Analysis of EDNRB gene in Hirschsprung′s disease / 中国普通外科杂志

ABSTRACT

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.