山西汉族人群先天性巨结肠症患儿EDNRB基因多态性研究  

Study of EDNRB DNA polymorphism in patients with Hirschsprung′s disease in Shanxi Province

作　　者：周永安[1] 李雪静[2] 赵文英[3] 任彩芬[1] 任立红[1] 

机构地区：[1]太原市中心医院检验科,太原030009 [2]山西医科大学 [3]山西省儿童医院病理科,太原030009

出　　处：《中国优生与遗传杂志》2012年第12期17-18,16,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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 determie the characteristics of EDNRB gene in exon1,2,3,4 in Hirschsprung disease（HSCR）and probe the relationship between variations of EDNRB gene and HSCR.Method：The mutations and polymorphisms in exon 1,2,3,4 were detected by DNA sequencing and flanking sequence of EDNRB gene in 80 patients with HSCR.Results：By sequence analysis,SNP（single nucleotide polymorphism） in exon4 c831G→A（L277L）site was found.The frequence of AA was 30.0%（24/80）,the frequence of AG was 50.0%（40/80） and the frequence of AG was 20.0%（16/80）.The frequence of allele A was 0.55,the frequence of G was 0.45.The remaining polymorphic sites had been reported were not found in this experiment.Results： The change of EDNRB gene can be detected in patients with HSCR,and EDNRB gene may play a role in the development of HSCR.

关 键 词：先天性巨结肠症 EDNRB 基因多态性 

分 类 号：R726.5[医药卫生—儿科]