Duan Xiang-Long, Zhang Xian-Sheng, Li Guo-Wei
Department of General Surgery, Second Hospital of Xi'an Jiaotong University, Xi'an 710004, Shaanxi Province, China.
World J Gastroenterol. 2003 Dec;9(12):2839-42. doi: 10.3748/wjg.v9.i12.2839.
To investigate the mutation of EDNRB gene and EDN-3 gene in sporadic Hirschsprung's disease (HD) in Chinese population.
Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery. Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP).
EDNRB mutations were detected in 2 of the 13 short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or long-segment HD.
The mutations of EDNRB gene and EDN-3 gene are found in the short-segment HD of sporadic Hirschsprung's disease in Chinese population, which suggests that the EDNRB gene and EDN-3 gene play important roles in the pathogenesis of HD.
研究中国人群散发性先天性巨结肠病（HD）中EDNRB基因和EDN - 3基因的突变情况。
从34例接受手术切除的散发性HD患者的肠组织中提取基因组DNA。采用聚合酶链反应（PCR）扩增EDNRB基因的第3、4、6外显子和EDN - 3基因的第1、2外显子，并通过单链构象多态性（SSCP）进行分析。
在13例短段型HD患者中，2例检测到EDNRB基因突变。1例突变位于第3外显子，另1例位于第6外显子。在13例短段型HD患者中的1例检测到EDN - 3基因突变，位于第2外显子。在1例短段型HD患者中同时检测到EDNRB基因和EDN - 3基因突变。在普通型或长段型HD患者中未检测到突变。
在中国人群散发性先天性巨结肠病的短段型HD中发现了EDNRB基因和EDN - 3基因突变，提示EDNRB基因和EDN - 3基因在HD的发病机制中起重要作用。
