Clinical Research
Copyright ©The Author(s) 2003. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Dec 15, 2003; 9(12): 2839-2842
Published online Dec 15, 2003. doi: 10.3748/wjg.v9.i12.2839
Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease
Xiang-Long Duan, Xian-Sheng Zhang, Guo-Wei Li
Xiang-Long Duan, Guo-Wei Li, Department of General Surgery, Second Hospital of Xi’an Jiaotong University, Xi’an 710004, Shaanxi Province, China
Xian-Sheng Zhang, Department of Pediatric Surgery, Second Hospital of Xi’an Jiaotong University, Xi’an 710004, Shaanxi Province, China
Author contributions: All authors contributed equally to the work.
Supported by the Natural Science Foundation of Shaanxi Province, No. 2000SM58
Correspondence to: Dr. Duan-Xiang Long, Department of General Surgery, Second Hospital of Xi’an Jiaotong University, Xi’an 710004, Shaanxi Province, China. duanxl@21cn.com
Telephone: +86-29-8402350 Fax: +86-29-5535250
Received: May 11, 2003
Revised: May 19, 2003
Accepted: June 2, 2003
Published online: December 15, 2003
Abstract

AIM: To investigate the mutation of EDNRB gene and 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 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.

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.

Keywords: $[Keywords]