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.

Objective To determine the changes of gene expression profile in small intestinal allograft in rats after cold preservation/reperfusion and investigate the mechanism of allograft injury. Methods Heterotopic segmental small bowel transplantation in rats was performed with a modified technique. Total RNAs was extracted from the allografts (experimental group) and normal intestines (control group) 1h after cold preservation /reperfusion, and then purified to mRNA. Equal mRNAs of the two groups were as then reversely transcribed to cDNA and to prepare hybridization probes. The mixed probes were hybridized to the cDNA microarray . After high-stringent washing, the fluorescent signals on cDNA microarray were scanned and analyzed . Results Among the 4096 target genes, 82 differentially expressed genes were identified between the two groups. There were 18 novel genes and 33 expression sequence tags. 31 genes reported and differentially expressed could be related to the preservation/reperfusion injury of grafts. Conclusions Abnormal adhesion between polymorphonuclear cells and microvascular endothelial cells, and failure in energy, glucose and protein metabolism of grafts may contribute to cold preservation/reperfusion injury of small intestinal allografts.