中国大陆人散发性先天性巨结肠症患者内皮素受体B基因的研究

目的 探讨中国大陆人散发性先天性巨结肠症（sHD）易患基因内皮素受体B（EDNRB）的突变与多态性特征。方法 以92例sHD及其中32例患儿双亲为研究对象，并以60例正常儿为对照。提取受检者外周静脉血DNA，采用聚合酶链反应-单链构象多态性技术（PCR-SSCP）对EDNRB基因外显子-2（exon-2）进行分析，并通过DNA测序检测阳性标本的核苷酸改变方式，与文献报道的其他种族sHD同一基因特征做比较。结果 全部标本EDNRB基因exon-2均未发现突变与多态性位点的存在。结论 中国大陆人sHD患者EDNRB基因的exon-2不存在突变与多态性位点。

Analysis of endothelin B receptor gene in Chinese patients with sporadic congental megacolon

Objective:To explore the characteristics of mutations and polymorphisms of endothelin receptor B(EDNRB) gene in Chinese patients with sporadic Hirschsprung's(sHD) disease.Methods:Peripheral venaus blood from 92 cases with sHD,parents of 32 cases among them and 60 normal children as the control were collected.Genomic DNA was extracted from blood and single strand conformation polymorphisms analysis of polymerase chain reaction products was used to analyze exon-2 of EDNRB gene in all cases.DNA sequencing was used to detect the change of nucleotide in positive cases and compare the characteristics of mutations and polymorphisms with other ethnics.Results:No mutations and polymorphic sites were detected in exon-2 of EDNRB gene in all cases with sHD.Conclusion:Patients with sHD in Chinese mainland have the same characteristics of no mutations and polymorphisms in exon-2 of EDNRB gene with many other ethnics in the world.