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目的研究先天性巨结肠(Hirschsprung disease,HSCR)内皮素受体B(EDNRB)基因外显子1-4的特征,探讨EDNRB与HSCR的关系。方法通过测序及序列比对的方法对山西汉族80例先天性巨结肠患儿进行序列分析,以确定其突变和多态位点。结果在第4外显子发现多态位点c831G→A,引起亮氨酸的同义突变(L277L)。其中AA发生率为30.0%(24/80),AG发生率为50.0%(40/80),GG发生率为20.0%(16/80)。A等位基因频率为0.55,G等位基因频率为0.45。未发现其他已报道突变及多态位点。结论 HSCR可检测到EDNRB基因多态性改变,可能是疾病的易感基因。
Objective To investigate the characteristics of exon 1-4 of endothelin receptor B (EDNRB) gene in Hirschsprung disease (HSCR) and to explore the relationship between EDNRB and HSCR. Methods Sequence analysis and sequence alignment were used to analyze 80 cases of Hirschsprung’s disease in Han nationality in Shanxi province to determine the mutation and polymorphic loci. As a result, a polymorphic site c831G → A was found in exon 4, causing a leucine synonymous mutation (L277L). The incidence of AA was 30.0% (24/80), AG was 50.0% (40/80), and GG was 20.0% (16/80). The A allele frequency was 0.55 and the G allele frequency was 0.45. No other reported mutations and polymorphic sites were found. Conclusion HSCR can detect polymorphism of EDNRB gene and may be a susceptible gene to disease.