血红素氧合酶-2基因表达与先天性巨结肠发病关系的初步探讨

Expression of heme oxygenase-2(HO-2)gene in Hirschsprung's disease

目的 探讨血红素氧合酶 2 (HO 2 )基因表达水平与先天性巨结肠症 (HD)发病机制的关系。方法 2 0 0 1年 8月～ 2 0 0 2年 1月收治 15例HD患儿 (男 12例 ,女 3例 ) ,年龄 2 1d～ 6岁 (平均1.8岁 ) ;其中短段型 3例 ,常见型 9例 ,长段型 3例。标本于术中分别取自狭窄段和正常近心端肠段 ,提取肠组织总RNA后利用逆转录 聚合酶链反应 (RT PCR)技术进行HO 2mRNA表达的半定量分析。结果 发现HO 2mRNA在正常近心肠段均有正常表达 ,狭窄段则表达缺失。结论 HD患儿狭窄肠段HO 2表达缺失 ,提示HO 2基因表达缺失可能与HD的发病有关。

Objective To explore the relationship between the expression of HO 2 gene and the pathogenesis of Hirschsprung's disease(HD). Methods Between August 2001 and January 2002, fifteen cases of HD (male 12, female 3) with age ranging from 21 days to 6 years (mean= 1.8 year) were studied. The group consisted of 3 cases in short segment type, 9 common type and 3 long segment type. The tissue specimens were obtained at operation under sterilized condition. Total ribonucleic acid (RNA) was extracted from the aganglionic and ganglionic segments respectively. The single stranded cDNA of HO 2 was synthesized and further amplified by reverse transcription polymerase chain reaction (RT PCR). Results The expression of HO 2 mRNA was normal in ganglionic segments, but absent in aganglionic segments. Conclusions The expression of HO 2 is absent in aganglionic segments of colon. This suggests that the lack of HO 2 mRNA expression may play an important role in the pathogenesis of HD.