先天性巨结肠症EDN-3及EDNRB基因结构的PCR-SSCP分析

目的　检测中国散发先天性巨结肠症是否有EDNRB基因和EDN 3基因突变 ,以探讨EDNRB及EDN 3与HD发生的关系。方法　 34例中国散发先天性巨结肠症。提取手术组织标本基因组DNA ,聚合酶链反应 (PCR)扩增EDNRB基因第 3、4、6外显子和EDN - 3基因第 1、2外显子 ,单链构象多态 (SSCP)分析上述外显子是否有突变。结果　 1 3例短段型先天性巨结肠症中 ,2例有EDNRB基因突变 ,1例有EDN 3基因突变。普通型及长段型未见EDNRB基因和EDN 3基因突变。结论　中国散发先天性巨结肠症短段型有EDNRB基因和EDN 3基因突变 ,提示EDNRB基因、EDN 3基因与先天性巨结肠症的发生有关

PCR-SSCP analysis of EDNRB gene and EDN-3 gene in Hirschsprung's disease

Objective To investigate the mutations of EDNRB gene and EDN 3 gene in sporadic Hirschsprung's disease (HD) in Chinese population. Methods Genomic DNA was extracted from the bowel tissues of 34 unrelated HD patients who underwent radical surgery. Exons 3, 4, 6 of EDNRB gene and Exons 1, 2 of EDN 3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP). Results EDNRB mutations were detected in 2 of the 13 short segment HDs. The one mutant was in the exon 3; the another one was in the exon 6. EDN 3 mutation was detected in 1 of the 13 short segment HDs and in the exon 2. Both EDNRB mutation and EDN 3 mutation were detected in one short segment HD. No mutations were detected in the ordinary or long segment HD. Conclusion The mutations of EDNRB gene and EDN 3 gene were detected in the short segment HD of sporadic Hirschsprung's disease in Chinese population.The results suggest that EDNRB gene and EDN 3 gene play an important role in the pathogenesis of HD.