P2Y1受体基因在先天性巨结肠中的表达及其意义

目的 探讨嘌呤P2Y1受体与先天性巨结肠(HD)发病的关系.方法 选取郑州大学第三附属医院小儿外科20例HD患儿手术切除结肠的狭窄段和扩张段全层组织.20例HD患儿均根据临床症状、体征、钡灌肠、术中所见及病理检查证实为HD.男13例,女7例;手术年龄为10 d～2岁,平均4个月.常见型13例,长段型5例,短段型2例.另取20例直肠黏膜脱垂切除的正常结肠组织作为对照.采用反转录(RT)-PCR检测P2Y1受体基因在所取标本中的表达.结果 P2Y1受体基因在HD狭窄段肠管全层无表达(表达阳性率为0),其在HD扩张段表达减少(阳性率为45%),在正常肠管组织正常表达(阳性率为86.5%).P2Y1受体基因在狭窄段表达水平与其在扩张段和正常结肠组织的表达水平差异均有统计学意义(Pa=0.000);P2Y1受体基因在HD扩张段肠管表达水平与其在正常肠管表达水平比较差异无统计学意义(P=0.914).结论 P2Y1受体基因在结肠中表达缺乏可能是HD发病的重要原因之一,同时也是肠动力障碍的一个重要原因.

Expression of P2Y1 Purinergic Receptor Gene in Hirschsprung′s Disease and Its Significance

Objective To investigate the relationship between P2Y1 purinergic receptor and hirschsprung′s disease(HD).Methods Twenty cases(male 13 cases,female 7 cases) with HD,aged from 10 days to 2 years,were performed resections of stenosed segment of the colons and the expanded segment tissues,the HD was confirmed based on clinical symptoms,signs,barium enema and pathological examinations.Of 20 cases of HD,13 cases were common type,5 cases were long segment and 2 cases were short segment type.The tissues from intestinal mucous prolapse resection in other 20 cases were studied as controls.The expression of P2Y1 purinergic receptor gene was detected by molecular biology method(RT-PCR) in the samples.Results P2Y1 receptor gene in HD narrow section had no expression(the positive rate was 0);P2Y1 receptor gene in the HD expansion had decreased expression(the positive rate was 45%);P2Y1 receptor gene in the HD normal segment had normal expansion(the positive rate was 86.5%).The 3 groups were analyzed with the statistical software with comparison between groups.P2Y1 receptor gene expression in HD narrow segment,HD expansion and HD normal colon tissues had statistically significant diffe-rence(Pa=0.000);the contrast of P2Y1 receptor gene in HD expansion and HD normal colon tissues had no statistically significant difference(P=0.914).Conclusion The lack of P2Y1 expression in the aganglionic bowel of HD might be responsible for the intestine motility dysfunction in HD.