 

机构地区：[1]中国医科大学盛京医院卫生部小儿先天畸形重点实验室,沈阳110004 [2]中国医科大学盛京医院小儿外科,沈阳110004

出　　处：《中华小儿外科杂志》2007年第7期362-365,共4页Chinese Journal of Pediatric Surgery

摘　　要：目的探讨Pitx2、Hox-3.5 mRNA的表达与先天性巨结肠(Hirschsprung’s disease,HD)发病的关系及其对胚胎发育的作用和影响。方法取常见型HD 60例不同病理形态学肠段组织标本。同时Wistar大鼠消化道畸形动物模型正常对照组10只(N)、VitA缺乏组10只(A)、妊娠第0天补充VitA组10只(B)和妊娠第7天补充VitA组10只(C)各组消化道组织标本。应用RT-PCR方法检测Pitx2、Hox-3.5 mRNA表达情况。结果Pitx2在常见型的痉挛段、移行段和扩张段肠管组织中mRNA高表达(表达率分别为86.7%、78.3%和56.7%);Hox-3.5在常见型的痉挛段、移行段和扩张段肠管组织中mRNA高表达(表达率分别为91.7%、81.6%和68.3%)。而在HD正常段肠管中Hox-3.5 mRNA低表达(11.7%),Pitx2无表达,差异具有统计学意义(P<0.05)。结论Pitx2、Hox-3.5基因可能是影响胚胎发育、神经节细胞发育不全,而导致HD的原因之一;PitX2和Hox-3.5在动物胚胎发育中的作用是一个非常复杂的过程,这两种与发育有关的基因必须以一个严密而有序的方式相互协调和作用才能完成各种类型的细胞在特定地方的生长分化,继而形成特定的组织。Objective To evaluate the expressions of embryonic genes Pitx2 and Hox-3. 5 in Hirschsprung＇s disease （HD）, and to explore the role of homeobox genes Pitx2 and Hox-3. 5 in the development of HD. Methods The mRNA levels of Pitx2 and Hox-3. 5 were evaluated by semi-quantitative RT-PCR in the colon from 60 cases of HD. Moreover, the abnormal alimentary development of rats was induced by Vit A deficient. Expressions of Pitx2 and Hox-3. 5 in the intestines from rats were also detected by RT-PCR. Results The mRNA of Pitx2 was up-regulated in the narrow, transitional and dilated segments of HD （ positive rate was 86. 7%, 78. 3% and 56. 7%, respectively）, while it did not express in normal segment （P〈 0. 05）. Similarly, the mRNA of Hox-3. 5 was highly expressed in the narrow, transitional and dilated segments of HD （positive rate was 91.7%, 81.6% and 68.3% ,respectively）, while it was scarcely in normal segment （P〈0. 05）. The high mRNA levels of Pitx2 and Hox-3. 5 were also noted in the Vit A deficient group, and they were down-regulated after addition of Vit A. Condusions Pitx2 and Hox-3. 5 might affect the embryogenesis and normal development of ganglia cells, thus induce HD.

关 键 词：转录因子 巨结肠 先天性 RNA 信使 

分 类 号：R726.5[医药卫生—儿科]