[Coding-sequence mutation and polymorphism analysis of EDNRB gene in patients with Hirschsprung's disease from...

To determine the characters of EDNRB gene in patients with sporadic Hirschsprung's disease (HD) and discuss the relationship between mutation of EDNRB gene and HD, seventy five sporadic HD cases and forty normal cases as control were collected and DNA was extracted from peripheral white blood cells by standard method. All seven exons of EDNRB gene were analyzed by single strand conformation polymorphism analysis of polymerase chain reaction products (PCR-SSCP) and direct sequencing. In result, A G --> A transition in codon 277 was observed in exon 4 in six patients. This variation leads to a nonsense mutation (L277L) and is a previously described polymorphism, the rate of variation is 8% (6/75). A G --> A transition in codon185 was detected in exon 2 in two patients, this is a novel heterozygous mutation, leading to a missense mutation (V185M), and the rate of mutation is 2.7% (2/75). So we can conclude that mutation of EDNRB gene can be detected in Chinese patients with sporadic HD and EDNRB gene might play an important role in the pathogenesis of HD.