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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 study the characteristics of endothelin receptor B gene in Chinese sporadic Hirschsprung disease and to explore the relationship between endothelin receptor B gene and the pathogenesis of Hirschsprung disease. Methods 75 cases of sporadic Hirschsprung disease were collected and 40 cases of normal control were collected. DNA was extracted from peripheral blood by salting - out method. Polymerase chain reaction - single strand conformation polymorphism and denaturing high performance liquid chromatography The 1a, 1b and 4 exons of the endothelin receptor B gene were analyzed and the DNA sequence was used to determine the base change pattern of the positive sample. Results There were polymorphisms in exon 4 in all 6 cases, all of which were replaced by G → A (Leu277 → Leu) at base 75487 (8.0% (6/75)). Normal controls There is no such change at this site. All cases of 1a, 1b exons no abnormal changes. Conclusion The polymorphism of endothelin receptor B gene can be detected in children with sporadic Hirschsprung ’s disease. Endothelin receptor B gene is a susceptible gene in Hirschsprung’ s disease.