中国两个地区散发性先天性巨结肠症患儿内皮素受体B基因的研究  

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

作　　者：牛彦锋[1] 王国斌[1] 卢晓明[1] 杜寒松[1] 杨鹏[1] 陶凯雄[1] 汤绍涛[1] 魏明发[2] 周欣[3] 

机构地区：[1]华中科技大学附属协和医院胃肠外科中心,湖北武汉430022 [2]华中科技大学附属同济医院小儿外科,湖北武汉430022 [3]武汉市儿童医院腹腔镜外科,湖北武汉430022

出　　处：《中国实用儿科杂志》2008年第1期37-40,共4页Chinese Journal of Practical Pediatrics

基　　金：国家自然科学基金资助项目(30371397);湖北省自然科学基金资助项目(2003ABA151)

摘　　要：目的探讨中国人散发性先天性巨结肠症(sporadic HD,sHD)易患基因内皮素受体-B的突变与多态性特征,比较不同种族sHD在基因改变上存在的异同。方法2002年1月至2004年12月收集武汉、太原地区92例sHD及32例患儿双亲的标本,并以60例正常儿为对照。提取外周静脉血DNA,采用聚合酶链反应-单链构象多态性方法(PCR-SSCP)对内皮素受体-B(EDNRB)基因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sHD患者EDNRB基因的exon-2与大多数种族一样都不存在突变与多态性位点,与南非、中国香港地区sHD该基因特征存在差异。Objective To probe the characteristics of mutations and polymorphisms of EDNRB gene in Chinese patients with sporadic Hirschsprung＇s（ sliD） disease,and analyze the differences between different ethnics with sliD. Methods Blood from 92 cases with sliD, parents of 32 cases （ 32/92 ） and 60 normal children as control was collected. Genomic DNA was extracted from peripheral blood and single strand conformation polymorphisms analysis of polymerase chain reacion products（ PCR-SSCP） 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 sliD. Conclusion Patients with sliD in Chinese mainland share the same characteristics of no mutations and polymorphisms in exon-2 of EDNRB gene with many ethnics in earth,which is different from that in South Africa and HongKong.

关 键 词：巨结肠 先天性 EDNRB基因 突变与多态现象 单链构象 

分 类 号：R72[医药卫生—儿科]