中国人散发性先天性巨结肠症内皮素受体B基因的研究  

Analysis of endothelin-B receptor gene in Chinese patients with sporadic Hirschsprung’s disease

作　　者：周妙妮[1] 李继承[1] 丁世萍[1] 

机构地区：[1]浙江大学细胞生物学研究所

出　　处：《中华小儿外科杂志》2005年第7期350-353,共4页Chinese Journal of Pediatric Surgery

基　　金：浙江省医药卫生科学基金(批准号:2002A027);浙江省分析测试基金;浙江大学医学院中青年科技启动基金资助

摘　　要：目的研究中国人散发性先天性巨结肠症内皮素受体B基因的特征,探讨内皮素受体B基因与先天性巨结肠症发病的关系。方法收集散发性先天性巨结肠症病例75例和正常对照40例,通过盐析法从外周血中提取DNA,应用聚合酶链反应-单链构象多态性和变性高效液相色谱技术,对内皮素受体B基因的第1a、1b和4外显子进行分析,并通过DNA测序确定阳性样本的碱基改变方式。结果6个病例在第4外显子上存在多态性改变,改变方式均为碱基75487位点上G→A的置换(Leu277→Leu),发生率为8.0%(6/75)。正常对照样本该位点没有此种变化。所有病例的第1a、1b外显子均无异常改变。结论中国人散发性先天性巨结肠症患儿中可检测到内皮素受体B基因的多态性改变,内皮素受体B基因是先天性巨结肠症的易感基因。Objective To determine the characteristics of endothelin-B receptor (EDNRB) gene in Chinese patients with sporadic Hirschsprung's disease (HD) and investigate the relationship between variations of EDNRB gene and HD.Methods Blood from 75 sporadic HD cases and 40 normal cases as control was collected. DNA was extracted from peripheral white blood cells by standard method and single strand conformation polymorphism analysis of polymerase chain reaction products (PCR-SSCP) was used to analyze exon1a, exon1b and exon4 of EDNRB in all cases, then the positive cases were approved by the technique of denaturing high-performance liquid chromatography (DHPLC), finally DNA sequencing was used to investigate patterns of variations. Results No changes were found in exon1a and exon1b. However, a G→A polymorphism in codon 277(Leu277→Leu) was observed in exon4 of 6 patients with HD, the frequency was 8% (6/75).Conclusions The polymorphism of EDNRB geoe can be detected in patients with sporadic HD in Chinese population, and EDNRB gene may play a role in the development of HD.

关 键 词：先天性巨结肠症 B基因 散发性 聚合酶链反应-单链构象多态性 中国 变性高效液相色谱技术 基因的多态性 内皮素受体B 正常对照 DNA测序 第4外显子 异常改变 易感基因 病例 外周血 盐析法 发生率 变方 碱基 样本 位点 

分 类 号：R726.5[医药卫生—儿科]