先天性巨结肠症内皮素B受体基因分析

Analysis of EDNRB gene in Hirschsprung′s disease

目的 检测中国散发先天性巨结肠症 (HD )是否有EDNRB基因突变 ,以探讨EDNRB与HD发生的关系。方法 提取 3 4例中国散发性HD患儿手术切除的组织标本基因组DNA ,聚合酶链反应(PCR)扩增EDNRB基因第 3 ,4,6外显子 ,单链构象多态 (SSCP)分析上述外显子是否有突变。结果 13例短段型HD中 ,2例有EDNRB基因突变 ;常见型及长段型未见EDNRB基因突变。结论 中国散发短段型HD有EDNRB基因突变 ,提示EDNRB基因与先天性巨结肠症的发生有关。

Objective To investigate the mutation of endothelin-B receptor(EDNRB) gene in sporadic Hirschsprung′s disease in Chinese population, to study the relationship between EDNRB gene and the pathogenesis of HD. Methods Genomic DNA was extracted from HD bowel tissues removed by surgery in 34 sporadic HD patients. Exon 3, 4, 6 of EDNRB gene 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,one′s mutant was in the exon 3, the another was in the exon 6. No mutations were detected in the ordinary or long-segment HD. Conclusions The mutations of EDNRB gene were detected in the short-segment HD of sporadic HD in Chinese population. The results suggest that the EDNRB gene plays an important role in the pathogenesis of HD.