Mutation of the endothelin-B receptor and the endothelin-3 gene in Chinese sporadic cases of Hirschsprung's disease / 西安交通大学学报·英文版

ABSTRACT

Objective: To investigate the mutation of endothelin receptor B (EDNRB) gene and endothelin-3 (EDN-3) gene in sporadic Hirschsprung's disease (HD) in Chinese population. Methods: 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). Results: EDNRB mutations were detected in 2 of the 13 short-segment HDs. One mutant was in the exon 3; the other 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 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. the mutations of EDNRB and EDN-3 lead to the maldevelopment of the enteric nervous system.