SOX10基因在先天性巨结肠患儿肠壁中的表达  

Expression of SOX10 mRNA in Bowel of Children with Hirschsprung′s Disease

作　　者：李新宁 曾甜 莫丹 石群峰 罗树友 苏乃伟 

机构地区：[1]广西儿童医院小儿外科,南宁530003

出　　处：《实用儿科临床杂志》2012年第23期1810-1812,共3页Journal of Applied Clinical Pediatrics

基　　金：广西科技厅自然基金(桂科自0991181)

摘　　要：目的研究先天性巨结肠(HD)肠壁中性别决定区Y基因相关高可变区基因10(SOX10)的表达,了解HD在分子基础上的发病机制。方法分别取50例HD病例的手术标本狭窄段、移行段及扩张段为病例组,另随机取50例非HD手术病例标本作为对照组,提取其平滑肌组织总RNA,应用反转录(RT)-PCR扩增目的基因和看家基因片段,观察其病变段和正常段SOX10 mRNA的表达,并与看家基因在病变段和正常段的表达进行比较,并进行统计学分析。结果 SOX10 mRNA在HD患儿痉挛段(0.186 19±0.007 84)呈低表达,在扩张段(0.506 94±0.006 31)及对照组(0.594 35±0.006 29)呈高表达,痉挛段SOX10 mRNA的表达量与移行段(0.314 71±0.016 57)、扩张段及对照组比较,差异有统计学意义(F=16 384.220,P=0.000);而移行段、扩张段与对照组比较,差异亦有统计学意义(F=8 666.046,P=0.000)。结论 HD患儿结肠SOX10 mRNA的异常分布显示SOX10基因是出生后肠神经系统维持正常功能所必需的,SOX10 mRNA表达减少可引起肠管痉挛、狭窄,造成肠功能障碍。Objective To investigate the expression of SOX10 mRNA in bowels of Hirschsprung＇s disease （HD） patients,and to further explore the molecular mechanism of HD. Methods The specimens were collected from 50 HD patients, and the negative samples from 50 patients without HD were used as controls. Smooth muscle tissues were isolated from spastic segment, transition segment and distending segment, respectively. RNA of each segment was extracted, then the targeting gene and housekeeping gene （β -actin） were amplified by means of re- verse transcriptions polymerase chain reaction,and the expression level of SOX10 mRNA was subjected to a comparative examination in the trial and control groups. The data were analyzed by using SPSS 17.0 statistical software. Results SOXIO mRNA in spastic segment（0. 186 19 ± 0. 007 84 ） showed low expression, which displayed statistical difference from that in transitional segment （0.314 71 ± 0. 016 57 ） , distending segment （0. 506 94± 0. 006 31 ） and control group （0. 594 35 ± 0. 006 29） （ F = 16 384. 220, P=0. 000）. In contrast, a comparative high expression in distending segment was observed. However, SOX10 mRNA level in transitional segment and distension segment was significantly lower than that in control group （F = 8 666. 046, P = 0. 000）. Conclusions The abnormal expression in bowel segments of HD patients infers that SOX10 is necessary to maintain the function of enteric nervous system. The insufficient expression of SOX10 mRNA may cause the relevant bowel dysfunctions,including intestinal stenosis and spasm.

关 键 词：先天性巨结肠 Y基因相关高可变区基因10 反转录多聚酶链反应 

分 类 号：R726.5[医药卫生—儿科]