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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 study the expression of Y gene related hypervariable region 10 (SOX10) in the sex determination area of Hirschsprung ’s disease (HD), and to understand the molecular mechanism of HD pathogenesis. Methods 50 cases of HD cases of surgical specimens of the stenosis segment, the migration segment and the expansion segment as the case group, and the other 50 cases of non-HD surgical specimens were randomly selected as the control group, the total RNA extracted smooth muscle tissue, reverse transcription (RT) The genes of interest and housekeeping genes were amplified by PCR, and the expression of SOX10 mRNA in the diseased and normal sections was observed. The expression of SOX10 mRNA was compared with that of housekeeping gene in the diseased and normal sections and analyzed statistically. Results SOX10 mRNA expression was low in spasticity group (0.186 19 ± 0.007 84) in HD group, high expression in expansion stage (0.506 94 ± 0.006 31) and control group (0.594 35 ± 0.006 29), SOX10 mRNA expression in spasticity group The difference was statistically significant (F = 16 384.220, P = 0.000) between the two groups and the control group (0.314 71 ± 0.016 57) and the control group Significance (F = 8 666.046, P = 0.000). Conclusion The abnormal distribution of SOX10 mRNA in colon of HD children shows that SOX10 gene is necessary for maintaining the normal function of the enteric nervous system after birth. The decrease of SOX10 mRNA expression may cause spasm and stenosis of intestine and cause intestinal dysfunction.