Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease.
OBJECTIVE
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.


CONCLUSIONS
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.
Duan
Xiang-Long
XL
Department of General Surgery, Second Hospital of Xi'an Jiaotong University, Xi'an 710004, Shaanxi Province, China. duanxl@21cn.com
Zhang
Xian-Sheng
XS
Li
Guo-Wei
GW
D044466:Asian People; D001483:Base Sequence; D002681:China; D017931:DNA Primers; D019334:Endothelin-3 / Q000235:genetics*; D006627:Hirschsprung Disease / Q000235:genetics* / Q000601:surgery; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D044023:Receptor, Endothelin B / Q000235:genetics*; D015183:Restriction Mapping
D017931:DNA Primers; D019334:Endothelin-3; D044023:Receptor, Endothelin B