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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 To investigate the genotype and allele frequencies of RET gene A45A, L125L and G691S in patients with Hirschsprung’s disease (HSCR) in Shanxi Han population and to explore the relationship between the polymorphisms and the incidence of HSCR. Methods Eighty cases of children with sporadic Hirschsprung ’s disease and 80 healthy children were enrolled in this study. The RET gene A45A and V125V were detected by high resolution Melt curve technique (HRM), product sequencing and sequence alignment. , G691S locus analysis. Results Polymorphism was found in A45A locus. The allele frequencies of mutant A and wild type G alleles were 84.37% and 15.63%, respectively. The frequencies of mutant A and wild type G allele in control group were 47.50% and 52.50% respectively. There were significant differences in alleles between the two groups (χ2 = 48.43, P <0.05) compared with the control group. The risk allele was A allele, OR = 5.97, 95% confidence interval was 3.609 ~ 9.874. The frequencies of mutant A and wild-type G alleles in G691S cases were 8.12% and 91.88%, respectively. The frequencies of mutant A and wild-type G alleles in control group were 5.62% and 94.38%, there was no significant difference between the two groups (χ2 = 0.7810, P> 0.05). V125V may not exist gene polymorphisms. Conclusion There is a significant correlation between A45A polymorphism of RET gene and Hirschsprung ’s disease in Shanxi Han population. There is no correlation between G691S and HSCR, and there may be no polymorphism in V125V.