应用高分辨熔解曲线技术检测先天性巨结肠症患儿RET基因单核苷酸多态性  

Detection of RET Proto-oncongene DNA polymorphism in patients with Hirschsprung′s disease by high resolution melting

作　　者：赵文英[1] 李雪静[2] 张全斌[3] 马云霞[3] 周永安[3] 

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

出　　处：《中国优生与遗传杂志》2012年第11期17-19,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的研究山西汉族人群先天性巨结肠症(Hirschsprung's disease,HSCR)患者RET基因A45A,L125L,G691S的基因多态性的基因型和等位基因频率,探讨其基因多态性与HSCR发病的关系。方法应用高分辨率熔解曲线技术(High Resolution Melt,HRM)以及产物测序,序列比对的方法,对山西省80例散发性先天性巨结肠症患儿和80例健康儿童进行RET基因A45A,V125V,G691S位点分析。结果 A45A位点存在多态性,病例组突变型A和野生型G等位基因频率为84.37%和15.63%;对照组中突变型A和野生型G等位基因频率为47.50%和52.50%。与对照组相比两组间等位基因差异显著(χ2=48.43,P<0.05)。风险等位基因为A等位基因,OR=5.97,95%可信区间为3.609～9.874。G691S病例组突变型A和野生型G等位基因的频率为8.12%和91.88%;在对照组突变型A和野生型G等位基因频率为5.62%和94.38%,两组比较差异无明显差异(χ2=0.7810,P>0.05)。V125V可能不存在基因多态性。结论在山西汉族人群中,RET基因A45A多态性与先天性巨结肠症显著相关,未发现G691S与HSCR存在相关性,V125V可能不存在基因多态性。Objective： The aim of this study is analyzed single nucleotide polymorphisms in the RET proto -oncogen with genetype and allele frequency about A45A, L125L, G691S. And their correlations with the etiopathogenisis of HSCR in Shanxi provincial pa- tients of Han. Methods： HRM, gene sequencing and sequence flanking was used to detect A45A, L125L, G691S, involved in 80 pa- tients with HSCR and 80 healthy kids. Results： SNP （single nueleotide polymorphism） in A45A site was found. The case group of mutant A allele and wild - type G allele frequency was 84. 37% and 15.63% ; The control group of mutant A and wild - type G allele frequency was 47. 50% and 52. 50%. Compared with the control group significantly different allele between the two groups （χ2 = 48. 43, P 〈 0. 05 ）. Risk alleles is the A allele, OR = 5.97, 95% CI 3. 609 - 9. 874. The case group G691S mutant A and wild - type G allele frequency of 8. 12% and 91.88% ; in the control group mutant A and wild - type G allele frequency was 5.62% and 94. 38% , the difference was not significantly different （χ2 = 0. 7810, P 〉 0. 05 ）. V125V may not exist. Conclusions： The results con- firm that the A45A polymorphisms in the RET proto - oncogene play a role in the occurrence of HSCR in Shanxi provincial patients of Han. There is not found G691S associated with HSCR, and V125V gene polymorphism may not exist.

关 键 词：高分辨率熔解曲线 HIRSCHSPRUNG病 多态性 单核苷酸 

分 类 号：R725.7[医药卫生—儿科]